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Sample records for adenomatous polyposis patients

  1. Familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1989-01-01

    Familial adenomatous polyposis is an autosomal dominant disease that includes early development of up to thousands of colorectal adenomas and several extracolonic manifestations. All untreated patients will develop colorectal adenocarcinoma. The treatment of choice is colectomy and ileorectal...... anastomosis, but restorative proctocolectomy may be considered in selected cases. Polyposis patients treated with ileorectal anastomosis should be followed for life, with regular proctosigmoidoscopy and destruction of new adenomas. Furthermore, regular gastroduodenoscopy should be carried out because...

  2. Gastrointestinal Polyposis Syndromes : Clinical and molecular aspects of Familial Adenomatous Polyposis and Juvenile Polyposis

    NARCIS (Netherlands)

    Brosens, L.A.A.

    2008-01-01

    Colorectal cancer (CRC) is an important cause death. In the Netherlands, approximately 10.000 patients are diagnosed with CRC each year. Rare hereditary gastrointestinal polyposis syndromes predisposing to CRC, including familial adenomatous polyposis (FAP), juvenile polyposis (JPS) and

  3. Multiple Adenomatous Duodenal Polyposis

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    Zdena Zádorová

    2013-01-01

    Full Text Available Multiple duodenal polyps are a relatively rare finding, usually co-occurrent with familial adenomatous polyposis (FAP.We report a patient with multiple duodenal adenomas and a negative examination for FAP: multiple flat polyps were detected endoscopically in a 37-year-old male patient, extending from the apex of the bulb to the end of the descending part of the duodenum. In terms of histology, they were tubular adenomas with moderate dysplasia. Colonoscopy and enteroclysis were normal. Both push and capsule enteroscopy only showed multiple polyps in the area of the descending duodenum. DNA analysis of the APC gene was as follows: DGGE, exon 1–15, deletion at codons 1309 and 1061 by means of PCR for attenuated APC were negative. Afterwards we screened the patient for germline MYH mutations using the denaturing high-performance liquid chromatography (DHPLC in combination with sequencing. No novel pathogenic mutation has been identified. Large polyps were removed by means of endoscopic polypectomy and mucosectomy, while small polyps were removed by means of argon plasma coagulation.We conduct yearly checkups, removing only sporadic polyps. The rare finding of duodenal polyposis not co-occurrent with FAP proves that multiple adenomas in the digestive tube need not necessarily co-occur with FAP.

  4. Decreased levels of mucosal detoxification enzymes in the pouch of patients with familial adenomatous polyposis.

    NARCIS (Netherlands)

    Friederich, P.; Berkhout, M.; Roelofs, H.M.J.; Goor, H. van; Krieken, J.H.J.M. van; Peters, W.H.M.; Nagengast, F.M.

    2006-01-01

    BACKGROUND: Adenomas can develop in the pouch after colectomy with ileal pouch-anal anastomosis (IPAA) in patients with familial adenomatous polyposis (FAP). Glutathione S-transferases (GSTs) have a protective role in carcinogenesis. GST activity is much higher in the ileum than in the colon. The

  5. [Chronic polyps in the stomach and jejunum in a patient with familial adenomatous polyposis].

    Science.gov (United States)

    de Tomás, Jorge; Al Lal, Yusef; Pérez Díaz, M Dolores; Sanz, Mercedes

    2011-12-01

    The management of extracolonic gastrointestinal polyps is controversial in patients with familial adenomatous polyposis (FAP). The treatment of adenomatous polyps with severe dysplasia in the stomach through wide gastric resections can hamper subsequent surveillance of the development of new polyps in the duodenal-jejunal area. We report the exceptional case of a 45-year-old man with FAP who developed two synchronic adenomatous polyps, with severe dysplasia. The first was located in the gastric antrum and the second in the proximal jejunum. Given the preoperative diagnosis of gastric neoplasm with invasion of the gastric wall (T(2)N(0)), subtotal Roux-en-Y gastrectomy and resection of the proximal jejunal segment were performed. Copyright © 2011 Elsevier España, S.L. All rights reserved.

  6. Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

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    Nakamura, Keiko; Nonaka, Satoru; Nakajima, Takeshi; Yachida, Tatsuo; Abe, Seiichiro; Sakamoto, Taku; Suzuki, Haruhisa; Yoshinaga, Shigetaka; Oda, Ichiro; Matsuda, Takahisa; Sekine, Shigeki; Kanemitsu, Yukihide; Katai, Hitoshi; Saito, Yutaka; Hirota, Seiichi

    2017-01-01

    Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP. In the present study, we investigated the clinical outcomes of patients with FAP diagnosed with gastric neoplasms. Patients and methods We enrolled 80 patients with FAP who underwent esophagogastroduodenoscopy from October 1997 to December 2011. We investigated patient characteristics, endoscopic findings of gastric lesions, treatment outcomes, and long-term courses. Results Fundic gland polyposis was observed in 51 patients (64 %) and gastric neoplasms in 22 patients (28 %), including 20 with non-invasive and 2 with invasive neoplasm. Of the 26 neoplasms, 11 were treated by endoscopic resection (ER) and 4 by surgical resection. Metachronous gastric neoplasms were observed in 7 patients (15 lesions) and treated by ER, except for in 1 patient. No patients died of gastric lesions during a median follow-up period of 6.5 years (range, 0 – 14). Conclusion Because gastric lesions including gastric cancers in patients with FAP did not cause any deaths, they can be considered to have favorable prognoses. Early detection of gastric neoplasms through an appropriate follow-up interval may have contributed to these good outcomes. PMID:28271094

  7. A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

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    Manoochehr Karjoo

    2017-01-01

    Full Text Available Familial adenomatous polyposis (FAP is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also been well described in association with various syndromic extra-gastrointestinal manifestations. Less commonly, patients with FAP present with varying degrees of cognitive dysfunction and developmental delay, though the reason for the association is unclear. Herein, we report the case of a male patient born with an interstitial deletion of chromosome 5q, 46,XY, del(5 (q14q23, presenting with familial adenomatous polyposis (FAP, profound developmental delay, cognitive dysfunction, and multiple congenital anomalies including talipes equinovarus, agenesis of the corpus callosum, and dysmorphic facial features.

  8. Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

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    Danielidis Ioannis

    2005-04-01

    Full Text Available Abstract Background Familial Adenomatous Polyposis (FAP is caused by germline mutations in the APC (Adenomatous Polyposis Coli gene. The vast majority of APC mutations are point mutations or small insertions / deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene. Methods In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography, sequencing, MLPA (Multiplex Ligation – dependent Probe Amplification, Karyotyping, FISH (Fluorescence In Situ Hybridization and RT-PCR (Reverse Transcription – Polymerase Chain Reaction. Results A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA and a nonsense mutation (C1690T were identified in the rest of the patients. Conclusion Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.

  9. Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis

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    Andrew T. Schlussel

    2014-01-01

    Full Text Available Introduction. The objective of this case report is to discuss an unclassified germline variant of the adenomatous polyposis coli (APC gene identified in an older patient with attenuated familial adenomatous polyposis syndrome (AFAP. Methods. We present a case report of a 66-year-old man diagnosed with AFAP. Colonoscopy found multiple polyps and invasive adenocarcinoma arising in the transverse colon. Samples were tested for mutations in the APC gene. Results. DNA sequencing of germline DNA identified a cytosine (C to thymine (T transition at nucleotide 1240, heterozygous. The C to T transition at codon 414 is predicted to convert an arginine residue to a cysteine that is possibly pathogenic. Analysis of the patient’s colon tumor DNA indicated that the tumor had lost the mutant variant allele and retained only the normal allele, suggesting that the variant may not be significant. Conclusions. The p.R414C variant has been described previously as a germline mutation of probable pathogenicity. This substitution should be considered an unclassified variant and possibly not pathogenic. These findings support the need for further genetic testing of tissue, as well as for developing a mechanism for testing all variants, as this could significantly impact the lives of patients and their family members.

  10. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial

    NARCIS (Netherlands)

    Heumen, van B.W.; Roelofs, H.M.J.; Vink-Börger, M.E.; Dekker, E.; Mathus-Vliegen, E.M.; Dees, J.; Koornstra, J.J.; Langers, A.M.; Nagtegaal, I.D.; Kampman, E.; Peters, W.H.; Nagengast, F.M.

    2013-01-01

    Background Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of

  11. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: A multicentre, randomized controlled trial

    NARCIS (Netherlands)

    B.W.H. van Heumen (Bjorn); H.M.J. Roelofs (Hennie); M.E. Vink-Börger (M Elisa); E. Dekker (Evelien); E.M.H. Mathus-Vliegen (Elisabeth); J. Dees (Jan); J.J. Koornstra (Jan); A.M. Langers (Alexandra); I.D. Nagtegaal (Iris); E. Kampman (Ellen); W.H.M. Peters (Wilbert); F.M. Nagengast (Fokko)

    2013-01-01

    textabstractAbstract. Background: Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may

  12. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial

    NARCIS (Netherlands)

    Heumen, B.W.H van; Roelofs, H.M.J.; Vink-Borger, M.E.; Dekker, E. den; Mathus-Vliegen, E.M.H.; Dees, J.; Koornstra, J.J.; Langers, A.M.; Nagtegaal, I.D.; Kampman, E.; Peters, W.H.M.; Nagengast, F.M.

    2013-01-01

    BACKGROUND: Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of

  13. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis : a multicentre, randomized controlled trial

    NARCIS (Netherlands)

    van Heumen, Bjorn W. H.; Roelofs, Hennie M. J.; Vink-Borger, M. Elisa; Dekker, Evelien; Mathus-Vliegen, Elisabeth M. H.; Dees, Jan; Koornstra, Jan J.; Langers, Alexandra M. J.; Nagtegaal, Iris D.; Kampman, Ellen; Peters, Wilbert H. M.; Nagengast, Fokko M.

    2013-01-01

    Background: Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of

  14. Spontaneous Immortalization of Clinically Normal Colon-Derived Fibroblasts from a Familial Adenomatous Polyposis Patient

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    Nicholas R. Forsyth

    2004-05-01

    Full Text Available Normal human diploid cells do not spontaneously immortalize in culture, but instead enter replicative senescence after a finite number of population doublings. Ablation of key checkpoint arrest or cancersuppressor genes, through dominantly inherited germline mutation (p53+/-, Li-Fraumeni or viral oncogene expression (SV40 large T, HPV16/18, E6/E7 can lead to escape from senescence, additional doublings, entrance into crisis phase, where immortal clones emerge at low frequency. In the vast majority of cases, telomerase is reactivated and telomeres are stabilized. Here we describe the spontaneous immortalization of clinically normal fibroblasts derived from colonic stroma of a familial adenomatous polyposis (FAP patient. The preimmortal (C26C and the spontaneously immortalized derivative (C26Ci cells are heterozygous for a characterized germline mutation in exon 15 of the adenomatous polyposis coli gene. Immortalization was accompanied by spontaneous reactivation of endogenous telomerase and establishment of telomeres at presenescent lengths. Normal checkpoint behavior is retained and a diploid karyotype is maintained. These cells provide a valuable new addition to the limited number of spontaneously immortalized human cell types, particularly fibroblast cells, will be useful in experimentally determining the functional pathways in neoplastic development and in the identification of potential molecular targets for cancer chemoprevention.

  15. High resolution endoscopy and the additional value of chromoendoscopy in the evaluation of duodenal adenomatosis in patients with familial adenomatous polyposis

    NARCIS (Netherlands)

    Dekker, E.; Boparai, K. S.; Poley, J. W.; Mathus-Vliegen, E. M.; Offerhaus, G. J. A.; Kuipers, E. J.; Fockens, P.; Dees, J.

    2009-01-01

    Background and study aim: Duodenal polyposis occurs in approximately 90% of patients with familial adenomatous polyposis (FAP) and 5%-10% develop duodenal cancer. Novel imaging techniques may improve evaluation of duodenal polyposis using the Spigelman classification. We aimed to analyze the value

  16. Loss of extracellular E-cadherin in the normal mucosa of duodenum and colon of patients with familial adenomatous polyposis.

    NARCIS (Netherlands)

    Berkhout, M.; Gosens, M.J.E.M.; Brouwer, K.; Peters, W.H.M.; Nagengast, F.M.; Krieken, J.H.J.M. van; Nagtegaal, I.D.

    2006-01-01

    The duodenum is the main site for (pre-) malignant extracolonic manifestations in patients with familial adenomatous polyposis (FAP). Changes in the E-cadherin/beta-catenin complex play a pivotal role in the development of malignancies. Loss of E-cadherin has been described in association with loss

  17. Diagnosis of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1991-01-01

    Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenomas and of colorectal adenocarcinoma in all untreated cases. Moreover, a variety of extracolonic manifestations are seen. Proctosigmoidoscopy is used for screening; when adenomas are found......, the diagnostic evaluation includes colonoscopy and gastroduodenoscopy. Screening of first degree relatives should start at the age of 10 years, using proctosigmoidoscopy at regular intervals. The recent detection of a specific FAP gene at chromosome 5 and of congenital retinal pigmentations will allow an early...

  18. Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis

    Science.gov (United States)

    Tajika, Masahiro; Niwa, Yasumasa; Bhatia, Vikram; Tanaka, Tsutomu; Ishihara, Makoto; Yamao, Kenji

    2013-01-01

    Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis (FAP). However, adenomas may develop in the ileal pouch mucosa over time, and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence, nature, and treatment of adenomas and carcinoma that develop after proctocolectomy in the ileal pouch mucosa in patients with FAP. In 25 reports that were reviewed, the incidence of adenomas in the ileal pouch varied from 6.7% to 73.9%. Several potential factors that favor the development of pouch polyposis have been investigated, but many remain controversial. Nevertheless, it seems certain that the age of the pouch is important. The risk appears to be 7% to 16% after 5 years, 35% to 42% after 10 years, and 75% after 15 years. On the other hand, only 21 cases of ileal pouch carcinoma have been recorded in the literature to date. The diagnosis of pouch carcinoma was made between 3 to 20 years (median, 10 years) after pouch construction. Although the risk of malignant transformation in ileal pouches is probably low, it is not negligible, and the long-term risk cannot presently be well quantified. Regular endoscopic surveillance, especially using chromoendoscopy, is recommended. PMID:24187452

  19. Dispelling misconceptions in the management of familial adenomatous polyposis.

    Science.gov (United States)

    Chittleborough, Timothy J; Warrier, Satish K; Heriot, Alexander G; Kalady, Matthew; Church, James

    2017-06-01

    Patients with familial adenomatous polyposis require surgical intervention at some point in their lives. The diagnosis is often apparent from their phenotype and family history, however, this is not always the case. Many factors can influence the surgical strategy although the polyposis burden and distribution remain the main consideration. While prophylactic removal of the rectum and colon is often required, sparing the rectum at the index surgery is safe in select patients. This article aims to dispel misconceptions in the diagnosis and treatment of patients with familial adenomatous polyposis. © 2017 Royal Australasian College of Surgeons.

  20. Evaluation of endoscopic characteristics of upper gastrointestinal polyps in patients with familial adenomatous polyposis.

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    Fatemi, Seyed Reza; Safaee, Azadeh; Pasha, Sara; Pourhoseingholi, Mohamad Amin; Bahrainei, Rasool; Molaei, Mahsa

    2014-01-01

    Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in Iranian FAP patients. 28 patients affected by FAP underwent front-view and side-view endoscopy. Papillary biopsies were performed in all patients. Location of polyps, their number and size, pathology study, patient general information (gender, age, family history of FAP or colorectal cancer and gastroduodenal polyps) were analyzed. Gastric polyps were seen in 39.3 % of patients. Some 72.7% of the affected individuals had fundic gland polyps and 36.36% had hyperplastic polyps. Duodenal adenoma was observed in 25% of patients. While 57% of patients had tubular adenoma with low grade dysplasia, 42.8% showed tubulovillous adenoma with low grade dysplasia. Findings of this study indicated that the prevalence of gastroduodenal polyps in FAP patients is high and dysplasia may be evident in duodenal polyps. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.

  1. Characterization of adenocarcinoma of the lung in a familial adenomatous polyposis patient.

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    Shinmura, Kazuya; Suzuki, Masaya; Yamada, Hidetaka; Tao, Hong; Goto, Masanori; Kamo, Takaharu; Nagura, Kiyoko; Kageyama, Shinji; Kato, Motohiro; Ogawa, Seishi; Maekawa, Masato; Takamochi, Kazuya; Suzuki, Kazuya; Nakamura, Toshio; Sugimura, Haruhiko

    2008-11-01

    The incidence of several extracolonic tumors, such as duodenal carcinoma, is higher in familial adenomatous polyposis (FAP) patients than in the general population, but there is little information about lung carcinoma in FAP. A 43-year-old woman presented with a lung tumor 17 years after total colectomy for FAP. Pathohistological analysis of the lung tumor demonstrated mixed adenocarcinoma consisting of a papillary adenocarcinoma component and a bronchioloalveolar carcinoma component. Sequencing analysis indicated a germline APC mutation from TCA to TGA (stop) at codon 1110, but no pathogenic germline MYH mutations. The other APC allele in the lung carcinoma was not inactivated by somatic mutations, promoter methylation, or chromosomal deletion. No somatic mutations in any of the coding regions of the p53 gene or in the mutation hot spot regions of the K-ras or EGFR genes were detected in the carcinoma. Amplification, however, of three chromosome regions, 5p, 8q, and 12q14-12q21, was identified in the carcinoma on genome-wide high-resolution single-nucleotide polymorphism (SNP) microarray. The present results suggest that the chromosomal copy number alterations detected on SNP microarray were involved in the carcinogenesis of the adenocarcinoma of the lung in the present FAP patient.

  2. Causes of death in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Galle, T S; Juel, K; Bülow, S

    1999-01-01

    The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due to du...... to duodenal/periampullary cancer and desmoid tumours. The aim of this study was to examine the causes of death with special emphasis on duodenal/periampullary cancer.......The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due...

  3. Deep vein thrombosis in a patient of adenomatous polyposis coli treated successfully with aspirin: A case report

    OpenAIRE

    Agrawal, Neha; Santra, Tuhin; Kar, Arnab; Guha, Pradipta; Bar, Mita; Adhikary, Apu; Datta, Sumana

    2016-01-01

    Background: Deep vein thrombosis is an important cause of morbidity and mortality. However, its association with adenomatous polyposis coli is extremely rare. Here we present an interesting case of deep vein thrombosis associated with adenomatous polyposis coli. Case Presentation: A 15 year old female who was having fever and diarrhea for 5 months developed bilateral asymmetric painful swelling of lower limbs for 1 month. Doppler ultrasound of lower limbs revealed presence of thrombosis from ...

  4. Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta-analysis.

    Science.gov (United States)

    Almeida, Fabiana Tolentino; Pachêco-Pereira, Camila; Porporatti, André Luís; Flores-Mir, Carlos; Leite, André Ferreira; De Luca Canto, Graziela; Guerra, Eliete Neves Silva

    2016-03-01

    The oral manifestations of familial adenomatous polyposis (FAP) have been reported in the recent literature. Therefore, there has been growing interest in the characterization of the dento-osseous anomalies because they may precede colorectal cancer and may be used as a diagnostic marker. This systematic review and meta-analysis was performed to evaluate the published evidence for what are the oral manifestations of FAP and their frequency in affected individuals. The search was performed at Cochrane Library, EMBASE, LILACS, PubMed, Scopus, and Web of Science for articles published up to March 2015. A grey literature search was conducted through Google Scholar. Reference lists of the included articles and additional studies identified by expert were screened for potential relevant studies. The methodology of selected studies was evaluated using the risk of bias checklist of the Agency for Healthcare Research and Quality. Twenty observational studies totalizing 1635 individuals affected by FAP met the inclusion criteria. Osseous, dental, and oral mucosa alterations were observed in FAP patients. The meta-analysis showed the frequency of osseous jaw lesions, and the dental anomalies were 65.35% and 30.48%, respectively, and two studies suggested that oral mucosa vascular density is a phenotypic manifestation in patients with FAP. Most of the studies were evaluated as moderate risk of bias. The most frequent oral manifestation on FAP patients is osseous jaw alterations. In the future, well-designed studies are necessary to classify osseous and dental anomalies in order to demonstrate the true prevalence of each alteration separately. © 2015 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  5. Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients.

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    Venesio, Tiziana; Balsamo, Antonella; Sfiligoi, Christian; Fuso, Luca; Molatore, Sara; Ranzani, Guglielmina Nadia; Risio, Mauro

    2007-03-01

    Familial adenomatous polyposis is an inherited condition associated with hundreds to thousands of colorectal adenomas conferring a very high risk of cancer at a young age. In addition to "classical" form, there is also an attenuated polyposis, with fewer than 100 polyps and a delayed age of cancer onset. Both classical and attenuated polyposis are characterized by a relevant phenotypic heterogeneity. The disease has been linked to constitutive mutations of either APC tumor suppressor gene, or less frequently, MYH base-excision repair gene. However, the genetic cause remains undetected in up to 70-80% of patients with the attenuated form. This analysis was performed on 26 polyposis patients with the attenuated phenotype. All patients had formerly proven to be negative for APC truncating mutations that typically represent the majority of APC gene alterations. We evaluated the APC mRNA constitutional level by real-time quantitative reverse transcription polymerase chain reaction (PCR). Eleven patients (42%) showed an anomalous APC transcription level. One patient with reduced mRNA was a carrier of a whole APC gene deletion. In seven out of the ten remaining cases, we found the increased expression of an APC mRNA isoform resulting from exon 10/15 connection and giving rise to a stable truncated peptide. Mutations neither in the invariant splice sites nor in the known transcription regulatory signals were found. Our results support the notion that in attenuated polyposis patients, a detailed investigation of APC transcription can allow detection of rare alterations. Although functional data are required, the isoform we observed might have some pathogenic role, accounting for the heterogeneous phenotype that characterizes the polyposis syndrome.

  6. [Intraabdominal desmoid tumors in familial adenomatous polyposis].

    Science.gov (United States)

    Galletto, Paula; Leoz, Maria Liz; Castells, Antoni; Balaguer, Francesc

    2013-11-01

    Desmoid tumors are currently the main cause of morbidity and mortality in patients with familial adenomatous polyposis. More than 10% of these patients will develop these tumors during their lifetime and more than a third will suffer their consequences. The main risk factors for their development are female sex and abdominal surgery. The most frequent localization is intraabdominal. The therapeutic approach to these tumors has changed, and the surgical treatment of choice is currently the subject of debate. If a watch and wait approach is adopted, more than 50% of tumors will prove to be indolent. Therefore, the therapeutic strategy should be based on clinical presentation and should be decided by a multidisciplinary team working in a center with experience of these tumors. The present article proposes a prognostic classification to guide the therapeutic approach. Copyright © 2012 Elsevier España, S.L. and AEEH y AEG. All rights reserved.

  7. Small bowel endoscopy in familial adenomatous polyposis and Lynch syndrome

    NARCIS (Netherlands)

    Koornstra, Jan Jacob

    Patients with familial adenomatous polyposis (FAP) and patients with Lynch syndrome have an increased risk of developing small intestinal neoplasia. In both conditions, the lifetime risk to develop small bowel cancer is estimated to be around 5%. In FAP, this risk is associated with the degree of

  8. The outcome of familial adenomatous polyposis in the absence of a ...

    African Journals Online (AJOL)

    Method. From 1964 to 1990, 70 patients with familial adenomatous polyposis were ... average 10 years older than the asymptomatic patients. (Table I). Table I. Symptoms at presentation v. age. Mean age. No. (yrs). Large-bowel cancer ..... adenomatous polyposis with linked DNA markers: population based study. BMJ. 1992 ...

  9. Familial adenomatous polyposis: from bedside to benchside.

    LENUS (Irish Health Repository)

    O'Sullivan, M J

    2012-02-03

    Familial adenomatous polyposis (FAP) is a dominantly inherited cancer-predisposition syndrome with an incidence of between 1:17,000 and 1:5,000. The condition has been causally linked to mutation of the adenomatous polyposis coli (APC) gene located at 5q21. Virtually all mutations in the APC gene are truncating mutations, resulting in loss of function of the APC protein. Spontaneous germline mutation of this gene occurs frequently and accounts for the high incidence of FAP. The gene is somatically mutated at an early point in the colorectal adenoma-carcinoma progression. Somatic mutations of the APC gene are also frequently observed in a variety of other human carcinomas. Isolation of the APC gene has led to the recognition of genotype-phenotype correlations and, together with protein studies, has helped to elucidate the structure and function of the APC protein. This report aims to take the reader from a clinical appreciation to a molecular understanding of FAP.

  10. Polipose gastroduodenal em doentes com polipose adenomatosa familiar Pós-Retocolectomia Gastroduodenal polyposis in patients with familiar adenomatous polyposis after rectocolectomy

    Directory of Open Access Journals (Sweden)

    Raquel Franco Leal

    2007-06-01

    Full Text Available RACIONAL: As manifestações extracólicas, como os pólipos gastroduodenais e o tumor do duodeno, são fatores que influenciam a morbimortalidade dos doentes com polipose adenomatosa familiar no seguimento pós-retocolectomia total. OBJETIVO: Investigar a freqüência destas alterações em doentes com polipose adenomatosa familiar e verificar a eficácia do rastreamento endoscópico. MÉTODO:No período de 1984 a 2005, 62 doentes com polipose adenomatosa familiar pós-retocolectomia foram estudados retrospectivamente pelo Grupo de Coloproctologia da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, SP. O tempo de seguimento médio pós-operatório foi de 81,9 meses, sendo que em 53 (85,5% foi possível analisar a ocorrência de pólipos gastroduodenais. RESULTADOS: Dos 53 doentes em seguimento, 27 (50,9% apresentavam pólipos gastroduodenais. Em 8 (15,4% os pólipos adenomatosos eram gástricos, 14 (27% pólipos duodenais e 5 (9,6% pólipos gástricos e duodenais. Dois doentes (3,8% desenvolveram adenoma duodenal com displasia de alto grau. E outro (1,9%, adenocarcinoma em papila duodenal. CONCLUSÃO: O rastreamento endoscópico, desta forma, é de grande importância e o objetivo é detectar, o mais precocemente possível, os casos de adenocarcinoma duodenal e pólipos gastroduodenais com displasia de alto grau.BACKGROUND: The extra colonic manifestations, like upper gastrointestinal tract polyps and duodenal cancer are disorders that affect long-term morbidity and mortality of patients with familial adenomatous polyposis, after rectocolectomy. AIM: To describe the frequency of those disorders in patients with familial adenomatous polyposis and to review efficacy of upper gastrointestinal endoscopic surveillance. METHODS: Between 1984 and 2005, 62 patients with familial adenomatous polyposis after rectocolectomy, were studied retrospectively, by Coloproctology Group, Medical Sciences Faculty, State University of Campinas

  11. Female fertility after colorectal surgery for familial adenomatous polyposis: a nationwide cross-sectional study

    NARCIS (Netherlands)

    Nieuwenhuis, M.H.; Douma, K.F.; Bleiker, E.M.; Bemelman, W.A.; Aaronson, N.K.; Vasen, H.F.

    2010-01-01

    Background: Information on postoperative fertility problems in female patients with familial adenomatous polyposis (FAP) is scarce. Previous studies in FAP or colitis patients almost uniformly describe a reduction in fertility after ileal pouch-anal anastomosis, compared with ileorectal anastomosis.

  12. Female Fertility After Colorectal Surgery for Familial Adenomatous Polyposis A Nationwide Cross-sectional Study

    NARCIS (Netherlands)

    Nieuwenhuis, Marry H.; Douma, Kirsten F.; Bleiker, Eveline M.; Bemelman, Willem A.; Aaronson, Neil K.; Vasen, Hans F.

    2010-01-01

    Background: Information on postoperative fertility problems in female patients with familial adenomatous polyposis (FAP) is scarce. Previous studies in FAP or colitis patients almost uniformly describe a reduction in fertility after ileal pouch-anal anastomosis, compared with ileorectal anastomosis.

  13. Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.

    Science.gov (United States)

    Hodgson, S V; Coonar, A S; Hanson, P J; Cottrell, S; Scriven, P N; Jones, T; Hawley, P R; Wilkinson, M L

    1993-01-01

    Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with occasional single polyps. Both subjects had dermoid cysts, and congenital hypertrophy of the retinal pigment epithelium (CHRPE) was seen in case 2. Case 1 has gastroduodenal polyps and desmoid tumours; case 2 has a marfanoid habitus with an abnormal pectus, wasted calf muscles and clawing of the toes, and Caroli's syndrome. His deletion is cytogenetically more extensive than that in case 1. The paucity of adenomas in the left side of the colon suggests that FAP cannot always confidently be excluded by sigmoidoscopy alone. The expression of the disease in the colon in these cases could be milder than in the more usual autosomal dominant cases where nonsense mutations resulting from single base changes of small deletions rather than deletion of the whole gene are the usual finding. Images PMID:8391580

  14. Open versus laparoscopic (assisted) ileo pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis

    NARCIS (Netherlands)

    Ali, Usama Ahmed; Keus, Frederik; Heikens, Joost T.; Bemelman, Willem A.; Berdah, Stephane V.; Gooszen, H. G.; van Laarhoven, Cees J. H. M.

    2009-01-01

    Background Restorative proctocolectomy with ileo pouch anal anastomosis (IPAA) is the main surgical treatment for patients with ulcerative colitis (UC) and familial adenomatous polyposis (FAP). With the advancements of minimal-invasive surgery this demanding operation is increasingly being performed

  15. Colectomy and ileorectal anastomosis is still an option for selected patients with familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen; Bulow, C.; Vasen, H.

    2008-01-01

    PURPOSE: The risk of rectal cancer after colectomy and ileorectal anastomosis may be reduced in the last decades, as patients with severe polyposis now have an ileoanal pouch. We have reevaluated the risk of rectal cancer and proctectomy for all causes according to the year of operation. METHODS......: On the basis of the year of operation in 776 patients with ileorectal anastomosis and 471 pouch patients in Denmark, Finland, Holland, and Sweden, the "pouch period" was defined to start in 1990. Ileorectal anastomosis follow-up data was captured by May 31, 2006. The cumulative risk of rectal cancer...... and proctectomy was compared before and after 1990 by Kaplan-Meier analysis. RESULTS: In the prepouch period 56/576 patients (10 percent) developed rectal cancer, vs. 4/200 (2 percent) in the pouch period. Neither the cumulative risk of rectal cancer (p = 0.07) nor the cumulative risk of proctectomy (p = 0...

  16. Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study.

    Science.gov (United States)

    Azofra, Ana Sánchez; Kidambi, Trilokesh D; Jeremy, Rita J; Conrad, Peggy; Blanco, Amie; Myers, Megan; Barkovich, James; Terdiman, Jonathan P

    2016-01-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case reports have noted an association with FAP and intellectual disability and animal studies have shown that APC is implicated in neural development and function, but no studies have investigated neuropsychological, behavioral, or structural brain characteristics of patients with FAP. We undertook a pilot, sibling-pair study comparing three patients with FAP to their sex-matched siblings without FAP. Each sibling pair underwent neuropsychological testing by a blinded examiner, high resolution brain MRI scans, and the mother of each pair rated her children's adaptive life skills and behavioral and emotional characteristics. Given the small number of study participants in this pilot study, quantitative comparisons of results were made by subtracting the score of the non-FAP sibling from the FAP patient on the various neuropsychological tests and parent rating questionnaires to calculate a difference, which was then divided by the standard deviation for each individual test to determine the difference, corrected for the standard deviation. Diffusion numbers in multiple regions of the brain as assessed by MRI were calculated for each study participant. We found similarity between siblings in all three pairs on a wide range of neuropsychological measures (general intelligence, executive function, and basic academic skills) as tested by the psychologist as well as in descriptions of adaptive life skills as rated by mothers. However, mothers' ratings of behavioral and emotional characteristics of two of the three pairs showed differences between the siblings, specifically that the patients with FAP were found to have more behavioral and emotional problems compared to their siblings. No differences in brain structure were identified by MRI. We report the first study

  17. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study

    DEFF Research Database (Denmark)

    Nieuwenhuis, Marry H; Lefevre, Jérémie H; Bülow, Steffen

    2011-01-01

    Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice.......Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice....

  18. Results of national registration of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    2003-01-01

    BACKGROUND AND AIMS: The Danish Polyposis Register was established in 1971 with the aim of improving the poor prognosis of familial adenomatous polyposis (FAP), and in 1975 the register became national. The aim of the present study was to evaluate the prevalence of colorectal cancer and survival ...

  19. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient

    DEFF Research Database (Denmark)

    Klarskov, Louise; Mogensen, Anne Mellon; Jespersen, Niels

    2011-01-01

    in the inflamed rectum stump. The malignant growth was surrounded by a filiform polyposis, grossly considered as pseudopolyps. The histology disclosed, however, a morphology corresponding to the recently described filiform subset of serrated adenoma (FSA). The clustering of the FSA amounted to a filiform serrated...... lesions of colorectal carcinoma arising in a chronically inflamed bowel as opposed to the generally more monotonous appearance of adenomas in a sporadic context....

  20. Desmoid tumour in familial adenomatous polyposis. A review of literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Louise; Bülow, Steffen

    2001-01-01

    Desmoid tumours (DT) are rare benign tumours that do not metastasise, but tend to invade locally. DT are frequently seen in patients with familial adenomatous polyposis (FAP), and diagnosis and treatment are often difficult. Surgical trauma, genetic predisposition and hormonal factors are conside......Desmoid tumours (DT) are rare benign tumours that do not metastasise, but tend to invade locally. DT are frequently seen in patients with familial adenomatous polyposis (FAP), and diagnosis and treatment are often difficult. Surgical trauma, genetic predisposition and hormonal factors...... are considered to be correlated with the development and growth of DT. In patients with FAP, 50% of the tumours are localised intra-abdominally, and 85-100% of these are mesenteric. DT frequently present as non- tender, slowly growing masses. The symptoms are abdominal pain, vomiting, diarrhoea or haematochezia....... Mesenteric DT can cause small bowel obstruction or ischaemia, hydronephrosis or form fistulas. Diagnosis is obtained through biopsy and the extension is determined by a CT-scan. Surgical excision is recommended in patients with DT in the abdominal wall. First line treatment of mesenteric DT is a NSAID...

  1. Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations.

    Science.gov (United States)

    Campos, Fábio Guilherme

    2014-11-28

    Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient's preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

  2. Progression of duodenal adenomatosis in familial adenomatous polyposis: due to ageing of subjects and advances in technology

    NARCIS (Netherlands)

    Mathus-Vliegen, Elisabeth M. H.; Boparai, Karam S.; Dekker, Evelien; van Geloven, Nan

    2011-01-01

    Familial adenomatous polyposis patients are at risk of duodenal cancer. Surveillance is indicated and the extent of duodenal polyposis is quantified by the Spigelman staging system. We noticed an impressive increase in high Spigelman stages over the years and therefore decided to investigate whether

  3. Multiple splenic hamartomas and familial adenomatous polyposis: a case report and review of the literature.

    Science.gov (United States)

    Carlomagno, Nicola; Duraturo, Francesca; Candida, Maria; De Rosa, Marina; Varone, Valeria; Ciancia, Giuseppe; Calogero, Armando; Santangelo, Michele L

    2015-07-04

    Splenoma or splenic hamartoma is a rare primary splenic tumor most often discovered radiologically and incidentally. Splenic hamartomas have a strong association with solid and hematological malignancies and, in rare cases, with tuberous sclerosis, but to the best of our knowledge no reports of splenic hamartomas associated with familial adenomatous polyposis have been documented, although it is recognized that familial adenomatous polyposis presents a variety of extracolonic manifestations. We report on a very rare case of multiple splenic hamartomas in a 46-year-old white woman who had previously undergone surgery for restorative proctocolectomy for familial adenomatous polyposis. A computed tomography scan of her spleen revealed multiple small lesions which measured less than 1cm in diameter. A splenectomy was performed and a histologic examination of the splenectomy specimen revealed the presence of multiple hamartomas. Incidence, differential diagnosis, diagnostic procedures, pathologic findings and treatment of splenic hamartomas are discussed here and hamartomas are considered in a differential diagnosis of splenic tumors. A splenectomy is indicated in cases where malignancy cannot be excluded and in cases of associated hematologic disorders. To the best of our knowledge our patient is the first reported case to have splenic hamartomas identified in a familial adenomatous polyposis-affected patient with mutation in exon 15 of the APC gene. At this time it is not possible to correlate with certainty our multiple splenic hamartomas and familial adenomatous polyposis case as a clinical manifestation of the mutation of APC gene; however, we believe that this case report could be important for further observation of similar cases in the future.

  4. Childbirth after surgery for familial adenomatous polyposis in Japan.

    Science.gov (United States)

    Kobayashi, Hirotoshi; Ishida, Hideyuki; Ueno, Hideki; Hinoi, Takao; Inoue, Yasuhiro; Ishida, Fumio; Kanemitsu, Yukihide; Konishi, Tsuyoshi; Yamaguchi, Tatsuro; Tomita, Naohiro; Matsubara, Nagahide; Watanabe, Toshiaki; Sugihara, Kenichi

    2017-02-01

    Familial adenomatous polyposis (FAP) is a genetic disorder. Some female patients with FAP can become pregnant. However, the current state of childbirth after surgery for FAP is unclear in Japan. The study investigated 303 patients (147 female) who had undergone surgery for FAP at the 23 institutions between 2000 and 2012. Eighty female patients had information available on childbirth after surgery for FAP. Eight patients (10 %) gave birth after surgery. The mean age at surgery for FAP was 27 (range 20-41) years and 37 years in patients with and without childbirth after surgery, respectively (P = 0.044). The rate of childbirth after surgery was 17 % in women ≤30 years of age and 13 % in those ≤40 years of age. Although only one patient with invasive cancer (2.9 %) gave childbirth after surgery, seven patients without cancer (15.6 %) gave birth (P = 0.045). This study clarified the current state of childbirth after surgery for FAP in Japan. It is important to use these data to determine the best therapeutic approach for female FAP patients.

  5. Sulfate-reducing bacteria colonize pouches formed for ulcerative colitis but not for familial adenomatous polyposis.

    LENUS (Irish Health Repository)

    Duffy, M

    2012-02-03

    PURPOSE: Ileal pouch-anal anastomosis remains the "gold standard" in surgical treatment of ulcerative colitis and familial adenomatous polyposis. Pouchitis occurs mainly in patients with a background of ulcerative colitis, although the reasons for this are unknown. The aim of this study was to characterize differences in pouch bacterial populations between ulcerative colitis and familial adenomatous pouches. METHODS: After ethical approval was obtained, fresh stool samples were collected from patients with ulcerative colitis pouches (n = 10), familial adenomatous polyposis (n = 7) pouches, and ulcerative colitis ileostomies (n = 8). Quantitative measurements of aerobic and anaerobic bacteria were performed. RESULTS: Sulfate-reducing bacteria were isolated from 80 percent (n = 8) of ulcerative colitis pouches. Sulfate-reducing bacteria were absent from familial adenomatous polyposis pouches and also from ulcerative colitis ileostomy effluent. Pouch Lactobacilli, Bifidobacterium, Bacteroides sp, and Clostridium perfringens counts were increased relative to ileostomy counts in patients with ulcerative colitis. Total pouch enterococci and coliform counts were also increased relative to ileostomy levels. There were no significant quantitative or qualitative differences between pouch types when these bacteria were evaluated. CONCLUSIONS: Sulfate-reducing bacteria are exclusive to patients with a background of ulcerative colitis. Not all ulcerative colitis pouches harbor sulfate-reducing bacteria because two ulcerative colitis pouches in this study were free of the latter. They are not present in familial adenomatous polyposis pouches or in ileostomy effluent collected from patients with ulcerative colitis. Total bacterial counts increase in ulcerative colitis pouches after stoma closure. Levels of Lactobacilli, Bifidobacterium, Bacteroides sp, Clostridium perfringens, enterococci, and coliforms were similar in both pouch groups. Because sulfate-reducing bacteria are

  6. Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

    Science.gov (United States)

    Buecher, Bruno

    2016-02-01

    Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and large genomic rearrangements). Moreover, the knowledge concerning several aspects of the MUTYH-associated polyposis has improved since its first description in 2002 and germline mutations in new genes have recently been implicated in some cases of unexplained adenomatous polyposis. Genetic testing in probands and their relatives should be conducted in the context of pre- and post-test genetic counseling. The recent advent of New Generation Sequencing (NGS) techniques affords the opportunity to rapidly screen patients for a comprehensive panel of colorectal cancer susceptibility genes in a cost-effective fashion. This type of approach will probably replace the classical sequential approach based on clinical presumptive diagnoses in the near future. The risk of colorectal cancer is very high in affected patients in the absence of appropriate care. Clinical management is complex and should be provided in centers with special expertise in these diseases. This review focuses on the various colorectal adenomatous polyposis syndromes with special attention to more innovative and important aspects. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  7. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

    Directory of Open Access Journals (Sweden)

    Leoz ML

    2015-04-01

    Full Text Available Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña, Francesc Balaguer Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBERehd, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS, Barcelona, Catalonia, Spain Abstract: Familial adenomatous polyposis (FAP is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP. FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC, and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP. Keywords: colorectal cancer, familial adenomatous polyposis, MAP, APC, MUTYH

  8. Gastric and duodenal polyps in familial adenomatous polyposis patients: Conventional endoscopy vs virtual chromoendoscopy (fujinon intelligent color enhancement) in dysplasia evaluation.

    Science.gov (United States)

    Lami, Gabriele; Galli, Andrea; Macrì, Giuseppe; Dabizzi, Emanuele; Biagini, Maria Rosa; Tarocchi, Mirko; Messerini, Luca; Valanzano, Rosa; Milani, Stefano; Polvani, Simone

    2017-04-10

    To test the fujinon intelligent color enhancement (FICE) in identifying dysplastic or adenomatous polyps in familial adenomatous polyposis (FAP) patients. Seventy-six consecutive FAP patients, already treated by colectomy and members of sixty-five families, were enrolled. A FICE system for the upper gastro-intestinal tract with an electronic endoscope system and a standard duodenoscope (for side-viewing examination) were used by two expert examiners. Endoscopic resection was performed with diathermic loop for polyps ≥ 6 mm and with forceps for polyps < 6 mm. Formalin-fixed biopsy specimens were analyzed by two expert gastrointestinal pathologists blinded to size, location and number of FAP-associated fundic gland polyps. Sixty-nine (90.8%) patients had gastric polyps (34 only in the corpus-fundus, 7 only in the antrum and 28 in the whole stomach) and 52 (68.4%) in duodenum (7 in the bulb, 35 in second/third duodenal portion, 10 both in the bulb and the second portion of duodenum). In the stomach fundus after FICE evaluation, 10 more polyps were removed from 10 patients for suspicious features of dysplasia or adenomas, but they were classified as cystic fundic gland after histology. In the antrum FICE identified more polyps than traditional endoscopy, showing a better tendency to identify adenomas and displastic areas. In the duodenum FICE added a significant advantage in identifying adenomas in the bulb and identified more polyps in the II/III portion. FICE significantly increases adenoma detection rate in FAP patients but does not change any Spigelman stage and thus does not modify patient's prognosis and treatment strategies.

  9. Gastric and duodenal polyps in familial adenomatous polyposis patients: Conventional endoscopy vs virtual chromoendoscopy (fujinon intelligent color enhancement) in dysplasia evaluation

    Science.gov (United States)

    Lami, Gabriele; Galli, Andrea; Macrì, Giuseppe; Dabizzi, Emanuele; Biagini, Maria Rosa; Tarocchi, Mirko; Messerini, Luca; Valanzano, Rosa; Milani, Stefano; Polvani, Simone

    2017-01-01

    AIM To test the fujinon intelligent color enhancement (FICE) in identifying dysplastic or adenomatous polyps in familial adenomatous polyposis (FAP) patients. METHODS Seventy-six consecutive FAP patients, already treated by colectomy and members of sixty-five families, were enrolled. A FICE system for the upper gastro-intestinal tract with an electronic endoscope system and a standard duodenoscope (for side-viewing examination) were used by two expert examiners. Endoscopic resection was performed with diathermic loop for polyps ≥ 6 mm and with forceps for polyps gastrointestinal pathologists blinded to size, location and number of FAP-associated fundic gland polyps. RESULTS Sixty-nine (90.8%) patients had gastric polyps (34 only in the corpus-fundus, 7 only in the antrum and 28 in the whole stomach) and 52 (68.4%) in duodenum (7 in the bulb, 35 in second/third duodenal portion, 10 both in the bulb and the second portion of duodenum). In the stomach fundus after FICE evaluation, 10 more polyps were removed from 10 patients for suspicious features of dysplasia or adenomas, but they were classified as cystic fundic gland after histology. In the antrum FICE identified more polyps than traditional endoscopy, showing a better tendency to identify adenomas and displastic areas. In the duodenum FICE added a significant advantage in identifying adenomas in the bulb and identified more polyps in the II/III portion. CONCLUSION FICE significantly increases adenoma detection rate in FAP patients but does not change any Spigelman stage and thus does not modify patient’s prognosis and treatment strategies. PMID:28439498

  10. Association between the age and the development of colorectal cancer in patients with familial adenomatous polyposis: a multi-institutional study.

    Science.gov (United States)

    Kobayashi, Hirotoshi; Ishida, Hideyuki; Ueno, Hideki; Hinoi, Takao; Inoue, Yasuhiro; Ishida, Fumio; Kanemitsu, Yukihide; Konishi, Tsuyoshi; Yamaguchi, Tatsuro; Tomita, Naohiro; Matsubara, Nagahide; Watanabe, Toshiaki; Sugihara, Kenichi

    2017-04-01

    To investigate the incidence of colorectal cancer among familial adenomatous polyposis (FAP) patients by phenotype using the latest modalities. We collected data on 303 patients who underwent surgery for FAP at one of 23 institutions between 2000 and 2012. The incidence of colorectal cancer was investigated by phenotype. Colorectal cancer was diagnosed in 115 (38.0 %) of the 303 patients. Overall, colorectal cancer with the attenuated, sparse, and profuse phenotypes was diagnosed at 30, 31, and 28 years of age, respectively, in 10 % of the patients and at 59, 48, and 41 years of age, respectively, in 50 % of the patients (P = 0.013). The patients with colorectal cancer were older than those without colorectal cancer for all phenotypes. The optimal cut-off age for predicting the development of colorectal cancer in the attenuated, sparse, and profuse phenotypes was 46, 31, and 27 years, respectively. Patients with profuse and sparse phenotypes should undergo prophylactic proctocolectomy before their mid-to-late 20 s. On the other hand, the timing and type of surgery for patients with attenuated FAP (AFAP) should be decided individually with reference to the colonoscopic findings.

  11. Cap-assisted forward-viewing endoscopy to visualize the ampulla of Vater and the duodenum in patients with familial adenomatous polyposis.

    Science.gov (United States)

    Kallenberg, Frank G J; Bastiaansen, Barbara A J; Dekker, Evelien

    2017-02-01

    Background and study aims Guidelines recommend surveillance endoscopy with both forward- and side-viewing endoscopes to identify duodenal and ampullary adenomas in patients with familial adenomatous polyposis (FAP). We hypothesized that both the duodenum and the ampulla of Vater can be completely visualized during cap-assisted forward-viewing endoscopy. Patients and methods A total of 40 patients with FAP underwent forward-viewing endoscopy with a short cap attached to the tip of the gastroscope, with the aim of visualizing both the duodenum and the ampulla of Vater. If unsuccessful, the procedure was followed by a side-viewing endoscopy. Adverse events were reported. Results The duodenum, including the ampulla of Vater, was completely visualized using the cap in 38/40 patients (95.0 %). The ampulla could not be visualized using the cap in two patients, both of whom underwent additional side-viewing endoscopy, which was successful. No adverse events occurred. Conclusions This study showed that cap-assisted endoscopy can be used effectively and safely to visualize both the duodenum and the ampulla of Vater in patients with FAP. This practice might reduce burden, time, and costs of an additional side-viewing endoscopy. © Georg Thieme Verlag KG Stuttgart · New York.

  12. Guidelines for the clinical management of familial adenomatous polyposis (FAP)

    DEFF Research Database (Denmark)

    Vasen, H.F.; Moslein, G.; Alonso, A.

    2008-01-01

    BACKGROUND: Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for ...-one experts from nine European countries participated in these workshops. Prior to the meeting, various participants examined the most important management issues according to the latest publications. A systematic literature search using Pubmed and reference lists of retrieved articles, and manual searches...... be helpful in the appropriate management of FAP families. In order to improve the care of these families further, prospective controlled studies should be undertaken Udgivelsesdato: 2008/5...

  13. Sulphomucin expression in ileal pouches: emerging differences between ulcerative colitis and familial adenomatous polyposis pouches.

    LENUS (Irish Health Repository)

    Bambury, Niamh

    2012-02-03

    PURPOSE: We characterized the expression of sialomucin and sulphomucin in pouches fashioned for familial adenomatous polyposis and ulcerative colitis. We correlated sulphomucin expression with bacterial colonization and mucosal inflammation. METHODS: Ethical approval and informed consent were obtained. Mucosal biopsies from 9 patients with familial adenomatous polyposis and 12 with ulcerative colitis were obtained. Sulphomucin levels were assessed by using the high iron-diamine stain. Mucous gel layer composition was correlated with villous height, crypt depth, and total mucosal thickness. Mucous gel layer composition was correlated with acute and chronic inflammatory infiltrates. Colonization by a panel of seven bacterial species (including sulphate reducing bacteria) was established and correlated with sulphomucin levels. RESULTS: High-iron-diamine positivity (i.e., sulphomucin expression) was greater in ulcerative colitis pouch mucous gel (2.083 +\\/- 0.5 vs. 0.556 +\\/- 0.4, P = 0.003). Sulphomucin expression correlated with reduced crypt depth, villous height, and total mucosal thickness. In the ulcerative colitis group, chronic inflammatory infiltrate scores were significantly greater for high-iron-diamine-positive patients. Colonization by sulphate reducing bacteria was increased in high-iron-diamine-positive patients. CONCLUSIONS: Sulphomucin expression is increased in the mucous gel layer of the ulcerative colitis pouch compared with that of the familial adenomatous polyposis pouch. Sulphomucin expression is associated with colonization by sulphate-reducing bacteria and increased chronic inflammation.

  14. Celecoxib and tauro-ursodeoxycholic acid co-treatment inhibits cell growth in familial adenomatous polyposis derived LT97 colon adenoma cells.

    NARCIS (Netherlands)

    Heumen, B.W.H van; Schaap-Roelofs, H.M.J.; Morsche, R.H.M. te; Marian, B.; Nagengast, F.M.; Peters, W.H.M.

    2012-01-01

    Chemoprevention would be a desirable strategy to avoid duodenectomy in patients with familial adenomatous polyposis (FAP) suffering from duodenal adenomatosis. We investigated the in vitro effects on cell proliferation, apoptosis, and COX-2 expression of the potential chemopreventives celecoxib and

  15. Primary adenocarcinoma in the ileostomy of a woman with familial adenomatous polyposis: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Hammad Ahmed

    2011-11-01

    Full Text Available Abstract Introduction Ileal adenomas associated with familial adenomatous polyposis are a common finding. Many recent studies following panproctocolectomy for familial adenomatous polyposis have confirmed the presence of multiple ileal adenomas and an increase in ileal mucosal proliferation. In this study, we present a case of invasive adenocarcinoma arising in a severely dysplastic tubulovillous adenoma in the ileostomy of a patient with familial adenomatous polyposis; also, we present a literature review. To the best of our knowledge, only very few cases have been reported in the literature. Case presentation A 59-year-old Caucasian woman developed a primary adenocarcinoma in her ileostomy, complicating the stoma 31 years after its formation. Conclusions Primary adenocarcinoma following panproctocolectomy for familial adenomatous polyposis is a very rare clinical entity. The risk of developing adenocarcinoma in those patients increases with time. Patient education and medical examination of the stoma are of paramount importance and should be implemented early with the need of designing a surveillance protocol for early detection and management of ileal adenomas, especially in longstanding stomas.

  16. A proposed staging system and stage-specific interventions for familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Lynch, Patrick M; Morris, Jeffrey S; Wen, Sijin

    2016-01-01

    BACKGROUND: It is not possible to accurately count adenomas in many patients with familial adenomatous polyposis (FAP). Nevertheless, polyp counts are critical in evaluating each patient's response to interventions. However, the U.S. Food and Drug Administration no longer recognizes the decrease...... in polyp burden as a sufficient chemoprevention trial treatment endpoint requiring a measure of "clinical-benefit." To develop endpoints for future industry-sponsored chemopreventive trials, the International Society for Gastrointestinal Hereditary Tumors (InSIGHT) developed an FAP staging and intervention...

  17. Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

    DEFF Research Database (Denmark)

    Gallagher, Michelle C; Phillips, Robin K S; Bülow, Steffen

    2006-01-01

    develop colorectal cancer, but the lifetime risk of upper gastrointestinal cancer is lower, estimated at approximately 5%. Management of the upper gastrointestinal cancer risk is one of the greatest challenges facing clinicians involved in the care of Polyposis families, and with improved survival......Almost all patients affected by Familial Adenomatous polyposis (FAP) will develop foregut as well as hindgut polyps, and following prophylactic colectomy duodenal cancer constitutes one of the leading causes of death in screened populations. Without prophylactic colectomy, FAP patients predictably...... following prophylactic colectomy, the burden of foregut disease (particularly duodenal adenomatosis) will increase. Until recently, the value of upper gastrointestinal surveillance in FAP populations has been contentious, but with improved understanding of the natural history coupled with developments...

  18. Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

    DEFF Research Database (Denmark)

    Gallagher, Michelle C; Phillips, Robin K S; Bülow, Steffen

    2006-01-01

    Almost all patients affected by Familial Adenomatous polyposis (FAP) will develop foregut as well as hindgut polyps, and following prophylactic colectomy duodenal cancer constitutes one of the leading causes of death in screened populations. Without prophylactic colectomy, FAP patients predictably...... develop colorectal cancer, but the lifetime risk of upper gastrointestinal cancer is lower, estimated at approximately 5%. Management of the upper gastrointestinal cancer risk is one of the greatest challenges facing clinicians involved in the care of Polyposis families, and with improved survival...... following prophylactic colectomy, the burden of foregut disease (particularly duodenal adenomatosis) will increase. Until recently, the value of upper gastrointestinal surveillance in FAP populations has been contentious, but with improved understanding of the natural history coupled with developments...

  19. Eviendep® reduces number and size of duodenal polyps in familial adenomatous polyposis patients with ileal pouch-anal anastomosis.

    Science.gov (United States)

    Calabrese, Carlo; Praticò, Chiara; Calafiore, Andrea; Coscia, Maurizio; Gentilini, Lorenzo; Poggioli, Gilberto; Gionchetti, Paolo; Campieri, Massimo; Rizzello, Fernando

    2013-09-14

    To evaluate if 3 mo oral supplementation with Eviendep® was able to reduce the number of duodenal polyps in familial adenomatous polyposis (FAP) patients with ileal pouch-anal anastomosis (IPAA). Eleven FAP patients with IPAA and duodenal polyps were enrolled. They underwent upper gastrointestinal (GI) endoscopy at the baseline and after 3 mo of treatment. Each patient received 5 mg Eviendep twice a day, at breakfast and dinner time, for 3 mo. Two endoscopists evaluated in a blinded manner the number and size of duodenal polyps. Upper GI endoscopies with biopsies were performed at the baseline (T0) with the assessment of the Spigelman score. Polyps > 10 mm were removed during endoscopy and at the end of the procedure a new Spigelman score was determined (T1). The procedure was repeated 3 mo after the baseline (T2). Four photograms were examined for each patient, at T1 and T2. The examined area was divided into 3 segments: duodenal bulb, second and third portion duodenum. Biopsy specimens were taken from all polyps > 10 mm and from all suspicious ones, defined by the presence of a central depression, irregular surface, or irregular vascular pattern. Histology was classified according to the updated Vienna criteria. At baseline the mean number of duodenal detected polyps was 27.7 and mean sizes were 15.8 mm; the mean Spigelman score was 7.1. After polypectomy the mean number of duodenal detected polyps was 25.7 and mean sizes were 7.6 mm; the mean Spigelman score was 6.4. After 3 mo of Eviendep bid, all patients showed a reduction of number and size of duodenal polyps. The mean number of duodenal polyps was 8 (P = 0.021) and mean size was 4.4 mm; the mean Spigelman score was 6.6. Interrater agreement was measured. Lesions > 1 cm found a very good degree of concordance (kappa 0.851) and a good concordance was as well encountered for smaller lesions (kappa 0.641). Our study demonstrated that short-term (90 d) supplementation with Eviendep® in FAP patients with IPAA

  20. Cribiform variant of papillary thyroid cancer and familial adenomatous polyposis

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    E. Perea del Pozo

    2015-01-01

    Conclusions: The diagnosis of CMV of PTC is very strongly related to the FAP syndrome and must be suspected when a thyroid node appears in FAP patients. Likewise, any patient without known FAP who presents this histology in a surgically biopsied or resected thyroid node should undergo total colonoscopy for screening of colonic polyposis and genetic study of the APC gene sequence.

  1. Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

    Science.gov (United States)

    Cruz-Correa, Marcia; Diaz-Algorri, Yaritza; Mendez, Vanessa; Vazquez, Pedro Juan; Lozada, Maria Eugenia; Freyre, Katerina; Lathroum, Liselle; Gonzalez-Pons, Maria; Hernandez-Marrero, Jessica; Giardiello, Francis; Rodriguez-Quilichini, Segundo

    2013-09-01

    Several genetically defined hereditary colorectal cancer (CRC) syndromes are associated with colonic polyposis including familial adenomatous polyposis (FAP) and MUTYH adenomatous polyposis (MAP). Limited data exists on the clinical characterization and genotypic spectrum of polyposis syndromes among Hispanics. To describe the phenotype and genotype of Puerto Rican Hispanic patients with FAP and MUTYH and compare with other ethnic and racial groups. Probands were identified from the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Recruited individuals completed risk factors, medical, and family history questionnaires and underwent genetic testing for genotype analysis. Frequency analysis, Chi square, Fisher's exact and Wilcoxon rank-sum tests were used for statistical analysis methods. A total of 31 FAP (from 19 families) and 13 MAP (from 13 families) Hispanic patients recruited from the PURIFICAR were evaluated. Among the FAP cases, mean age at diagnosis was 27.6 (range 9-71 years); 67.7 % cases had more than 100 polyps and 41.9 % had upper gastrointestinal polyps. Among the 19 FAP families, there were 77 affected FAP individuals and 26 colorectal cancer cases. Genetic mutations were available for 42.2 % of FAP families; all mutations identified were unique. Surgeries were reported in 31 cases; 14 (45.2 %) prophylactic surgeries and 6 (19.4 %) therapeutic surgeries for management of CRC. Among MAP cases, mean age at diagnosis was 53 (range 34-76 years). Genetic analysis revealed homozygous biallelic mutations (G382D) in 53.8 %, compound heterozygous mutations (G382/Y165C) in 23 %, and non-G382/Y165C monoallelic mutations in 23 %. Familial cancer registries should be promoted as vehicles for detection, education and follow up of families at-risk of acquiring familial cancers. PURIFICAR is the first and only familial cancer registry in Puerto Rico providing these services to families affected with familial cancer syndromes promoting education, testing

  2. Relationship between Fecal Content of Fatty Acids and Cyclooxygenase mRNA Expression and Fatty Acid Composition in Duodenal Biopsies, Serum Lipoproteins, and Dietary Fat in Colectomized Familial Adenomatous Polyposis Patients

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    K. Almendingen

    2010-01-01

    Full Text Available A few familial adenomatous polyposis studies have focused upon faecal sterols and bile acids but none has analysed the fecal content of fatty acids. We report here findings of an observational study on 29 colectomized familial adenomatous polyposis patients that describe the fecal content of fatty acids, and relate this to the proportions of fatty acids and levels of cyclooxygenase mRNA expression in duodenal biopsies, levels of serum lipoproteins, and diet. In the ileostomy group separately (n=12, the fecal content of arachidonic acid was correlated negatively to the proportions of eicosapentaenoic acid and docosahexaenoic acid in duodenal biopsies. Total serum-cholesterol was negatively correlated to the fecal content of saturates and monounsaturates. The fecal palmitoleic acid/palmitic acid ratio was positively correlated to the levels of cyclooxygease-2 expression in duodenal biopsies.In the ileal-pouch-anal anastomosis group separately (n=17, significant correlations were found between the fecal contents of oleic acid, linoleic acid, and alpha-linolenic acid, and the proportions of myristic acid, oleic acid and eicosaenoic acid in duodenal biopsies. Dietary monounsaturates were positively correlated to different fecal fatty acids. Future studies should focus on molecular mechanisms relevant to fatty acid metabolism, inflammation, and angiogenesis, in addition to nutrition.

  3. [Proctocolectomy with ileoanal anastomoses and desmoid tumor treated with resection. One case of familial adenomatous polyposis].

    Science.gov (United States)

    Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Méndez-Sashida, Pedro Gonzalo

    2014-01-01

    Familial adenomatous polyposis (FAP) is a rare disease caused by a mutation in the adenomatous polyposis coli gene (APC). We report the case of a 32-year-old woman, with abdominal pain and increased abdominal perimeter, as well as melena and weight loss. She had a tumor of 12 cm in diameter in the right iliac fossa. After the administration of contrast media we found the abdominal tumor compatible with sarcoma versus desmoid tumor. We performed a colonoscopy and we found colorectal polyps. The biopsy reported tubulovillous adenomas. A panendoscopy showed polyps in fundus and body of stomach; the state of the duodenum was normal. Tumor resection was performed with abdominal wall reconstruction with mesh and restorative proctocolectomy with ileoanal reservoir and a temporary ileostomy. The histopathology report demonstrated an abdominal wall desmoid tumor and identified 152 tubulovillous polyps which affected all the portions of colon and rectum. FAP is an autosomal dominant disease caused by a mutation in the APC gene which results in the development of multiple colorectal polyps. Described in 1991 the APC gene is located at chromosome region 5q21. Without prophylactic surgery, virtually all patients develop colorectal cancer in the third decade of life. Desmoid tumors and duodenal polyps are now the leading cause of death in patients with FAP.

  4. Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis.

    Science.gov (United States)

    Liu, Cheng; Gallagher, Renee L; Price, Gareth R; Bolton, Elizabeth; Joy, Christopher; Harraway, James; Venter, Deon J; Armes, Jane E

    2016-11-01

    Microcystic stromal tumor (MST) is a rare tumor of presumed sex-cord stromal differentiation. We present a case of MST arising within a patient with constitutional 5q deletion syndrome, whose deletion encompassed the APC gene. Genomic analysis of the MST revealed a point mutation in the remaining APC allele, predicted to result in abnormal splicing of Exon 7. Subsequent clinical investigation revealed multiple gastrointestinal polyps qualifying for a diagnosis of familial adenomatous polyposis. This case emphasizes the importance of an aberrant Wnt/β-catenin pathway in the development of MST and adds credence to the inclusion of MST as a rare phenotype of familial adenomatous polyposis. In a search for additional genetic aberrations which may contribute to the development of this rare tumor, genomic analysis revealed a frameshift mutation in FANCD2, a protein which plays a key role in DNA repair. This protein is expressed in human ovarian stromal cells and FANCD2-knockout mice are known to develop sex cord-stromal tumors, factors which further support a possible role of aberrant FANCD2 in the development of MST.

  5. Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included Registro Andaluz de la Poliposis Adenomatosa Familiar: Análisis de los pacientes incluidos

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    M. Garzón Benavides

    2010-11-01

    Full Text Available Objective: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. Material and methods: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. Results: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51 and 46 relatives at risk with a mean age of 21.8 years (6-55. Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC at the time of diagnosis (32.2%. Only two affected relatives showed CRC at diagnosis (4.3%, a statistically significant difference (p Objetivos: Valorar las características fenotípicas y genotípicas de los pacientes incluidos en el Registro Andaluz de la poliposis adenomatosa familiar, la relación genotipo/fenotipo y el impacto del Registro en la frecuencia de cáncer colorrectal de los familiares registrados. Material y métodos: Estudio descriptivo de 77 pacientes con PAF, pertenecientes a 33 familias, incluidos en una base de datos centralizada a la que tienen acceso los responsables de los hospitales participantes, previa firma de cartas de confidencialidad. Todos los estudios genéticos se realizan en el Servicio de Inmunología de nuestro Hospital. Resultados: 77 pacientes registrados (50,6% varones: 31 probandos, edad media: 32 años (13-51 y 46 familiares afectos, edad media 21,8 años (6-55. Estudio genético informado en 68/77 con resultado positivo en 92,6%. Cáncer colorrectal al diagnóstico en diez probandos (32,2% y 2 familiares afectos (4,3%, diferencia estad

  6. Immunohistochemical changes of maxillary sinus mucosa with underlying adenomatous polyposis

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    Yu. M. Andreychyn

    2017-04-01

    Full Text Available In maxillary sinusitis pathogenesis researchers paid much attention to the role of paranasal sinuses, sinus drainage dysfunctions, mucocyliary transport system disorders in cases of damage of sinuses mucous membranes. Pathohistological, immunohistochemical and morphometric studies of mucosa were conducted. However, to evaluate the local inflammatory response in cases of chronic sinusitis and improvement of individual therapy for the patients, the immunohistochemical studies of the composition of inflammatory immunocyte infiltrates of paranasal sinus mucosa and adenoid vegetations bioptate would be reasonable. The aim of the research was to study the immunohistochemical content of immunocyte infiltrates of paranasal sinuses adenomatous polyps in biopsy samples of patients suffering from chronic sinusitis. Materials and Methods. Paranasal sinuses adenomatous polyps removed during surgery of 22 patients suffering from chronic maxillary sinusitis were studied. Immunohistochemical studies of paraffin sections of the removed polyps were performed using appropriate primary antibodies and visualization systems DAKO EnVision+ System (DAKO, Denmark. Results. During microscopic investigation of paranasal sinuses adenomatous polyps of the patients suffering from chronic sinusitis, moderate and severe immunocyte infiltration of polyp stroma sometimes with focal follicular structures was presented. Immunohistochemical investigation of the cellular composition of these infiltrates proved the presence of CD8+ T-killer cells, CD4+ T-helper cells, CD68+ macrophages as well as single plasma cells. The irregularity of these cells markers expression was determined in dependence of the severity of inflammatory cell infiltration. Conclusions. In the patients with chronic maxillary polyp sinusitis with mild and moderate immunocyte infiltration of paranasal sinus mucosa, among immune cells the CD4+ T-lymphocytes occupied the most relative area in polyp stroma, plasma

  7. Familial Adenomatous Polyposis (FAP):Genotype Correlation to FAP Phenotype With Osteomas and Sebaceous Cysts

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Bülow, Steffen

    2006-01-01

    and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...... mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium...

  8. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Bülow, Steffen

    2006-01-01

    and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...... mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium...

  9. Pouch Salvage Surgery for Treatment of Colitis and Familial Adenomatous Polyposis: Report of Five Cases

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    Derakhshani

    2016-08-01

    Full Text Available Introduction The restorative proctocolectomy (RPC with ileal pouch-anal anastomosis (IPAA is currently the preferred surgical method for most patients with ulcerative colitis and familial adenomatous polyposis and sometimes, functional bowel diseases. Infection around the pouch, remaining rectal stump, stricture at anastomosis site, pouch dysfunction and refractory pouchitis can lead to pouch failure. Pouch salvage surgery could prevent pouch failure in some cases. Case Presentation In this report, five patients were introduced, who underwent pouch salvage surgery after RPC/IPAA surgery failure. Two of the patients were male and three were female and the relevant age range was 16 to 41. Initially, RPC/IPAA surgery was performed on these five patients. Four of the patients underwent RPC/IPAA surgery as a result of ulcerative colitis and, one of the patients as a result of familial adenomatous polyposis. However, due to pouch failure from the RPC/IPAA surgery, pouch-salvage surgery was performed on each of these five patients. Two of the patients underwent pouch-salvage surgery due to infection and pouch fistula, and the other three underwent this surgery due to the remaining rectal stump, anastomosis stenosis and pouch dysfunction. The average time for when pouch-salvage surgery was performed was 3.5 years (three months to five years after the initial operation and the patients were under follow-up care for two to seven years. Conclusions After performing pouch salvage operation, pouch function was acceptable in all patients and we could close ileostomies of all of them.

  10. Multidetector-row CT duodenography in familial adenomatous polyposis: a pilot study

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    Taylor, S.A.; Halligan, S. E-mail: s.halligan@imperial.ac.uk; Moore, L.; Saunders, B.P.; Gallagher, M.; Phillips, R.K.S.; Bartram, C.I

    2004-10-01

    AIM: To investigate the feasibility of using multidetector-row computed tomography (CT) duodenography to stage duodenal polyposis in patients with familial adenomatous polyposis. MATERIALS AND METHODS: Six patients underwent multidetector-row CT duodenography before upper gastrointestinal endoscopy. A single-blinded radiologist used a surface shaded three-dimensional endoluminal fly though and two-dimensional axial and multiplanar reformats to assign a score for maximum polyp size and number based on the Spigelman classification. Comparison was made with the corresponding Spigelman scores obtained from subsequent endoscopy. RESULTS: CT duodenography was technically successful in five of six patients. The CT derived Spigelman score based on maximum polyp size was accurate in all five patients. The CT derived Spigelman score based on polyp number was accurate in only two cases: Polyp number was overestimated in one patient and underestimated in a further two. In retrospect, fine carpeting of tiny duodenal polyps was poorly visualized with CT. CONCLUSIONS: CT duodenography is technically feasible and accurately predicts maximum polyp size but CT estimates of polyp number are relatively inaccurate. CT duodenography potentially has a useful role for duodenal surveillance in those patients intolerant of conventional endoscopy.

  11. Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2

    NARCIS (Netherlands)

    Ruane, Peter T; Gumy, Laura F|info:eu-repo/dai/nl/337608334; Bola, Becky; Anderson, Beverley; Wozniak, Marcin J; Hoogenraad, Casper C|info:eu-repo/dai/nl/227263502; Allan, Victoria J

    2016-01-01

    Microtubules and their associated proteins (MAPs) underpin the polarity of specialised cells. Adenomatous polyposis coli (APC) is one such MAP with a multifunctional agenda that requires precise intracellular localisations. Although APC has been found to associate with kinesin-2 subfamily members,

  12. Dento-osseous anomalies associated to familial adenomatous polyposis mimicking florid cemento-osseous dysplasia.

    Science.gov (United States)

    Almeida, Fabiana Tolentino; Leite, André Ferreira; de Souza Figueiredo, Paulo Tadeu; Melo, Nilce Santos; Sousa, João Batista; Almeida, Rômulo; Acevedo, Ana Carolina; Silva Guerra, Eliete Neves

    2012-12-01

    Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome characterized by the development of multiple polyps of the colon and rectum with high risk of malignant transformation. The extraintestinal manifestations such as dento-osseous changes are associated with FAP. This is a case report of a 36-year-old female patient who was referred for dental treatment with the initial diagnosis of florid cemento-osseous dysplasia (FCOD). However, the association of the imaging dento-osseous findings with the medical history confirmed the diagnosis of FAP. The paper illustrates the clinical characteristics and imaging findings associated with FAP, and also discusses misdiagnosis based exclusively on imaging features. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  13. Adenocarcinoma in the anal canal after ileal pouch-anal anastomosis for familial adenomatous polyposis using a double-stapled technique: report of two cases

    NARCIS (Netherlands)

    Vrouenraets, Bart C.; van Duijvendijk, Peter; Bemelman, Willem A.; Offerhaus, G. Johan A.; Slors, J. Frederik M.

    2004-01-01

    Restorative proctocolectomy with an ileal pouch-anal anastomosis is thought to abolish the risk of colorectal adenoma development in patients suffering from familial adenomatous polyposis. Both after mucosectomy with a handsewn anastomosis and after a double-stapled anastomosis, rectal mucosa is

  14. The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis

    NARCIS (Netherlands)

    Lopez-Ceron, Maria; van den Broek, Frank J. C.; Mathus-Vliegen, Elisabeth M.; Boparai, Karam S.; van Eeden, Susanne; Fockens, Paul; Dekker, Evelien

    2013-01-01

    The Spigelman classification stratifies cancer risk in familial adenomatous polyposis (FAP) patients with duodenal adenomatosis. High-resolution endoscopy (HRE) and narrow-band imaging (NBI) may identify lesions at high risk. To compare HRE and NBI for the detection of duodenal and gastric polyps

  15. Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X

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    Orestis Ioannidis

    2012-03-01

    Full Text Available Familial adenomatous polyposis (FAP is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.

  16. Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

    Science.gov (United States)

    Aretz, Stefan; Stienen, Dietlinde; Friedrichs, Nicolaus; Stemmler, Susanne; Uhlhaas, Siegfried; Rahner, Nils; Propping, Peter; Friedl, Waltraut

    2007-10-01

    Somatic mutational mosaicism presents a challenge for both molecular and clinical diagnostics and may contribute to deviations from predicted genotype-phenotype correlations. During APC mutation screening in 1,248 unrelated patients with familial adenomatous polyposis (FAP), we identified 75 cases with an assumed or confirmed de novo mutation. Prescreening methods (protein truncation test [PTT], DHPLC) indicated the presence of somatic mosaicism in eight cases (11%). Sequencing of the corresponding fragments revealed very weak mutation signals, pointing to the presence of either nonsense or frameshift mutations at low level. All mutations were confirmed and quantified by SNaPshot analysis: in leukocyte DNA from the eight patients, the percentage of mosaicism varied between 5.5% and 77%, while the proportion of the mutation in DNA extracted from adenomas of the respective patient was consistently higher. The eight mutations identified as mosaic are localized within codons 216-1464 of the APC gene. According to the known genotype-phenotype correlation, patients with mutations in this region exhibit typical or severe FAP. However, six of the eight patients presented with an attenuated or atypical polyposis phenotype. Our data demonstrate that in a fraction of FAP patients the causative APC mutation may not be detected due to weak signals or somatic mosaicism that is restricted to tissues other than blood. SNaPshot analysis was proven to be an easy, rapid, and reliable method of confirming low-level mutations and evaluating the degree of mosaicism. Some of the deviations from the expected phenotype in FAP can be explained by the presence of somatic mosaicism. Copyright 2007 Wiley-Liss, Inc.

  17. Colonic Interposition in a Woman with Attenuated Familial Adenomatous Polyposis: Does the Location of the Colon Affect Polyp Formation?

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    Melanie D Beaton

    2008-01-01

    Full Text Available Attenuated familial adenomatous polyposis (AFAP is a rare but well-established cause of colorectal carcinoma and multiple polyps. The present paper describes a case of a woman diagnosed with colorectal cancer at 34 years of age and subsequently found to have AFAP by genetic testing. During infancy, the patient underwent surgical correction of esophageal atresia with colonic interposition. While she had developed adenomatous polyps in her native cecum, there was no evidence of polyps or cancer in the segment of large intestine interposed between her upper esophagus and stomach. Therefore, various environmental differences between the upper and lower gastrointestinal tract may play a role in the expression of AFAP phenotype.

  18. Two Metachronous Neoplasms in the Radiotherapy Fields of a Young Man With Familial Adenomatous Polyposis

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    Patrick A. Williams BS

    2013-04-01

    Full Text Available Background: It is recognized that various radiation-induced malignancies often follow childhood radiotherapy. Radiation-induced neoplasms have been shown to occur with increased frequency in syndromes due to mutated tumor suppressor genes. There exist no recommendations for the management of cancer patients with germline APC gene mutations. Preclinical data suggest that APC gene mutations cause enhanced radiosensitivity, but no clinical observations exist that show that patients with this mutation are at higher risk for radiation-induced malignancies. Results: We report the case of a 32-year-old man with a genetic diagnosis of familial adenomatous polyposis (FAP who initially presented at age 10 with a medulloblastoma treated with radiotherapy and surgery. Radiation-induced papillary thyroid carcinoma followed 13 years later. Finally, radiation-induced soft tissue osteosarcoma occurred with widespread metastasis 20 years thereafter. Conclusions: This is the first report of 2 malignancies in the prior radiotherapy fields of a patient with a genetic diagnosis of FAP. More important, this suggests that APC-defective cells are at an enhanced sensitivity to the carcinogenic effects of radiotherapy compared with APC-proficient cells. This could argue for genetic screening in affected members of these families and for creation of treatment recommendations to more seriously consider the risks of radiation therapy.

  19. APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

    Science.gov (United States)

    Andresen, Per Arne; Heimdal, Ketil; Aaberg, Kristin; Eklo, Katrine; Eklo, Kristin; Ariansen, Sarah; Silye, Alexandra; Fausa, Olav; Aabakken, Lars; Aretz, Stefan; Eide, Tor J; Gedde-Dahl, Tobias

    2009-10-01

    Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease caused by mutations in the adenomatous polyposis coli (APC) gene. Massive formation of colorectal adenomas, of which some will inevitably develop into adenocarcinomas, is the hallmark of the disease. Characterization of causative APC mutations allows presymptomatic diagnosis, close follow-up and prophylactic intervention in families. To date more than 900 different germline mutations have been characterized worldwide demonstrating allelic heterogeneity. The germline mutation spectrum of APC identified in 69 apparently unrelated Norwegian FAP families are presented and discussed with reference to clinical phenotype and novel mutation rate. Different methods have been used over the years. However, all mutations were confirmed detectable by an implemented denaturing high-performance liquid chromatography screening approach. Multiplex ligation-dependent probe amplification analysis was employed for potential gross rearrangements. Fifty-three distinctive mutations were detected, of which 22 have been detected in Norway exclusively. Except for two major deletion mutations encompassing the entire APC, all mutations resulted in premature truncation of translation caused by non-sense (31%) or change in reading frame (69%). A high ratio of novel APC mutations continues to contribute to APC mutation heterogeneity causing FAP. This is the first comprehensive report of APC germline mutation spectrum in Norway.

  20. Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

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    Johannsson Oskar

    2008-11-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations. Methods Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify APC gene mutations, which were correlated to the clinical presentations. Results 10 novel APC gene mutations were identified in 11 families. A broad spectrum of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA developed colon cancer at age 72 as the first manifestation of attenuated FAP. Conclusion With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer.

  1. adenomatous polyposis coli in an elderly female nigerian

    African Journals Online (AJOL)

    2009-09-01

    Sep 1, 2009 ... However, the unavailability of in-vitro protein synthe- sis assay (or other appropriate genetic testing) makes it difficult to confirm this in the index case. The patient's only child (45year old daughter) is asymptomatic, and does not have colonic polyps on colonoscopy. Efforts to establish an extended family tree ...

  2. Attenuated familial adenomatous polyposis (AFAP). A review of the literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Lyster; Bisgaard, Marie Luise; Bülow, Steffen

    2003-01-01

    penetrance of CRC appears to be high, CRC does not seem to develop in nearly all affected patients. A more limited expression of the extracolonic features is seen, but gastric and duodenal adenomas are frequently encountered. Colonoscopy is preferred to sigmoidoscopy, should begin at the age of 20-25 years...... with a few kindreds--and the diagnostic criteria and methods of investigation differ markedly. The true incidence and frequency of AFAP is not known. The mutations in APC associated with AFAP have mainly been detected in three parts of the gene: in the 5' end (the first five exons), in exon 9...... and in the distal 3' end. The main features of AFAP are 100 or less colorectal adenomas with a tendency to rectal sparing, a delay in onset of adenomatosis and bowel symptoms of 20-25 years, a delay in onset of colorectal cancer (CRC) of 10-20 years and death from CRC of 15-20 years, and although the lifetime...

  3. Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2.

    Science.gov (United States)

    Ruane, Peter T; Gumy, Laura F; Bola, Becky; Anderson, Beverley; Wozniak, Marcin J; Hoogenraad, Casper C; Allan, Victoria J

    2016-06-07

    Microtubules and their associated proteins (MAPs) underpin the polarity of specialised cells. Adenomatous polyposis coli (APC) is one such MAP with a multifunctional agenda that requires precise intracellular localisations. Although APC has been found to associate with kinesin-2 subfamily members, the exact mechanism for the peripheral localization of APC remains unclear. Here we show that the heavy chain of kinesin-1 directly interacts with the APC C-terminus, contributing to the peripheral localisation of APC in fibroblasts. In rat hippocampal neurons the kinesin-1 binding domain of APC is required for its axon tip enrichment. Moreover, we demonstrate that APC requires interactions with both kinesin-2 and kinesin-1 for this localisation. Underlining the importance of the kinesin-1 association, neurons expressing APC lacking kinesin-1-binding domain have shorter axons. The identification of this novel kinesin-1-APC interaction highlights the complexity and significance of APC localisation in neurons.

  4. A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Burn, John; Bishop, D Timothy; Chapman, Pamela D

    2011-01-01

    Evidence supporting aspirin and resistant starch (RS) for colorectal cancer prevention comes from epidemiologic and laboratory studies (aspirin and RS) and randomized controlled clinical trials (aspirin). Familial adenomatous polyposis (FAP) strikes young people and, untreated, confers virtually...

  5. Adenomatous Polyposis Coli, mismatch repair, and microsatellite instability in colorectal cancer based on different locations.

    Science.gov (United States)

    Effendi-Y S, Rustam; Zain, Lukman H; Siregar, Gontar A; Lubis, Harun R; Damanik, Harun A; Laksmi, Lidya I; Chrestella, Jessy

    2013-10-01

    to examine the protein expression negative (PEN) of Adenomatous Polyposis Coli (APC), Mismatch Repair (MMR), and Microsatellite Instability (MSI) status of colorectal cancer (CRC), and establish a comparison of those molecular characteristics in CRC location among Indonesian patients in Adam Malik Hospital, Pirngadi Hospital, and other hospitals within the network of Faculty of Medicine University of Sumatera Utara Medan Indonesia. this prospective study was conducted from April to December 2012. Fresh tissues were obtained from colorectal tumor patients. The APC-PEN, MMR (MLH1, MSH2, PMS2, MSH6)-PEN, were assessed by immunohistochemistry, and MSI by PCR using 5 microsatellite markers (BAT25, BAT26, D2S123, D5S346, D17S250), as independent variables. The tumour locations as dependent variables were divided into proximal colon (caecum, ascending colon, transverse colon); distal colon (splenic flexure, descending colon, sigmoid) and rectum. The comparative study were done by bivariate and multivariate analysis. there were 77 cases of colorectal adenocarsinoma. MMR-PEN was found in 54 of 77 (70.1%). MLH1-PEN was different between distal colon and rectal cancer (p=0.008); MSH6-PEN was different between proximal colon and rectal cancer (p= 0.020). Multivariate analysis showed: MLH1-PEN was related to cancer location (p=0.006) with OR 0.12 (95% CI 0.026-0.547). It had 0.12 times probability to be found in distal than rectum. MLH1-PEN had 10 times higher probability to be found in proximal than in distal (p=0.037). MSH6-PEN was related to the location (p=0.026) with OR 0.165 (95% CI 0.034-0.803), and had 0.165 times probability to be found in proximal than rectum; and 11 times higher probability in distal than proximal colon (p=0.043). APC-PEN was related to the location (p=0.020), with OR 6.897 (95% CI 1.359-34.995), and 6.89 times higher probability in distal than in rectum, with other variables controlled. MSI-H was found in 29 of 77 (37.7%) and MSI-L/MSS in 48 (62

  6. Clinical characteristics and outcomes in familial adenomatous polyposis patients with a long-term treatment of celecoxib: a matched cohort study

    DEFF Research Database (Denmark)

    Huang, Kui; Gutierrez, Lia P; Bülow, Steffen

    2011-01-01

    -treated patients were recruited and a matched control was identified for 13 of these patients. The Kaplan-Meier estimated probability of not having a polypectomy 12 and 60 months post- ileorectal anastomosis in the celecoxib-treated patients (n = 33) was 60.6% and 42.2%, respectively. The estimated probability...

  7. Proctocolectomy and ileal J-pouch anal anastomosis on the surgical treatment of familial adenomatous polyposis and ulcerative colitis: analysis of 49 cases

    Directory of Open Access Journals (Sweden)

    Bruno Amaral Medeiros

    2012-09-01

    Full Text Available OBJECTIVE: To evaluate the results of ileal J-pouch anal anastomosis in ulcerative colitis and familial adenomatous polyposis. METHOD: Retrospective analysis of medical records of 49 patients submitted to ileal J-pouch anal anastomosis. RESULTS: Ulcerative colitis was diagnosed in 65% and familial adenomatous polyposis in 34%. Mean age was 39.5 years. 43% were male. Among familial adenomatous polyposis, 61% were diagnosed with colorectal cancer. Thirty-one percent of patients with ulcerative colitis was submitted to a previous surgical approach and 21% of these had toxic megacolon. Average hospital stay was 10 days. Post-operative complications occurred in 50% of patients with ulcerative colitis and 29.4% with familial adenomatous polyposis. Intestinal diversion was performed in 100% of ulcerative colitis and 88% of familial adenomatous polyposis. Pouchitis occurred in eight cases (seven ulcerative colitis and one FAP, requiring excision of the pouch in three ulcerative colitis. Mortality rate was 7.6%: two cases of carcinoma on the pouch and two post-operative complications. Late post-operative complications occurred in 22.4%: six familial adenomatous polyposis and five ulcerative colitis. Two patients had erectile dysfunction, and one retrograde ejaculation. One patient with severe perineal dermatitis was submitted to excision of the pouch. Incontinence occurred in four patients and two reported soil. Mean bowel movement was five times a day. CONCLUSION: Ileal J-pouch anal anastomosis is a safe surgery with acceptable morbidity and good functional results, if well indicated and performed in referral centers.OBJETIVO: Avaliar resultados da anastomose íleo-anal com bolsa ileal em J na colite ulcerativa e na polipose adenomatosa familiar. MÉTODO: Análise retrospectiva dos prontuários de 49 pacientes submetidos a anastomose íleo-anal com bolsa ileal em J. RESULTADOS: 65% de colite ulcerativa e 34% de polipose adenomatosa familiar. Idade m

  8. Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome.

    Science.gov (United States)

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2014-12-01

    Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. In contrast to most cancers where these mutations are acquired, patients with hereditary cancer syndromes have inherited genomic aberrations. The understanding of the molecular pathobiology in hereditary cancer syndromes has advanced dramatically. In addition, many molecularly targeted therapies have been developed that could have potential roles in the treatment of patients with hereditary cancer syndromes. In this review, we outline the presentation, molecular biology, and possible targeted therapies for two of the most widely recognized hereditary cancer syndromes -- hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome). We will also discuss other syndromes such as familial adenomatous polyposis and Li-Fraumeni syndrome (TP53).

  9. Aspirin augments the expression of Adenomatous Polyposis Coli protein by suppression of IKKβ

    Energy Technology Data Exchange (ETDEWEB)

    Ashida, Noboru, E-mail: nashida@kuhp.kyoto-u.ac.jp [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Kishihata, Masako [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Tien, Dat Nguyen [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Department of Biomolecular Engineering, Kyoto Institute of Technology, Kyoto (Japan); Kamei, Kaeko [Department of Biomolecular Engineering, Kyoto Institute of Technology, Kyoto (Japan); Kimura, Takeshi [Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Yokode, Masayuki [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan)

    2014-04-04

    Highlights: • Clinical studies revealed aspirin inhibits cancer, but the mechanism is not known. • Adenomatous Polyposis Coli (APC) is a well-known tumor-suppressing gene. • We found aspirin up-regulates the protein of APC. • Aspirin suppressed the expression of IKKβ, an essential kinase in NFκB activation. • The deletion of IKKβ significantly increases the expression of APC protein. - Abstract: Aspirin has been widely used as analgesic, antipyretic and anti-inflammatory medicine for long. In addition to these traditional effects, clinical studies suggest that aspirin can protect against cancer, but its mechanism has not been explored. To unveil it, we identified the proteins up- or down-regulated after incubation with aspirin by using proteomics analysis with Nano-flow LC/MALDI-TOF system. Interestingly, the analysis identified the protein of Adenomatous Polyposis Coli (APC) as one of the most up-regulated protein. APC regulates cell proliferation or angiogenesis, and is widely known as a tumor-suppressing gene which can cause colorectal cancer when it is mutated. Western blots confirmed this result, and real-time PCR indicated it is transcriptionally regulated. We further tried to elucidate the molecular mechanism with focusing on IKKβ. IKKβ is the essential kinase in activation of nuclear factor-kappa B (NF-κB), major transcriptional factors that regulate genes responsible for inflammation or immune response. Previous reports indicated that aspirin specifically inhibits IKKβ activity, and constitutively active form of IKKβ accelerates APC loss. We found that aspirin suppressed the expression of IKKβ, and the deletion of IKKβ by siRNA increases the expression of APC in HEK294 cells. Finally, we observed similar effects of aspirin in human umbilical vein endothelial cells. Taken together, these results reveal that aspirin up-regulates the expression of APC via the suppression of IKKβ. This can be a mechanism how aspirin prevents cancer at

  10. Transcriptional changes between uninflamed ulcerative colitis and familial adenomatous polyposis pouch mucosa can be attributed to an altered immune response.

    Science.gov (United States)

    Paziewska, Agnieszka; Horbacka, Karolina; Goryca, Krzysztof; Mikula, Michal; Jarosz, Dorota; Dabrowska, Michalina; Krokowicz, Piotr; Karon, Jacek; Ostrowski, Jerzy

    2015-01-01

    A total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is considered the surgery of choice for definitive management of familial adenomatous polyposis (FAP) and some patients with ulcerative colitis (UC). However, this surgical treatment is often associated with pouchitis, a long-term complication that occurs mostly in UC patients. The purpose of this study was to better define the molecular background of pouchitis. A microarray-based survey was performed using pouch mucosal samples collected from 28 and 8 patients undergoing surgery for UC and FAP, respectively. There were 4,770 genes that significantly differentiated uninflamed from inflamed mucosal samples, and their functional features were represented mostly by metabolic and cell proliferation pathways. In contrast, functional analyses of aberrantly expressed genes between UC and FAP samples, irrespective of mucosal inflammation status, revealed multiple pathways and terms that were linked to changes in immune response. Interestingly, the comparison of uninflamed UC and FAP samples identified a set of 29 altered probe sets, including an inflammation-related transcript encoding a Charcot-Leyden crystal (CLC) protein. The most distinct changes in gene expression profiles differentiating uninflamed UC and FAP pouch mucosal samples were attributed to the Gene Ontology category innate immune response. Our study confirmed that alterations in immune responses can be found between patients who underwent surgery for UC and FAP, independent of the pouch inflammation status. This observation may be important when managing IPAA patients.

  11. The establishment of a polyposis register

    DEFF Research Database (Denmark)

    Bülow, Steffen; Burn, J; Neale, K

    1993-01-01

    Guidelines are presented for the establishment of a regional or national register of patients with familial adenomatous polyposis. The detailed recommendations are based on the work in committees of the "Leeds Castle Polyposis Group" and the "EuroFAP". The aims of national and regional polyposis...

  12. Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours.

    Science.gov (United States)

    Kohler, Eva Maria; Derungs, Adrian; Daum, Gabriele; Behrens, Jürgen; Schneikert, Jean

    2008-07-01

    The mutation cluster region (MCR) of adenomatous polyposis coli (APC) is located within the central part of the open reading frame, overlapping with the region encoding the 20 amino acid repeats (20R) that are beta-catenin-binding sites. Each mutation in the MCR leads to the synthesis of a truncated APC product expressed in a colorectal tumour. The MCR extends from the 3' border of the first 20R coding region to approximately the middle of the third 20R coding region, reflecting both positive and negative selections of the N- and C-terminal halves of the APC protein in colon cancer cells, respectively. In contrast, the second 20R escapes selection and can be either included or excluded from the truncated APC products found in colon cancer cells. To specify the functional outcome of the selection of the mutations, we investigated the beta-catenin binding capacity of the first three 20R in N-terminal APC fragments. We found in co-immunoprecipitation and intracellular co-localization experiments that the second 20R is lacking any beta-catenin binding activity. Similarly, we also show that the tumour-associated truncations abolish the interaction of beta-catenin with the third 20R. Thus, our data provide a functional definition of the MCR: the APC fragments typical of colon cancer are selected for the presence of a single functional 20R, the first one, and are therefore equivalent relative to beta-catenin binding.

  13. Adenomatous polyposis coli heterozygous knockout mice display hypoactivity and age-dependent working memory deficits

    Directory of Open Access Journals (Sweden)

    Hisatsugu eKoshimizu

    2011-12-01

    Full Text Available A tumor suppressor gene, Adenomatous polyposis coli (Apc, is expressed in the nervous system from embryonic to adulthood stage, and transmits the Wnt signaling pathway in which schizophrenia susceptibility genes, including T-cell factor 4 (TCF4 and calcineurin (CN, are involved. However, the functions of Apc in the nervous system are largely unknown. In this study, as the first evaluation of Apc function in the nervous system, we have investigated the behavioral significance of the Apc gene, applying a battery of behavioral tests to Apc heterozygous knockout (Apc+/− mice. Apc+/− mice showed no significant impairment in neurological reflexes or sensory and motor abilities. In various tests, including light/dark transition, open-field, social interaction, eight-arm radial maze, and fear conditioning tests, Apc+/− mice exhibited hypoactivity. In the eight-arm radial maze, Apc+/− mice 7 to 11 weeks of age displayed almost normal performance, whereas those 11 to 14 weeks of age showed a severe performance deficit in working memory, suggesting that Apc is involved in working memory performance in an age-dependent manner. The possibility that anemia, which Apc+/− mice develop by 17 weeks of age, impairs working memory performance, however, cannot be excluded. Our results suggest that Apc plays a role in the regulation of locomotor activity and presumably working memory performance.

  14. Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.

    Science.gov (United States)

    González, Sara; Blanco, Ignacio; Campos, Olga; Julià, María; Reyes, José; Llompart, Alfred; Cabeza, Elena; Germà, Josep Ramon; Obrador, Antoni; Capellá, Gabriel

    2005-04-01

    The incidence of familial adenomatous polyposis (FAP) is approximately 7.4 per 100,000 inhabitants. APC gene mutations have been found in 60-70% of all FAP families, codons 1309 (20%) and 1061 (8%) being known hot-spots. We searched for mutations in the APC gene in a population-based registry of FAP from the Spanish Balearic Islands. Fifty-one members of 12 FAP families registered in the Balearic Islands Cancer Registry were studied; three of them were de novo cases. Mutations in the APC gene were analyzed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and sequencing. Haplotype was established by combining intra- and extragenic markers. Mutations in the APC gene were detected in 10 out of 12 (83%) families analyzed. Six families shared the same mutation, a 5-bp deletion at codon 1061 (c.3221_3225delACAAA). Five of the families containing this mutation shared the same haplotype and originated in the same geographic area. The codon 1061 mutation in the APC gene is the most common one in the Balearic Islands. Although this codon is a hot-spot, the haplotype analysis of these families is consistent for the presence of a founder effect of the 5-bp deletion at codon 1061 in FAP families in the Spanish Balearic Islands.

  15. The Adenomatous Polyposis Coli Protein Contributes to Normal Compaction of Mitotic Chromatin

    Science.gov (United States)

    Dikovskaya, Dina; Khoudoli, Guennadi; Newton, Ian P.; Chadha, Gaganmeet S.; Klotz, Daniel; Visvanathan, Ashwat; Lamond, Angus; Swedlow, Jason R.; Näthke, Inke S.

    2012-01-01

    The tumour suppressor Adenomatous Polyposis Coli (APC) is required for proper mitosis; however, the exact role of APC in mitosis is not understood. Using demembranated sperm chromatin exposed to meiotic Xenopus egg extract and HeLa cells expressing fluorescently labelled histones, we established that APC contributes to chromatin compaction. Sperm chromatin in APC-depleted Xenopus egg extract frequently formed tight round or elongated structures. Such abnormally compacted chromatin predominantly formed spindles with low microtubule content. Furthermore, in mitotic HeLa cells expressing GFP- and mCherry-labelled H2B histones, depletion of APC caused a decrease in the donor fluorescence lifetime of neighbouring fluorophores, indicative of excessive chromatin compaction. Profiling the chromatin-associated proteome of sperm chromatin incubated with Xenopus egg extracts revealed temporal APC-dependent changes in the abundance of histones, closely mirrored by chromatin-associated Topoisomerase IIa, condensin I complex and Kif4. In the absence of APC these factors initially accumulated on chromatin, but then decreased faster than in controls. We also found and validated significant APC-dependent changes in chromatin modifiers Set-a and Rbbp7. Both were decreased on chromatin in APC-depleted extract; in addition, the kinetics of association of Set-a with chromatin was altered in the absence of APC. PMID:22719865

  16. Dietary Putrescine Reduces the Anticarcinogenic Intestinal Activity of Sulindac in a Murine Model of Familial Adenomatous Polyposis

    Science.gov (United States)

    Ignatenko, Natalia A.; Besselsen, David G.; Basu Roy, Upal K.; Stringer, David E.; Blohm-Mangone, Karen A.; Padilla-Torres, Jose L.; Guillen-R, Jose M.; Gerner, Eugene W.

    2013-01-01

    The nonsteroidal antiinflammatory drug sulindac displays chemopreventive activity in patients with familial adenomatous polyposis (FAP). Sulindac metabolites induce apoptosis in colon tumor cells, in part, by a polyamine-dependent mechanism that can be suppressed with exogenous putrescine. To determine the relevance of this mechanism in animals, we treated ApcMin/+ mice, a model of human FAP, with sulindac alone or in combination with dietary putrescine. Sulindac increased steady-state RNA levels and enzymatic activity of the polyamine catabolic enzyme spermidine/spermine N1-acetyltransferase and intestinal levels of monoacetylspermidine, spermidine, and spermine in the small intestine of mice. Sulindac also decreased the activity of the biosynthetic enzyme ornithine decarboxylase but not adenosylmethionine decarboxylase (AMD). Dietary putrescine increased intestinal putrescine contents, whereas the combination of dietary putrescine and sulindac yielded the highest levels of intestinal putrescine and correlated with a statistically significant reduction in AMD enzyme activity. Dietary putrescine did not statistically significantly increase tumorigenesis, although it significantly increased the grade of adenoma dysplasia (P putrescine. These data suggest that sulindac exerts at least some of its anticarcinogenic effects in mice via a polyamine-dependent mechanism. Because high concentrations of putrescine can be found in certain dietary components, it may be advantageous to restrict dietary putrescine consumption in patients undergoing treatment with sulindac. PMID:17474863

  17. Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

    Energy Technology Data Exchange (ETDEWEB)

    Stella, A.; Resta, N.; Susca, F.; Guanti, G.; Gentile, M. (Universita di Bari (Italy)); Mareni, C.; Montera, P. (Universita di Genova (Italy))

    1993-11-01

    Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. The authors studied two families that both presented a phenotype different from that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described. 30 refs., 1 fig., 1 tab.

  18. N-terminal truncation mutations of adenomatous polyposis coli are associated with primary cilia defects.

    Science.gov (United States)

    Song, Li; Jia, Yuxin; Zhu, Wensi; Newton, Ian P; Li, Zhuoyu; Li, Wenling

    2014-10-01

    Adenomatous polyposis coli (APC) gene is a tumor suppressor gene and its truncated mutations cause a few cilia-related diseases such as Gardner's syndrome. However, little is known about the mechanism that links APC mutations and cilia disorder. APC mutations lead to the expression of N-terminal fragments, which have dominant effects in tumors owing to loss of the C-terminal region or a gain of function. The present study investigated the impact of tumor-associated N-terminal APC fragments on primary cilia assembly and the possible molecular mechanism involved. We discovered that expression of tumor-associated N-terminal APC fragments (APC-N, APC-N1, APC-N2, and APC-N3, which contain amino acids 1-1018, 1-448, 449-781, and 782-1018 respectively), resulted in primary cilia defects. We found that a β-catenin/PI3K/AKT/GSK-3β feedback signal cascade is responsible for causing N-terminal APC fragment-induced cilia defects. In this cascade, dysfunctions of both β-catenin and GSK-3β were involved in the up-regulation of HDAC6 and subsequent decreased acetylated tubulin levels, which thereby led to cilia defects. These data suggest a mechanism for linking N-terminal APC fragments and cilia loss, thus accelerating our understanding of human cilia-related diseases such as Gardner's syndrome and their cause due to APC mutations. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. NOD2 Genetic Variants Predispose One of Two Familial Adenomatous Polyposis Siblings to Pouchitis Through Microbiome Dysbiosis.

    Science.gov (United States)

    Schieffer, Kathleen M; Wright, Justin R; Harris, Leonard R; Deiling, Sue; Yang, Zhaohai; Lamendella, Regina; Yochum, Gregory S; Koltun, Walter A

    2017-10-27

    Individuals with familial adenomatous polyposis (FAP) may undergo a total proctocolectomy with ileal pouch-anal anastomosis (IPAA) to surgically treat their disease. Inflammation of the ileal pouch, termed pouchitis, is uncommon in FAP patients but prevalent in patients who received IPAA for ulcerative colitis, a type of inflammatory bowel disease (IBD). We report on two FAP siblings, living in the same household, who underwent IPAA surgery within one week of each other. Their mother also had an IPAA for FAP. One sibling developed pouchitis while his brother and mother have remained pouchitis-free. We investigated the genetic and microbial factors that might explain the development of pouchitis in the one sibling. We surveyed DNA isolated from the two brothers and their parents for NOD2 IBD risk variants by Sanger sequencing. The composition of mucosa-associated bacteria was analyzed by 16S rRNA gene sequencing on terminal ileum and rectal tissue collected at the time of surgical resection from the two brothers. The sibling with pouchitis inherited the IBD-associated risk alleles for NOD2 (rs17221417 and rs2076756) from his healthy father. Both the mother and unaffected brother lacked these variants. Microbiome sequencing of the terminal ileum and rectum found reduced levels of potentially 'beneficial' bacteria (Faecalibacterium prausnitzii, Bacteroides, and Ruminococcaceae) in the sibling with pouchitis relative to his brother. These findings suggest that the NOD2 signaling pathway may contribute to intrinsic bacterial dysbiosis which is pre-existing and which may then predispose individuals to pouchitis after IPAA surgery.

  20. Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

    Science.gov (United States)

    Li, Jun; Woods, Susan L.; Healey, Sue; Beesley, Jonathan; Chen, Xiaoqing; Lee, Jason S.; Sivakumaran, Haran; Wayte, Nicci; Nones, Katia; Waterfall, Joshua J.; Pearson, John; Patch, Anne-Marie; Senz, Janine; Ferreira, Manuel A.; Kaurah, Pardeep; Mackenzie, Robertson; Heravi-Moussavi, Alireza; Hansford, Samantha; Lannagan, Tamsin R.M.; Spurdle, Amanda B.; Simpson, Peter T.; da Silva, Leonard; Lakhani, Sunil R.; Clouston, Andrew D.; Bettington, Mark; Grimpen, Florian; Busuttil, Rita A.; Di Costanzo, Natasha; Boussioutas, Alex; Jeanjean, Marie; Chong, George; Fabre, Aurélie; Olschwang, Sylviane; Faulkner, Geoffrey J.; Bellos, Evangelos; Coin, Lachlan; Rioux, Kevin; Bathe, Oliver F.; Wen, Xiaogang; Martin, Hilary C.; Neklason, Deborah W.; Davis, Sean R.; Walker, Robert L.; Calzone, Kathleen A.; Avital, Itzhak; Heller, Theo; Koh, Christopher; Pineda, Marbin; Rudloff, Udo; Quezado, Martha; Pichurin, Pavel N.; Hulick, Peter J.; Weissman, Scott M.; Newlin, Anna; Rubinstein, Wendy S.; Sampson, Jone E.; Hamman, Kelly; Goldgar, David; Poplawski, Nicola; Phillips, Kerry; Schofield, Lyn; Armstrong, Jacqueline; Kiraly-Borri, Cathy; Suthers, Graeme K.; Huntsman, David G.; Foulkes, William D.; Carneiro, Fatima; Lindor, Noralane M.; Edwards, Stacey L.; French, Juliet D.; Waddell, Nicola; Meltzer, Paul S.; Worthley, Daniel L.; Schrader, Kasmintan A.; Chenevix-Trench, Georgia

    2016-01-01

    Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families. The mutations reduced binding of the YY1 transcription factor and impaired activity of the APC promoter 1B in luciferase assays. Analysis of blood and saliva from carriers showed allelic imbalance of APC, suggesting that these mutations lead to decreased allele-specific expression in vivo. Similar mutations in APC promoter 1B occur in rare families with familial adenomatous polyposis (FAP). Promoter 1A is methylated in GAPPS and sporadic FGPs and in normal stomach, which suggests that 1B transcripts are more important than 1A in gastric mucosa. This might explain why all known GAPPS-affected families carry promoter 1B point mutations but only rare FAP-affected families carry similar mutations, the colonic cells usually being protected by the expression of the 1A isoform. Gastric polyposis and cancer have been previously described in some FAP-affected individuals with large deletions around promoter 1B. Our finding that GAPPS is caused by point mutations in the same promoter suggests that families with mutations affecting the promoter 1B are at risk of gastric adenocarcinoma, regardless of whether or not colorectal polyps are present. PMID:27087319

  1. Colonic polyps and polyposis syndromes in pediatric patients.

    Science.gov (United States)

    Kay, Marsha; Eng, Katharine; Wyllie, Robert

    2015-10-01

    Gastrointestinal polyps are commonly encountered during childhood and are one of the most common causes of rectal bleeding in this age group. Most polyps are benign and located in the colon, with the most frequent type being juvenile polyps. However, in older pediatric patients, if multiple polyps are present, in patients who have a positive family history, or if polyps are located outside of the colon, either adenomatous polyps or polyps associated with genetic abnormalities are more common. Imaging techniques such as ultrasound and computed tomographic colonoscopy have recently been utilized to identify simple juvenile colonic polyps in children with rectal bleeding in whom there is a high index of suspicion. Colonoscopy with polypectomy is still required for histologic evaluation and resection of the polyp. There have been significant advances in genetic testing and management of hereditary gastrointestinal cancer syndromes with onset in childhood or adolescence that may ultimately reduce long-term morbidity and mortality. In addition to enhanced gastrointestinal and extraintestinal malignancy screening for affected individuals, specific gene mutations within a given condition such as adenomatous polyposis coli may predict clinical course and timing of specific interventions such as colectomy. In other conditions such as phosphatase and tensin homolog hamartoma tumor syndrome, phenotype may not be predicted by genotype. Pediatricians, pediatric gastroenterologists, and adult gastroenterologists caring for children should understand how to differentiate benign polyps in the pediatric age group from those associated with a higher risk of complications including recurrence risk and risk of development of intestinal or extraintestinal malignancy. Recent advances in genetic testing, as well as development of consensus guidelines, are key in the identification, screening, and follow-up of children and adolescents with polyposis syndromes.

  2. Enhanced suicidal erythrocyte death in mice carrying a loss-of-function mutation of the adenomatous polyposis coli gene

    Science.gov (United States)

    Qadri, Syed M; Mahmud, Hasan; Lang, Elisabeth; Gu, Shuchen; Bobbala, Diwakar; Zelenak, Christine; Jilani, Kashif; Siegfried, Alexandra; Föller, Michael; Lang, Florian

    2012-01-01

    Abstract Loss-of-function mutations in human adenomatous polyposis coli (APC) lead to multiple colonic adenomatous polyps eventually resulting in colonic carcinoma. Similarly, heterozygous mice carrying defective APC (apcMin/+) suffer from intestinal tumours. The animals further suffer from anaemia, which in theory could result from accelerated eryptosis, a suicidal erythrocyte death triggered by enhanced cytosolic Ca2+ activity and characterized by cell membrane scrambling and cell shrinkage. To explore, whether APC-deficiency enhances eryptosis, we estimated cell membrane scrambling from annexin V binding, cell size from forward scatter and cytosolic ATP utilizing luciferin–luciferase in isolated erythrocytes from apcMin/+ mice and wild-type mice (apc+/+). Clearance of circulating erythrocytes was estimated by carboxyfluorescein-diacetate-succinimidyl-ester labelling. As a result, apcMin/+ mice were anaemic despite reticulocytosis. Cytosolic ATP was significantly lower and annexin V binding significantly higher in apcMin/+ erythrocytes than in apc+/+ erythrocytes. Glucose depletion enhanced annexin V binding, an effect significantly more pronounced in apcMin/+ erythrocytes than in apc+/+ erythrocytes. Extracellular Ca2+ removal or inhibition of Ca2+ entry with amiloride (1 mM) blunted the increase but did not abrogate the genotype differences of annexin V binding following glucose depletion. Stimulation of Ca2+-entry by treatment with Ca2+-ionophore ionomycin (10 μM) increased annexin V binding, an effect again significantly more pronounced in apcMin/+ erythrocytes than in apc+/+ erythrocytes. Following retrieval and injection into the circulation of the same mice, apcMin/+ erythrocytes were more rapidly cleared from circulating blood than apc+/+ erythrocytes. Most labelled erythrocytes were trapped in the spleen, which was significantly enlarged in apcMin/+ mice. The observations point to accelerated eryptosis and subsequent clearance of apcMin/+ erythrocytes

  3. Familial Adenomatous Polyposis Manifesting as Lactococcus Endocarditis: A Case Report and Review of the Association of Lactococcus with Underlying Gastrointestinal Disease

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    Taylor C. Bazemore

    2016-01-01

    Full Text Available A 45-year-old male with a prosthetic aortic valve presented to the hospital with several months of generalized malaise. On admission, he was noted to have anemia of unclear etiology and subsequently became febrile with multiple blood cultures growing Lactococcus garvieae. Inpatient workup was concerning for infectious endocarditis (IE secondary to Lactococcus. The patient was discharged home with appropriate antimicrobial therapy; however, he was readmitted for persistent, symptomatic anemia and underwent colonoscopy, which revealed innumerable colonic polyps consistent with Familial Adenomatous Polyposis (FAP that was later confirmed with genetic testing. Surveillance computed tomography (CT imaging of the aortic repair later demonstrated valve dehiscence with surrounding fluid collection; he underwent redo surgery and was found to have destruction of the aortic annulus and a large pseudoaneurysm. Histopathology of the valve prosthesis confirmed IE. It is suspected that the patient developed Lactococcus IE from enteric translocation. Review of the literature provides several reports of Lactococcus infections in association with underlying gastrointestinal disease, including colorectal cancer. Given this association, we raise the question of whether the diagnosis of Lactococcus IE should evoke suspicion and encourage evaluation for gastrointestinal pathology, as occurs with Streptococcus bovis.

  4. Adenomatous polyposis coli is required for early events in the normal growth and differentiation of the developing cerebral cortex

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    Price David J

    2009-01-01

    Full Text Available Abstract Background Adenomatous polyposis coli (Apc is a large multifunctional protein known to be important for Wnt/β-catenin signalling, cytoskeletal dynamics, and cell polarity. In the developing cerebral cortex, Apc is expressed in proliferating cells and its expression increases as cells migrate to the cortical plate. We examined the consequences of loss of Apc function for the early development of the cerebral cortex. Results We used Emx1Cre to inactivate Apc specifically in proliferating cerebral cortical cells and their descendents starting from embryonic day 9.5. We observed reduction in the size of the mutant cerebral cortex, disruption to its organisation, and changes in the molecular identity of its cells. Loss of Apc leads to a decrease in the size of the proliferative pool, disrupted interkinetic nuclear migration, and increased apoptosis. β-Catenin, pericentrin, and N-cadherin proteins no longer adopt their normal high concentration at the apical surface of the cerebral cortical ventricular zone, indicating that cell polarity is disrupted. Consistent with enhanced Wnt/β-catenin signalling resulting from loss of Apc we found increased levels of TCF/LEF-dependent transcription and expression of endogenous Wnt/β-catenin target genes (Axin2 (conductin, Lef1, and c-myc in the mutant cerebral cortex. In the Apc mutant cerebral cortex the expression of transcription factors Foxg1, Pax6, Tbr1, and Tbr2 is drastically reduced compared to normal and many cells ectopically express Pax3, Wnt1, and Wt1 (but not Wnt2b, Wnt8b, Ptc, Gli1, Mash1, Olig2, or Islet1. This indicates that loss of Apc function causes cerebral cortical cells to lose their normal identity and redirect to fates normally found in more posterior-dorsal regions of the central nervous system. Conclusion Apc is required for multiple aspects of early cerebral cortical development, including the regulation of cell number, interkinetic nuclear migration, cell polarity, and

  5. Celecoxib and tauro-ursodeoxycholic acid co-treatment inhibits cell growth in familial adenomatous polyposis derived LT97 colon adenoma cells

    Energy Technology Data Exchange (ETDEWEB)

    Heumen, Bjorn W.H. van, E-mail: b.vanheumen@mdl.umcn.nl [Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Roelofs, Hennie M.J.; Morsche, Rene H.M. te [Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Marian, Brigitte [Institute of Cancer Research, Wien University, Vienna (Austria); Nagengast, Fokko M.; Peters, Wilbert H.M. [Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands)

    2012-04-15

    Chemoprevention would be a desirable strategy to avoid duodenectomy in patients with familial adenomatous polyposis (FAP) suffering from duodenal adenomatosis. We investigated the in vitro effects on cell proliferation, apoptosis, and COX-2 expression of the potential chemopreventives celecoxib and tauro-ursodeoxycholic acid (UDCA). HT-29 colon cancer cells and LT97 colorectal micro-adenoma cells derived from a patient with FAP, were exposed to low dose celecoxib and UDCA alone or in combination with tauro-cholic acid (CA) and tauro-chenodeoxycholic acid (CDCA), mimicking bile of FAP patients treated with UDCA. In HT-29 cells, co-treatment with low dose celecoxib and UDCA resulted in a decreased cell growth (14-17%, p < 0.01). A more pronounced decrease (23-27%, p < 0.01) was observed in LT97 cells. Cell growth of HT-29 cells exposed to 'artificial bile' enriched with UDCA, was decreased (p < 0.001), either in the absence or presence of celecoxib. In LT97 cells incubated with 'artificial bile' enriched with UDCA, cell growth was decreased only in the presence of celecoxib (p < 0.05). No clear evidence was found for involvement of proliferating cell nuclear antigen, caspase-3, or COX-2 in the cellular processes leading to the observed changes in cell growth. In conclusion, co-treatment with low dose celecoxib and UDCA has growth inhibitory effects on colorectal adenoma cells derived from a patient with FAP, and further research on this combination as promising chemopreventive strategy is desired. -- Highlights: Black-Right-Pointing-Pointer Celecoxib and UDCA acid co-treatment decreases cell growth in colon tumor cells. Black-Right-Pointing-Pointer UDCA enriched 'artificial bile' decreases LT-97 cell growth only in presence of celecoxib. Black-Right-Pointing-Pointer PCNA, caspase-3, nor COX-2 seem to be involved in the observed changes in cell growth.

  6. Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

    DEFF Research Database (Denmark)

    Nilbert, Mef; Kristoffersson, Ulf; Ericsson, Mats

    2008-01-01

    of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC) both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA) developed colon...... that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer....... cancer at age 72 as the first manifestation of attenuated FAP. Conclusion With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases...

  7. WNT Inhibitory Activity of Malus Pumila miller cv Annurca and Malus domestica cv Limoncella Apple Extracts on Human Colon-Rectal Cells Carrying Familial Adenomatous Polyposis Mutations

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    Gennaro Riccio

    2017-11-01

    Full Text Available Inhibitors of the Wingless-related Integration site (WNT/β-catenin pathway have recently been under consideration as potential chemopreventive agents against Familial Adenomatous Polyposis (FAP. This autosomal-dominant syndrome is caused by germline mutations in the gene coding for the protein APC and leads to hyperactivation of the WNT/β-catenin signaling pathway, uncontrolled intestinal cell proliferation and formation of adenocarcinomas. The aim of the present work was to: (i test, on in vitro cultures of cells carrying FAP mutations and on ex vivo biopsies of FAP patients, the WNT inhibitory activity of extracts from two common southern Italian apples, Malus pumila Miller cv. ‘Annurca’ and Malus domestica cv ‘Limoncella’; (ii identify the mechanisms underpinning their activities and; (iii evaluate their potency upon gastrointestinal digestion. We here show that both Annurca and Limoncella apple extracts act as WNT inhibitors, mostly thanks to their polyphenolic contents. They inhibit the pathway in colon cells carrying FAP mutations with active dilutions falling in ranges close to consumer-relevant concentrations. Food-grade manufacturing of apple extracts increases their WNT inhibitory activity as result of the conversion of quercetin glycosides into the aglycone quercetin, a potent WNT inhibitor absent in the fresh fruit extract. However, in vitro simulated gastrointestinal digestion severely affected WNT inhibitory activity of apple extracts, as result of a loss of polyphenols. In conclusion, our results show that apple extracts inhibit the WNT pathway in colon cells carrying FAP mutations and represent a potential nutraceutical alternative for the treatment of this pathology. Enteric coating is advisable to preserve the activity of the extracts in the colon-rectal section of the digestive tract.

  8. Seguimiento posquirúrgico de los pacientes con poliposis adenomatosa familiar: resultados en una población del sur de España Follow-up after surgical treatment of patients whit familial adenomatous polyposis: Results in Southern Spanish population

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    C. Cordero Fernández

    2007-08-01

    Full Text Available Objetivo: analizar la evolución de la mucosa rectal y del reservorio así como idoneidad de los intervalos de seguimiento y del tratamiento realizado para evitar la aparición del cáncer, en una serie de pacientes con poliposis adenomatosa familiar (PAF, intervenidos. Método: estudio prospectivo de 28 pacientes con PAF intervenidos mediante anastomosis íleo-rectal (20 pacientes y anastomosis íleo-anal con reservorio (8 pacientes. A todos se les había realizado un control endoscópico dos veces al año y análisis del número y características macroscópicas e histológicas de los pólipos antes y después de la cirugía así como del tratamiento realizado, de sus complicaciones y de la adecuación del intervalo de seguimiento. El seguimiento medio fue de 6,47 años (DE = 4,59; rango = 0,72-16,75 años. Resultados: ninguno de los 26 pacientes que cumplimentaron correctamente el protocolo de seguimiento desarrolló cáncer. Sólo dos pacientes lo desarrollaron al 1,75 y los 3 años, respectivamente del abandono del protocolo. Los pacientes que desarrollaron adenomas durante el seguimiento fueron tratados con éxito mediante polipectomía endoscópica, salvo en dos casos que se indicó cirugía. Conclusiones: en nuestra serie, el incumplimiento de las revisiones ha sido el factor que ha condicionado la aparición de cáncer.Objective: the study was to assess changes in the rectal mucosa and pouch in a series of patients with familial adenomatous polyposis (FAP who underwent either subtotal colectomy and ileorectal anastomosis (IRA or proctocolectomy and ileal pouch-anal anastomosis (IPAA, and to evaluate the suitability of the follow-up interval and postoperative treatment employed to prevent the development of cancer. Method: this study involved 28 patients with FAP who underwent IRA (n=20 or IPAA (n=8, and were followed endoscopically over a mean period of 7.47 years. The number and both macroscopic and histological features of polyps

  9. The outcome of familial adenomatous polyposis in the absence of a ...

    African Journals Online (AJOL)

    Department of Pathology and the records of surgeons with an interest in the disease. All the patients managed at this hospital were included in the study. ..... anastomosis involves a colectomy and the construction of an ileo-anal pouch. Only 4 (6%) of our patients had this done and 2 of these now have a permanent stoma.

  10. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen; Christensen, Ib Jarle; Højen, Helle

    2012-01-01

    of cancer development. Method: Follow-up of patients in a previous study with gastroduodenoscopy in 1990-2010. Statistical analysis included chi(2) test, actuarial method and Kaplan-Meier analysis. Results: Among 304 patients, 261 (86%) had more than one endoscopy. The median follow-up was 14 years......Background and aim: Duodenal adenomatosis in FAP results in a cancer risk that increases with age. Endoscopic surveillance has been recommended, but the effect has not yet been documented. The aim of this study is to present results of long-term duodenal surveillance and to evaluate the risk...

  11. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen; Christensen, Ib Jarle; Højen, Helle

    2012-01-01

    of cancer development. Method:  Follow-up of patients in a previous study with gastroduodenoscopy in 1990-2010. Statistical analysis included chi(2) test, actuarial method and Kaplan-Meier analysis. Results:  Among 304 patients, 261 (86%) had more than one endoscopy. The median follow-up was 14 years......Background and aim:  Duodenal adenomatosis in FAP results in a cancer risk that increases with age. Endoscopic surveillance has been recommended, but the effect has not yet been documented. The aim of this study is to present results of long-term duodenal surveillance and to evaluate the risk...

  12. A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth.

    Science.gov (United States)

    Yu, Fang; Cai, Wenping; Jiang, Beizhan; Xu, Laijun; Liu, Shangfeng; Zhao, Shouliang

    2017-08-07

    Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth-related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome. Haematoxylin and eosin staining of supernumerary teeth and colonic polyp lesion biopsies revealed that these patients exhibited significant pathological characteristics. APC gene mutations were detected by PCR and direct sequencing. We revealed the pathological pathway involved in human supernumerary tooth development and the mouse tooth germ development expression profile by RNA sequencing (RNA-seq). Sequencing analysis revealed that an APC gene mutation in exon 15, namely 4292-4293-Del GA, caused Gardner syndrome in this family. This mutation not only initiated the various manifestations typical of Gardner syndrome but also resulted in odontoma and supernumerary teeth in this case. Furthermore, RNA-seq analysis of human supernumerary teeth suggests that the APC gene is the key gene involved in the development of supernumerary teeth in humans. The mouse tooth germ development expression profile shows that the APC gene plays an important role in tooth germ development. We identified a new mutation in the APC gene that results in supernumerary teeth in association with Gardner syndrome. This information may shed light on the molecular pathogenesis of supernumerary teeth. Gene-based diagnosis and gene therapy for supernumerary teeth may become available in the future, and our study provides a high-resolution reference for treating other syndromes associated with supernumerary teeth. © 2017 The Authors. Journal of

  13. Familial Adenomatous Polyposis

    Science.gov (United States)

    ... With a Genetic Counselor Collecting Your Family Cancer History Sharing Genetic Test Results with Your Family Additional Resources Colon Cancer Alliance www.ccalliance.org Fight Colorectal Cancer http:// ...

  14. Attenuated Familial Adenomatous Polyposis

    Science.gov (United States)

    ... members, should talk with a genetic counselor or medical genetics specialist. A genetic counselor is a health professional with specialized training in medical genetics. How is AFAP inherited? Normally, every cell has ...

  15. Conversion Therapy Using mFOLFOX6 With Panitumumab for Unresectable Liver Metastases From Multiple Colorectal Cancers With Familial Adenomatous Polyposis.

    Science.gov (United States)

    Toiyama, Yuji; Inoue, Yasuhiro; Kitajima, Takahito; Okigami, Masato; Kawamura, Mikio; Kawamoto, Aya; Okugawa, Yoshinaga; Hiro, Jyunichiro; Tanaka, Koji; Mohri, Yasuhiko; Kusunoki, Masato

    2014-01-01

    A 39-year-old man received a diagnosis of unresectable multiple liver metastases from multiple colorectal cancers with familial adenomatous polyposis. After construction of an ileostomy, modified FOLFOX6 (mFOLFOX6) with panitumumab was administrated because rectal cancer and sigmoid colon cancer are KRAS wild type. The 13 courses of chemotherapy resulted in a marked reduction in the size of liver metastases and sigmoid colon cancer. Consequently, curative resection with total colectomy, ileal pouch anal anastomosis, and liver metastasis resection with radiofrequency ablation was performed. Progression of KRAS wild-type rectal cancer after chemotherapy suggested that each clone from rectal and sigmoid colon cancer might have a different sensitivity to epidermal growth factor receptor antibody. Immunohistochemical analysis revealed loss of PTEN expression in rectal cancer compared with liver metastases from sigmoid colon cancer, showing that the difference of mFOLFOX6 with panitumumab might be related to activation of the PI3K-AKT pathway.

  16. Multiple pilomatrixomas in a survivor of WNT-activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis.

    Science.gov (United States)

    Bendelsmith, Charles R; Skrypek, Mary M; Patel, Sachin R; Pond, Dinel A; Linabery, Amy M; Bendel, Anne E

    2018-01-01

    Because children diagnosed with WNT-activated medulloblastoma have a 10-year overall survival rate of 95%, active long-term follow-up is critically important in reducing mortality from other causes. Here, we describe an 11-year-old adopted female who developed multiple pilomatrixomas 3 years after diagnosis of WNT-activated medulloblastoma, an unusual finding that prompted deeper clinical investigation. A heterozygous germline APC gene mutation was discovered, consistent with familial adenomatous polyposis. Screening endoscopy revealed numerous precancerous polyps that were excised. This case highlights the importance of long-term follow-up of pediatric cancer survivors, including attention to unexpected symptoms, which might unveil an underlying cancer predisposition syndrome. © 2017 Wiley Periodicals, Inc.

  17. Implication of MYH in Colorectal Polyposis

    Science.gov (United States)

    Lefevre, Jérémie H.; Rodrigue, Christelle M.; Mourra, Najat; Bennis, Malika; Flejou, Jean-François; Parc, Rolland; Tiret, Emmanuel; Gespach, Christian; Parc, Yann R.

    2006-01-01

    Objective: The aim of this study was to determine the frequency of MYH mutations in one large population of polyposis patients without APC mutation identified. Summary Background Data: Familial adenomatous polyposis (FAP) is the most known inherited colorectal cancer syndrome. In 70% to 80% of polyposis patients, an APC mutation is found. Patients with polyposis but no APC mutation are considered as APC-muted patients and followed as their relatives accordingly. Biallelic mutation of MYH has been found to responsible of colorectal polyposis and cancer in an autosomal recessive pattern of inheritance. Methods: Between 1978 and 2004, 433 patients were operated for polyposis. A mutation on APC was identified in 322 patients. Among the remaining patients, 44 were identified as possible MYH-muted patients and contacted, and 31 signed informed consent. Clinical data were obtained from the patients’ medical notes. Germline mutation of MYH was searched by sequencing the whole gene. To confirm the deleterious effects of biallelic MYH mutation, transversions on K-ras and APC were searched. Results: There were 9 women and 22 men with a mean age of 53.9 years (range, 22–68 years) at the time of diagnosis. The mean number of polyps was 62.8 (range, 11–266). Eighteen patients (58.1%) had a colorectal cancer. We found biallelic MYH mutation in 6 patients (19.3%; 95% confidence interval, 5.2%–33.5%) and 5 (83.3%) had transversions in K-ras and/or APC. Conclusion: MYH is a new gene responsible for about 1.4% of all adenomatous polyposis and about 20% of adenomatous polyposis without APC mutation identified. Search for MYH biallelic mutation in these patients should be systematic as it changes their and relatives'surveillance. PMID:17122612

  18. Clinical characteristics of patients with serrated polyposis syndrome in Korea: comparison with Western patients.

    Science.gov (United States)

    Kim, Eun Ran; Jeon, Jaryong; Lee, Jin Hee; Lee, Yoon Jung; Hong, Sung Noh; Chang, Dong Kyung; Kim, Young-Ho

    2017-07-01

    Serrated polyposis syndrome (SPS) has been shown to increase the risk of colorectal cancer (CRC). However, little is known about the characteristics of Asian patients with SPS. This study aimed to identify the clinicopathological features and risk of CRC in Korean patients with SPS as well as the differences between Korean and Western patients based on a literature review. This retrospective study included 30 patients with SPS as defined by World Health Organization classification treated at Samsung Medical Center, Korea, between March 1999 and May 2011. Twenty patients (67%) were male. The median patient age at diagnosis was 56 years (range, 39-76 years). A total of 702 polyps were identified during a median follow-up of 43 months (range, 0-149 months). Serrated polyps were noted more frequently in the distal colon (298/702, 55%). However, large serrated polyps and serrated adenomas were mainly distributed throughout the proximal colon (75% vs. 25% and 81% vs. 19%, respectively); 73.3% had synchronous adenomatous polyps. The incidence of CRC was 10% (3/30 patients), but no interval CRC was detected. A total of 87% of the patients underwent esophagogastroduodenoscopy and 19.2% had significant lesions. The phenotype of SPS in Korean patients is different from that of Western patients. In Korean patients, SPS is more common in men, there were fewer total numbers of serrated adenoma/polyps, and the incidence of CRC was lower than that in Western patients. Korean patients tend to more frequently have abnormal gastric lesions. However, the prevalence of synchronous adenomatous polyps is high in both Western and Korean patients.

  19. Clinical and ethical implications of genetic counselling in familial adenomatous polyposis Implicaciones clínicas y éticas del consejo genético en la poliposis adenomatosa familiar

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    A. Fernández-Suárez

    2005-09-01

    Full Text Available The association of specific genetic disturbances with the development of hereditary cancer helps us to understand the risk of suffering from it, the possibility of an earlier diagnosis, and the treatment and prevention of this disease. Familial adenomatous polyposis (FAP is a pre-neoplastic syndrome characterized by the presence of hundreds of adenomatous polyps in the colon, which develop into a carcinoma. FAP can be diagnosed using sequencing techniques to detect mutations in the germinal line of the APC (adenomatous polyposis coli gene. The genetic diagnostic approach in families with FAP, previously followed up in the Gastrointestinal Clinic, has both advantages and disadvantages, and places us nearer the disease and patient. Disclosing the results of this genetic test entails relevant problems in clinical practice, which affect the health field and raise legal and ethical issues, along with the familial, occupational, and social implications that knowing the genetic status can have on the patient. Genetic analysis is rare in normal clinical practice, which involves errors in the interpretation of the results obtained, and during the process of genetic counselling. Specialized multidisciplinary units are necessary for the management of patients with FAP undergoing analysis and appropriate genetic counselling, thus providing an individualized service. The creation of FAP registers and protocols for this healthcare process should optimize the management of these patients and their families.La asociación de determinadas alteraciones genéticas con la aparición de cáncer hereditario, nos permite conocer el riesgo de padecerlo, posibilitando el diagnóstico precoz, el tratamiento y la prevención de la enfermedad. La poliposis adenomatosa familiar (PAF es un síndrome preneoplásico que se caracteriza por la presencia de cientos de pólipos adenomatosos en colon, que evolucionarán hacia carcinoma. La PAF puede ser diagnosticada mediante t

  20. Evaluación económica de la prueba genética de la poliposis adenomatosa familiar An economic assessment of genetic testing for familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    A. Olry de Labry Lima

    2008-08-01

    Full Text Available Objetivo: analizar el coste-utilidad de la prueba genética a familiares de primer grado de pacientes con cáncer de colon para determinar mutaciones del gen APC (Adenomatous Polyposis Coli. Metodología: los análisis se realizaron desde el punto de vista del sistema sanitario. Se utilizó un modelo de Markov. Realización de la prueba genética para el gen APC, causante de la poliposis adenomatosa familiar (PAF, que produce cáncer de colon frente a la no realización de la misma. La medida de efectividad utilizada fueron los años de vida ajustados por calidad (AVAC y la unidad de coste los euros de 2005. Los costes de las intervenciones fueron extraídos de los precios públicos de los servicios sanitarios prestados por centros dependientes del Sistema Sanitario Público Andaluz y los valores de la efectividad y de utilidad de la literatura. Resultados: la realización de la prueba genética se muestra como una estrategia dominante a la no realización de la misma, ya que esta última tiene un coste incremental de 7.676,34 €, además de una menor efectividad. Los análisis de sensibilidad mostraron que la realización de la prueba genética se mantiene como la estrategia dominante dentro de un amplio rango de coste de la prueba y de probabilidad de desarrollar adenocarcinomas. Conclusiones: los análisis mostraron que, para este grupo de pacientes, la realización de la prueba genética para la detección de la mutación del gen APC es en promedio menos costosa y además produce una mejora en AVAC comparado con la no realización de la misma.Objective: to analyze the cost-effectiveness of genetic testing for first-degree relatives of patients with colon cancer to identify mutations in the APC gene (Adenomatous Polyposis Coli. Methodology: analyses were performed from the perspective of the health system. We used a Markov model. We compared genetic testing for the APC gene, the cause of familial adenomatous polyposis (FAP, which results in

  1. Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

    DEFF Research Database (Denmark)

    Nilbert, Mef; Kristoffersson, Ulf; Ericsson, Mats

    2008-01-01

    for the extracolonic manifestations. Methods Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify APC gene mutations, which were correlated to the clinical presentations. Results 10 novel APC gene mutations were identified in 11 families. A broad spectrum...... of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC) both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA) developed colon...... cancer at age 72 as the first manifestation of attenuated FAP. Conclusion With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases...

  2. Melatonin and cortisol rhythm in patients with extensive nasal polyposis.

    Science.gov (United States)

    Fidan, Vural; Alp, Hamit Hakan; Kalkandelen, Sadettin; Cingi, Cemal

    2013-01-01

    Extensive nasal polyposis is an inflammatory disease which effects 1%-4% of normal population. The mechanism of its formation and the circadian rhythm of cortisol and melatonin in ENP have not investigated. Salivary levels of melatonin and cortisol were measured by radioimmunoassay in 31 patients with extensive nasal polyposis and in 27 control subjects matched for age and gender. In both groups none of the subjects did not have obstructive sleep apnea. The baseline and the peak levels of salivary melatonin in the extensive nasal polyposis group were significantly lower than in the control group (pmelatonin between the study and control groups (p>0.05). The highest values of melatonin were recorded at 04:00 h in both the study and control groups. The amplitude and the 24 h mean levels of salivary cortisol in the extensive nasal polyposis group were significantly lower than in the control group (pmelatonin and cortisol were found to be disrupted in patients with extensive nasal polyposis. These results may be applicable as therapeutic tools in the future and melatonin drugs might be useful in the therapy of nasal polyposis like cortisol drugs. Crown Copyright © 2013. Published by Elsevier Inc. All rights reserved.

  3. Structure of the human discs large 1 PDZ2- adenomatous polyposis coli cytoskeletal polarity complex: insight into peptide engagement and PDZ clustering.

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    Kevin C Slep

    Full Text Available The membrane associated guanylate kinase (MAGUK family member, human Discs Large 1 (hDlg1 uses a PDZ domain array to interact with the polarity determinant, the Adenomatous Polyposis Coli (APC microtubule plus end binding protein. The hDLG1-APC complex mediates a dynamic attachment between microtubule plus ends and polarized cortical determinants in epithelial cells, stem cells, and neuronal synapses. Using its multi-domain architecture, hDlg1 both scaffolds and regulates the polarity factors it engages. Molecular details underlying the hDlg1-APC interaction and insight into how the hDlg1 PDZ array may cluster and regulate its binding factors remain to be determined. Here, I present the crystal structure of the hDlg1 PDZ2-APC complex and the molecular determinants that mediate APC binding. The hDlg1 PDZ2-APC complex also provides insight into potential modes of ligand-dependent PDZ domain clustering that may parallel Dlg scaffold regulatory mechanisms. The hDlg1 PDZ2-APC complex presented here represents a core biological complex that bridges polarized cortical determinants with the dynamic microtubule cytoskeleton.

  4. [Prevalence of intolerance to salicylates in patients with nasal polyposis].

    Science.gov (United States)

    Castilla-Rodríguez, Jaisel Luz; Vargas-Camaño, María Eugenia; Rodríguez-Briceño, Rodrigo Alberto; Galicia-Tapia, Jorge; Castrejón-Vázquez, María Isabel

    2015-01-01

    Salicylates intolerance is related to alteration in the metabolism of arachidonic acid leading to increased leukotrienes. The condition may be manifested with respiratory, skin or systemic symptoms or associated with sinonasal polyposis. Salicylates are present in anti-inflammatory drugs, cosmetics products and food. To determine the prevalence of salicylates intolerance in patients with sinonasal polyposis presenting to Clinical Immunology and Allergy and Otolaryngology Service, CMN 20 Noviembre, Mexico City. An observational, descriptive, cross sectional study included patients with sinonasal polyposis. The sample size was 49 patients, and variables were compared using STATISTICA 8.0. The prevalence of sinonasal polyposis was 4% of the study group, predominantly in females; only 24% of the population had an ideal weight, the salicylates intolerance prevalence was 53%, and the Samter triad was 31%. Sinonasal polyposis has an inflammatory disease pattern. Its pathophysiology is not yet fully established and in this study was related to obesity and persistent sinusitis. The most feared complication recurrence is associated with salicylates intolerance. The study found a slight increase of recurrence in the group of intolerance, with no statistically significant difference, possibly related to the sample size.

  5. Downregulation of adenomatous polyposis coli by microRNA-663 promotes odontogenic differentiation through activation of Wnt/beta-catenin signaling

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae-Sung; Park, Min-Gyeong; Lee, Seul Ah; Park, Sun-Young; Kim, Heung-Joong; Yu, Sun-Kyoung; Kim, Chun Sung; Kim, Su-Gwan; Oh, Ji-Su; You, Jae-Seek; Kim, Jin-Soo; Seo, Yo-Seob [Oral Biology Research Institute, School of Dentistry, Chosun University, Gwangju 501-759 (Korea, Republic of); Chun, Hong Sung [Department of Biomedical Science, Chosun University, Gwangju 501-759 (Korea, Republic of); Park, Joo-Cheol [Department of Oral Histology-Developmental Biology, School of Dentistry and Dental Research Institute, BK 21, Seoul National University, Seoul 110-749 (Korea, Republic of); Kim, Do Kyung, E-mail: kdk@chosun.ac.kr [Oral Biology Research Institute, School of Dentistry, Chosun University, Gwangju 501-759 (Korea, Republic of)

    2014-04-18

    Highlights: • miR-663 is significantly up-regulated during MDPC-23 odontoblastic cell differentiation. • miR-663 accelerates mineralization in MDPC-23 odontoblastic cells without cell proliferation. • miR-663 promotes odontoblastic cell differentiation by targeting APC and activating Wnt/β-catenin signaling in MDPC-23 cells. - Abstract: MicroRNAs (miRNAs) regulate cell differentiation by inhibiting mRNA translation or by inducing its degradation. However, the role of miRNAs in odontogenic differentiation is largely unknown. In this present study, we observed that the expression of miR-663 increased significantly during differentiation of MDPC-23 cells to odontoblasts. Furthermore, up-regulation of miR-663 expression promoted odontogenic differentiation and accelerated mineralization without proliferation in MDPC-23 cells. In addition, target gene prediction for miR-663 revealed that the mRNA of the adenomatous polyposis coli (APC) gene, which is associated with the Wnt/β-catenin signaling pathway, has a miR-663 binding site in its 3′-untranslated region (3′UTR). Furthermore, APC expressional was suppressed significantly by miR-663, and this down-regulation of APC expression triggered activation of Wnt/β-catenin signaling through accumulation of β-catenin in the nucleus. Taken together, these findings suggest that miR-663 promotes differentiation of MDPC-23 cells to odontoblasts by targeting APC-mediated activation of Wnt/β-catenin signaling. Therefore, miR-663 can be considered a critical regulator of odontoblast differentiation and can be utilized for developing miRNA-based therapeutic agents.

  6. Surgical treatment of familial adenomatous polyposis: ileoretal anastomosis or restorative proctolectomy? Tratamento cirúrgico da polipose adenomatosa familiar: anastomose íleo-retal ou bolsa ileal?

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    Fábio Guilherme Campos

    2009-12-01

    Full Text Available CONTEXT: Controversy regarding the best operative choice for familial adenomatous polyposis lays between the morbidity of restorative proctocolectomy and the supposed mortality due to rectal cancer after ileorectal anastomosis. OBJECTIVES: To evaluate operative complications and oncological outcome after ileorectal anastomosis and restorative proctocolectomy. METHODS: Charts from patients treated between 1977 and 2006 were retrospectively analyzed. Clinical and endoscopic data, results of treatment, pathological reports and information regarding early and late outcome were recorded. RESULTS: Eighty-eight patients - 41 men (46.6% and 47 women (53.4% - were assisted. At diagnosis, 53 patients (60.2% already had associated colorectal cancer. Operative complications occurred in 25 patients (29.0 %, being 17 (19.7% early and 8 (9.3% late complications. There were more complications after restorative proctocolectomy (48.1% compared to proctocolectomy with ileostomy (26.6% and ileorectal anastomosis (19.0% (P = 0,03. There was no operative mortality. During the follow-up of 36 ileorectal anastomosis, cancer developed in the rectal cuff in six patients (16,6%. Cumulative cancer risk after ileorectal anastomosis was 17.2% at 5 years, 24.1% at 10 years and 43.1% at 15 years of follow-up. Age-dependent cumulative risk started at 30 years (4.3%, went to 9.6% at 40 years, 20.9% at 40 years and 52% at 60 years. Among the 26 patients followed after restorative proctocolectomy, it was found cancer in the ileal pouch in 1 (3.8%. CONCLUSIONS: 1. Operative complications occurred in about one third of the patients, being more frequently after the confection of ileal reservoir; 2. greater age and previous colonic carcinoma were associated with the development of rectal cancer after ileorectal anastomosis; 3. patients treated by restorative proctocolectomy are not free from the risk of pouch degeneration; 4. the disease complexity and the various risk factors

  7. Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.

    Science.gov (United States)

    Ajith Kumar, Vadakke Kanakath; Gold, June Anne; Mallon, Eleanor; Thomas, Shyamala; Hodgson, Shirley V

    2008-01-01

    MYH associated polyposis is an autosomal recessive polyposis syndrome with a high risk of large bowel cancer, caused by mutations in the DNA repair gene MYH. Founder mutations have been described in different ethnic groups. Muir Torre Syndrome is the association of internal malignancies with sebaceous gland tumours; Lynch Syndrome/Hereditary Non Polyposis Cancer is the best known cause. There has been a previous report of sebaceous gland tumours in an Italian patient with MYH associated polyposis. We describe a man of Indian (Gujarati) descent who has MYH associated polyposis and multiple sebaceous adenomas of the skin.

  8. A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene

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    Sanambar Sadighi

    2017-02-01

    Full Text Available Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (FAP as an extra-colonic manifestation of the disease. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. Although mild or attenuated FAP may follow mutations in 5΄ extreme of the gene, it is more likely that 3΄ extreme mutations haveamore severe manifestation of thedisease. A 28-year-old woman was admitted to the Cancer Institute of Iran with an abdominal painful mass. She had strong family history of FAP and underwent prophylactic total colectomy. Pre-operative CT scans revealed a large mass. Microscopic observation showed diffuse fibroblast cell infiltration of the adjacent tissue structures. Peripheral blood DNA extraction followed by adenomatous polyposis coli gene exon by exon sequencing was performed to investigate the mutation in adenomatous polyposis coli gene. Analysis of DNA sequencing demonstrated a mutation of 4 bpdeletions at codon 1309-1310 of the exon 16 of adenomatous polyposis coli gene sequence which was repeated in 3 members of the family. Some of them had desmoid tumor without classical FAP history. Even when there is no familial history of adenomatous polyposis, the adenomatous polyposis coli gene mutation should be investigated in cases of familial desmoids tumors for a suitable prevention. The 3΄ extreme of the adenomatous polyposis coli gene is still the best likely location in such families.

  9. DNA methylation patterns in blood of patients with colorectal cancer and adenomatous colorectal polyps.

    Science.gov (United States)

    Cassinotti, Elisa; Melson, Joshua; Liggett, Thomas; Melnikov, Anatoliy; Yi, Qilong; Replogle, Charles; Mobarhan, Sohrab; Boni, Luigi; Segato, Sergio; Levenson, Victor

    2012-09-01

    Colorectal cancer (CRC) screening rates are currently suboptimal. Blood-based screening could improve rates of earlier detection for CRC and adenomatous colorectal polyps. In this study, we evaluated the feasibility of plasma-based detection of early CRC and adenomatous polyps using array-mediated analysis methylation profiling of 56 genes implicated in carcinogenesis. Methylation of 56 genes in patients with Stages I and II CRC (N=30) and those with adenomatous polyps (N=30) were compared with individuals who underwent colonoscopy and were found to have neither adenomatous changes nor CRC. Composite biomarkers were developed for adenomatous polyps and CRC, and their sensitivity and specificity was estimated using five-fold cross validation. Six promoters (CYCD2, HIC1, PAX 5, RASSF1A, RB1 and SRBC) were selected for the biomarker, which differentiated CRC patients and controls with 84% sensitivity and 68% specificity. Three promoters (HIC1, MDG1 and RASSF1A) were selected for the biomarker, which differentiated patients with adenomatous polyps and controls with sensitivity of 55% and specificity of 65%. Methylation profiling of plasma DNA can detect early CRC with significant accuracy and shows promise as a methodology to develop biomarkers for CRC screening. Copyright © 2011 UICC.

  10. Risk of Colorectal and Other Cancers in Patients With Serrated Polyposis

    NARCIS (Netherlands)

    Edelstein, Daniel L; Cruz-Correa, Marcia; Soto-Salgado, Marievelisse; Axilbund, Jennifer E; Hylind, Linda M; Romans, Katharine; Blair, Cherie; Wiley, Elizabeth; Tersmette, Anne C; Offerhaus, Johan A; Giardiello, Francis M

    Patients with serrated polyposis develop multiple colorectal hyperplastic and/or serrated sessile adenomas/polyps. We investigated the risk of colorectal and other cancers by analyzing data from 64 patients with serrated polyposis (mean age at diagnosis, 54 y; 41% men; 92% white) listed in the Johns

  11. Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives

    NARCIS (Netherlands)

    Hazewinkel, Yark; Nagengast, Fokko M.; Vasen, Hans F.; van Os, Theo A. M.; van Leerdam, Monique E.; Koornstra, Jan-Jacob; Dekker, Evelien; Reitsma, J.

    2013-01-01

    Serrated polyposis syndrome is associated with an increased colorectal cancer risk. Although the underlying genetic cause of the condition is unknown, first-degree relatives of patients with serrated polyposis have an increased risk for colorectal cancer compared with the general population. This

  12. Manifestações extracolônicas da polipose adenomatosa familiar: incidência e impacto na evolução da doença Extracolonic manifestations of familial adenomatous polyposis: incidence and impact on the disease outcome

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    Fábio Guilherme Campos

    2003-06-01

    Full Text Available RACIONAL: A polipose adenomatosa familiar é doença hereditária de caráter autossômico dominante, que freqüentemente se associa a numerosas manifestações extracolônicas. OBJETIVOS: Relatar a incidência de manifestações extracolônicas em nosso meio e analisar seu impacto na evolução da doença. PACIENTES E MÉTODOS: Revisão dos prontuários de pacientes com polipose adenomatosa familiar tratados no período de 1977 a 2001, relatando as manifestações extracolônicas associadas e suas complicações. RESULTADOS: Dos 59 pacientes com polipose adenomatosa familiar, 23 (38,9% apresentaram alguma manifestação extracolônica por ocasião do diagnóstico ou no seguimento. Foram registradas 37 diferentes manifestações (1,6 por paciente. As mais comuns foram osteomas e alterações na pigmentação da retina, diagnosticadas em 25% e 20% dos pacientes pesquisados, respectivamente. Outras manifestações extracolônicas achadas foram adenomas do trato digestivo superior, cistos epidermóides, tumores desmóides (sete cada, câncer gástrico (três e câncer de tireóide (dois. Complicações importantes diretamente relacionadas aos tumores desmóides foram reportadas em seis pacientes, sendo obstrução intestinal em quatro e hidronefrose em dois. Registraram-se óbitos em dois pacientes (28,5%. CONCLUSÕES: A incidência de manifestações extracolônicas é alta (40%, podendo afetar a evolução da doença e a qualidade de vida dos pacientes. Por esses motivos, torna-se de fundamental importância a pesquisa, a prevenção e o tratamento adequado dessas manifestações na polipose adenomatosa familiar.BACKGROUND: Familial adenomatous polyposis is a hereditary disease with autossomic and dominant features, frequently associated to many extracolonic manifestations. AIM: To report extracolonic manifestations incidence and to analyze its impact on the disease's outcome. PATIENTS AND METHODS: Revision of patient charts treated from 1977 to

  13. Prevalence of colorectal adenomatous polyps in patients with chronic obstructive pulmonary disease

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    Chun EM

    2015-05-01

    Full Text Available Eun Mi Chun, Seo Woo Kim, So Yeon Lim Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Republic of Korea Background: Colorectal adenomatous polyps are precancerous lesions of colorectal cancer. The aim of this study was to assess the prevalence of colorectal adenomatous polyps in chronic obstructive pulmonary disease (COPD patients and determine whether COPD is associated with colorectal malignant potential.Methods: Subjects who had undergone post-bronchodilator spirometry and colonoscopy and were 40 years or older were selected from the hospital database. COPD was defined as a spirometry in which the ratio of forced expiratory volume in 1 second (FEV1 and forced vital capacity (FVC is <0.7 in post-bronchodilator spirometry. The non-COPD group was matched for both age and sex, and were defined as having an FEV1, FVC, and FEV1/FVC ≥0.7 in spirometry. Finally, 333 patients were retrospectively reviewed; of this group, 82 patients had COPD.Results: Among the subjects, 201 patients (60% were nonsmokers, while 78 (23% were current smokers. The prevalence of colorectal adenomatous polyps was 39% (98/251 in the non-COPD group and 66% (54/82 in the COPD group. Among 54 patients with adenomatous polyps in the COPD group, 47 had tubular adenoma and seven had villous adenoma. Multiple logistic regression analyses revealed that only COPD patients whom matched to the criteria of COPD by pulmonary function test (odds ratio 2.1, 95% confidence interval: 1.1–3.8; P=0.019 were independently associated with colorectal malignant potential.Conclusion: The risk of colorectal malignant potential in the COPD group was higher than in the non-COPD group. We may suggest that COPD patients should consider regular colonoscopic evaluation to screen for premalignant colon polyps regardless of smoking. Keywords: COPD, colorectal adenomatous polyp, smoking, chronic obstructive pulmonary

  14. Colonoscopia com magnificação de imagem no diagnóstico de carcinoma colorretal invasivo da submucosa na polipose adenomatosa familiar Magnifying colonoscopy diagnosis of submucosal invasive colorectal carcinoma in familial adenomatous polyposis

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    Cláudio TARTA

    2000-04-01

    Full Text Available O desenvolvimento da colonoscopia com magnificação de imagem possibilitou o estudo detalhado da mucosa colônica e o diagnóstico diferencial entre lesões neoplásicas e não-neoplásicas, a partir da observação dos pit patterns. Os resultados são comparáveis à estereomicroscopia, sendo possível, assim, presumir o diagnóstico histológico. Foi realizada colonoscopia com magnificação de imagem em paciente portadora de polipose adenomatosa familiar, demonstrando-se com este método, a diversidade de lesões polipóides benignas e as apresentações morfológicas do câncer colorretal precoce. Nesta paciente, a avaliação por magnificação (videocolonoscópio FUJINON 410 - CM -- 40X, combinada à cromoscopia com indigo carmine 0,4%, demonstrou ampla variedade de lesões distribuídas por todo o cólon: lesão de espalhamento lateral no ceco com padrão IIIL + IV, pólipos subpediculados e sésseis distribuídos pelo cólon com padrão tipo IIIL, pólipo subpediculado no cólon transverso com diâmetro aproximado de 2,0 cm e padrão IV + V, lesões plano-elevadas tipo IIIL e no cólon sigmóide lesão IIa + IIc, com padrão V de Kudo. A avaliação dos pit patterns de lesões no cólon transverso e sigmóide permitiu o diagnóstico endoscópico de lesão com invasão de submucosa.The development of colonoscopy with image magnification has enable to study the colonic mucosa in detail and to do differential diagnosis between neoplastic and non-neoplastic lesions from the observation of pit patterns. The results are comparable to stereomicroscopy being possible to predict the histologic diagnosis. In a patient with familial adenomatous polyposis magnifying colonoscopy was performed and this method demonstrated a wide variaton of benign polypoid lesions and the morphological features of early colorectal cancer. In this patient, the evaluation by image magnification, together with indigo carmin 0,4% chromoscopy, showed a wide variety of

  15. MUTYH-Associated Polyposis: The Irish Experience

    LENUS (Irish Health Repository)

    McVeigh, TP

    2016-11-01

    MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH". Phenotypic and genotypic details were obtained by chart review. Bi-allelic mutations were confirmed in 26 individuals (17 families), of whom 16 (62%) developed colorectal malignancies, and 22(85%) polyposis. Eleven families had bi-allelic status for one\\/both common European mutations. Regional variation was noted, with over-representation of bi-allelic mutation carriers in the South-west of Ireland. MAP is under-diagnosed in Ireland. Increased awareness is required to facilitate appropriate identification and surveillance of bi-allelic mutation carriers for colorectal pathology.

  16. Prevalence of fungal biofilms in patients with nasal polyposis: a systematic review

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    Navid Nourizadeh

    2015-01-01

    Full Text Available Introduction: There are many internal and external factors that are considered as the main causes of nasal infections and inflammation in chronic rhinosinusitis (CRS leading to polyposis. It is suggested that bacterial and fungal elements have an important role in the development of these diseases. Method: Scopus and PubMed were searched thoroughly on 1 February 2015 with the following search terms: (fungal biofilms AND (nasal polyposis to find the articles in which the prevalence of fungal biofilms had been evaluated in patients with nasal polyposis. Only English language articles with no time limitation were included in this study.Result: Of 48 records found by initial search, only 10 articles met the inclusion criteria. Data showed that the presence of biofilms is associated with nasal polyposis in 110 of 303 patients and 13 of controls.Discussion: The results of studies confirm that the fungal biofilms play an important role in the pathogenesis of chronic rhinosinusitis with nasal polyposis.Conclusions: According to the results of included studies, there is a close association between the presence of fungal biofilm and different types of nasal disorders including nasal polyposis.

  17. Prevalence of colorectal adenomatous polyps in patients with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Chun, Eun Mi; Kim, Seo Woo; Lim, So Yeon

    2015-01-01

    Colorectal adenomatous polyps are precancerous lesions of colorectal cancer. The aim of this study was to assess the prevalence of colorectal adenomatous polyps in chronic obstructive pulmonary disease (COPD) patients and determine whether COPD is associated with colorectal malignant potential. Subjects who had undergone post-bronchodilator spirometry and colonoscopy and were 40 years or older were selected from the hospital database. COPD was defined as a spirometry in which the ratio of forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) is COPD group was matched for both age and sex, and were defined as having an FEV1, FVC, and FEV1/FVC ≥0.7 in spirometry. Finally, 333 patients were retrospectively reviewed; of this group, 82 patients had COPD. Among the subjects, 201 patients (60%) were nonsmokers, while 78 (23%) were current smokers. The prevalence of colorectal adenomatous polyps was 39% (98/251) in the non-COPD group and 66% (54/82) in the COPD group. Among 54 patients with adenomatous polyps in the COPD group, 47 had tubular adenoma and seven had villous adenoma. Multiple logistic regression analyses revealed that only COPD patients whom matched to the criteria of COPD by pulmonary function test (odds ratio 2.1, 95% confidence interval: 1.1-3.8; P=0.019) were independently associated with colorectal malignant potential. The risk of colorectal malignant potential in the COPD group was higher than in the non-COPD group. We may suggest that COPD patients should consider regular colonoscopic evaluation to screen for premalignant colon polyps regardless of smoking.

  18. Bleomycin sensitivity in patients with familial and sporadic polyposis: a pilot study

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    Magaly M. Sales

    1999-03-01

    Full Text Available Human peripheral blood lymphocytes from 10 patients with familial adenomatous polyposis (FAP showed a significantly higher incidence of chromatid breaks when compared to cells from 10 normal individuals, after exposure to bleomycin (BLM during the G2 phase. However, no significant increase in bleomycin sensitivity was observed in lymphocytes from 10 patients with sporadic adenomatous polyps (AP vs. 10 normal individuals (P = 0.67. Individuals that exhibited an average number of chromatid breaks per cell higher than 0.80 were considered sensitive to the drug. No control showed susceptibility to BLM, as compared to 3 out of 20 patients.Inúmeros estudos têm mostrado que fibroblastos de pacientes com adenomatose hereditária de cólon e reto, que inclui polipose adenomatosa familial (FAP e a síndrome de Gardner, apresentam uma freqüência aumentada de aberrações cromossômicas após exposição a agentes físicos ou químicos, quando comparados aos controles normais. Para determinar a sensibilidade de linfócitos de pacientes com FAP e também com pólipos adenomatosos esporádicos (AP usou-se o radiomimético bleomicina (BLM. Foram estudados citogeneticamente 10 indivíduos com AP, 10 com FAP e 20 controles normais, pareados por sexo e idade. Indivíduos que apresentaram valores médios de quebras cromatídicas por célula superiores a 0,80 foram considerados sensíveis à droga. Observou-se uma diferença significativa entre pacientes com FAP e controles quanto às freqüências de quebras cromatídicas nos linfócitos tratados na fase G2. Entretanto, nenhuma diferença significativa foi observada entre pacientes com AP e controles quanto às freqüências de quebras cromatídicas nos linfócitos tratados. Nenhum indivíduo do grupo controle foi sensível à BLM e, entre os 20 pacientes, três mostraram suscetibilidade à droga. Não foi encontrada diferença significativa quanto a resposta à bleomicina entre indivíduos do sexo masculino e

  19. Mixed polyposis coli: Report of a rare entity with review of literature

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    Chalapathi Rao

    2013-01-01

    Full Text Available Colorectal polyps may be detected incidentally on a screening colonoscopy or when they present with symptoms like anemia or gastrointestinal bleeding. Early recognition and prompt management of polyps can cure the primary disease and prevent future risk of malignancies in the patient and provide an opportunity to screen the families in cases of inherited polyposis syndromes. We report a case of rectal bleeding due to colorectal polyps of varying histology. Histology showed hyperplastic polyp, juvenile polyps (JP with focal dysplasia, adenomatous polyp and villous adenoma with dysplasia. He underwent total proctocolectomy with ileal pouch anal anastomosis (J-pouch (TP-IPAA. Mixed polyposis syndrome is a rare entity.

  20. Yield of Screening Colonoscopy in First-degree Relatives of Patients With Serrated Polyposis Syndrome

    NARCIS (Netherlands)

    Hazewinkel, Yark; Koornstra, Jan-Jacob; Boparai, Karam S.; van Os, Theo A. M.; Tytgat, Kristien M. A. J.; Van Eeden, Susanne; Fockens, Paul; Dekker, Evelien

    2015-01-01

    Goals: We aimed to evaluate the diagnostic yield of screening colonoscopies in first-degree relatives (FDRs) of patients with serrated polyposis syndrome (SPS). Background: Patients with SPS are at an increased risk for colorectal cancer. Although inheritance patterns are unknown, FDRs of these

  1. Evaluation of skin prick test sensitivity for 37 allergen extracts in atopic patients with nasal polyposis

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    Z A Ashour

    2014-01-01

    Conclusion Negative SPT does not exclude allergy in atopic patients with nasal polyposis. Thus, before delivering a diagnosis of nonallergic rhinitis in patients with negative SPT to common allergen, further tests are needed. We recommend further studies to evaluate the prevalence, immunopathology, and management of local allergic rhinitis.

  2. Development and validation of a highly sensitive urine-based test to identify patients with colonic adenomatous polyps.

    Science.gov (United States)

    Wang, Haili; Tso, Victor; Wong, Clarence; Sadowski, Dan; Fedorak, Richard N

    2014-03-20

    Adenomatous polyps are precursors of colorectal cancer; their detection and removal is the goal of colon cancer screening programs. However, fecal-based methods identify patients with adenomatous polyps with low levels of sensitivity. The aim or this study was to develop a highly accurate, prototypic, proof-of-concept, spot urine-based diagnostic test using metabolomic technology to distinguish persons with adenomatous polyps from those without polyps. Prospective urine and stool samples were collected from 876 participants undergoing colonoscopy examination in a colon cancer screening program, from April 2008 to October 2009 at the University of Alberta. Colonoscopy reference standard identified 633 participants with no colonic polyps and 243 with colonic adenomatous polyps. One-dimensional nuclear magnetic resonance spectra of urine metabolites were analyzed to define a diagnostic metabolomic profile for colonic adenomas. A urine metabolomic diagnostic test for colonic adenomatous polyps was established using 67% of the samples (un-blinded training set) and validated using the other 33% of the samples (blinded testing set). The urine metabolomic diagnostic test's specificity and sensitivity were compared with those of fecal-based tests. Using a two-component, orthogonal, partial least-squares model of the metabolomic profile, the un-blinded training set identified patients with colonic adenomatous polyps with 88.9% sensitivity and 50.2% specificity. Validation using the blinded testing set confirmed sensitivity and specificity values of 82.7% and 51.2%, respectively. Sensitivities of fecal-based tests to identify colonic adenomas ranged from 2.5 to 11.9%. We describe a proof-of-concept spot urine-based metabolomic diagnostic test that identifies patients with colonic adenomatous polyps with a greater level of sensitivity (83%) than fecal-based tests.

  3. Carcinosarcoma with choriocarcinomatous and osteosarcomatous differentiation in a patient with juvenile polyposis syndrome

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    Rafael Parra-Medina

    2015-09-01

    Full Text Available Juvenile polyposis syndrome (JPS is an infrequent autosomal dominant hereditary predisposition to the occurrence of hamartomatous polyps in the colon and rectum. We describe the case of a 12-year-old boy with JPS associated with an abdominal tumor. Histological sections of the abdominal tumor showed components of adenocarcinoma, osteosarcoma, and choriocarcinoma. Immunohistochemistry was AE1/AE3, CK7, HCG and SALL4 positive. Juvenile polyposis syndrome patients are at increased risk of colorectal adenocarcinoma. However, we present a case of an adenocarcinoma associated with other unusual components. This association has not been reported before.

  4. Korean type 2 diabetes patients have multiple adenomatous polyps compared to non-diabetic controls.

    Science.gov (United States)

    Suh, Sunghwan; Kang, Mira; Kim, Mi Yeon; Chung, Hye Soo; Kim, Soo Kyoung; Hur, Kyu Yeon; Kim, Jae Hyeon; Lee, Myung-Shik; Lee, Moon Kyu; Kim, Kwang-Won

    2011-09-01

    We tested the correlation between diabetes and aggressiveness of colorectal polyps in diabetic patients and matched non-diabetic controls. We retrospectively studied 3,505 type 2 diabetes (T2DM) patients without gastrointestinal symptoms who underwent colonoscopy for colorectal cancer at Samsung Medical Center, Seoul, Korea from August 1995 to August 2009. We matched 495 non-diabetic subjects with colon polyps to the diabetic patients in whom polyps were detected by year of colonoscopy, age, sex and body mass index (BMI). Among the 3,505 T2DM patients screened, 509 were found to have 1,136 colon polyps. Those with diabetes had a greater proportion of adenomatous polyps (62.8% vs 53.6%) compared to the control. Multivariate logistic regression analysis identified DM, male gender, age and BMI as independent risk factors for multiple polyps (more than three polyps). Polyp multiplicity in diabetic patients was significantly associated with male gender (OR 2.360, P = 0.005), age (OR 1.033, P = 0.005) and BMI (OR 1.077, P = 0.028). Neither aspirin nor metformin use affected either size or number of polyps in diabetic patients. Male patients older than 65 yr with T2DM and BMI greater than 25 have increased risk for multiple adenomatous polyps and should be screened with colonoscopy to prevent colorectal cancer.

  5. Gastric Polyposis: A Rare Cause of Iron Deficiency Anemia in a Patient With Portal Hypertension.

    Science.gov (United States)

    Nagpal, Sajan Jiv Singh; Macaron, Carole; Pai, Rish K; Alkhouri, Naim

    2015-01-01

    Portal hypertension leading to gastric polyposis has rarely been reported. More common gastric manifestations of portal hypertension are portal hypertensive gastropathy and gastric antral vascular ectasia (GAVE). We report a case of a patient in whom portal hypertension manifested as bleeding gastric polyps leading to transfusion-dependent iron deficiency anemia.

  6. Gastric Polyposis: A Rare Cause of Iron Deficiency Anemia in a Patient With Portal Hypertension

    OpenAIRE

    Nagpal, Sajan Jiv Singh; Macaron, Carole; Pai, Rish K.; Alkhouri, Naim

    2015-01-01

    Portal hypertension leading to gastric polyposis has rarely been reported. More common gastric manifestations of portal hypertension are portal hypertensive gastropathy and gastric antral vascular ectasia (GAVE). We report a case of a patient in whom portal hypertension manifested as bleeding gastric polyps leading to transfusion-dependent iron deficiency anemia.

  7. Using Genetics to Identify Hereditary Colorectal Polyposis and Cancer Syndromes in Your Patient.

    Science.gov (United States)

    Macaron, Carole; Heald, Brandie; Burke, Carol A

    2015-10-01

    The majority of patients with colorectal polyps and cancer do not have a Mendelian cause of the disease. Age, lifestyle, and environmental factors interact with complex genetic traits to contribute to the etiology. However, approximately 5-10 % of patients with colorectal cancer (CRC) and more than 40 % of patients meeting specific clinical features of the hereditary polyposis syndromes have a discoverable, actionable genetic cause which will significantly alter their medical management.

  8. The Relative Frequency of Allergic Fungal Rhinosinusitis in Patients with Nasal Polyposis in Rasht City, Iran

    Directory of Open Access Journals (Sweden)

    Hooshang Gerami

    2017-03-01

    Full Text Available Background and Objectives: Allergic fungal rhinosinusitis (AFRS is a relatively new and known disease with effective treatment, which belongs to the group of nasal polyposis diseases. According to high prevalence of AFRS in regions with warm and humid climate, the aim of this study was to detect the frequency of AFRS in patients with chronic rhinosinusitis (CRS and nasal polyposis in Amir-al-momenin Hospital in Rasht city. Methods: During functional endoscopic sinus surgery, the samples were collected from 55 patients with CRS along with nasal polyposis and were examined in terms of histopathology, mycology, culture and total serum IgE level. Data were analyzed using chi-square and exact Fisher’s tests. Results: In this study, 17 (30.9% female and 38 (69.1% male patients with the mean age of 38.34±12.67 years, were participated. History of Atopia was seen in 54.5% of the patients, asthma in 25.5%, and blood eosinophilia (>6% in 26.9%. Total serum IgE level was reported higher than natural value in 48.9% of the patients. Based on Kuhn and Benet criteria, the relative frequency of AFRS was 5.5% (3 patients and nonfungal eosinophilic mucin rhinosinusitis (NF-EMRS was 16.4% (9 patients. In AFRS patients, 3 cases had atopy, 3 were eosinophilic mucin positive, 2 cases had asthma, 1 direct smear-positive, 3 positive PAS staining, and 1 positive (Aspergillus fumigatus culture. Conclusion: In sinus samples of the studied patients, the frequency of eosinophilic mucin was much higher compared to other reports. Although, the frequency of positive smear and fungal culture is lower than other similar studies.

  9. Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients

    NARCIS (Netherlands)

    M. Nielsen (Maartje); L.N. van Steenbergen (Liza); N. Jones (Natalie); S. Vogt (Stefanie); H.F. Vasen (Hans); H. Morreau (Hans); S. Aretz (Stefan); J. Sampson (Julian); O.M. Dekkers (Olaf); M.L.G. Janssen-Heijnen (Maryska); F.J. Hes (Frederik)

    2010-01-01

    textabstractBackground MUTYH-associated polyposis is a recessively inherited disorder characterized by a lifetime risk of colorectal cancer that is up to 100%. Because specific histological and molecular genetic features of MUTYH-associated polyposis colorectal cancers might influence tumor behavior

  10. Management of Peutz-Jeghers syndrome. Experience with patients from the Danish Polyposis Register

    DEFF Research Database (Denmark)

    Rebsdorf Pedersen, I; Hartvigsen, A; Fischer Hansen, B

    1994-01-01

    rate are followed with few examinations. The programme includes upper and lower gastrointestinal endoscopy, small bowel enema and in cases with large or symptomatic polyps, laparotomy with intraoperative total enteroscopy with polypectomy as required. Pelvic examination, cervical smear, breast......Danish patients with Peutz-Jeghers syndrome are registered in the Danish Polyposis Register. We have initiated a new follow-up programme based on recent literature including our own cases. This has been adjusted to the regrowth rate of the polyps whereby patients with no symptoms and low regrowth...

  11. The assessment of nasality with a nasometer and sound spectrography in patients with nasal polyposis.

    Science.gov (United States)

    Hong, K H; Kwon, S H; Jung, S S

    1997-10-01

    With the development of computerized acoustic analysis systems, an objective measure of nasal speech has become readily available by means of a simple, noninvasive technique. In this study, we assessed the nasality in patients with multiple nasal polyposis before and after endoscopic sinus surgery. With the nasometer, we measured nasalance, which reflects the ratio of acoustic energy output of nasal sounds from the nasal and oral cavities, and the slope score of the nasogram curve. The nasalance scores of nasal sentences and the slope scores of the nasogram curves for all nasal consonants were significantly lower in patients with nasal polyposis than in healthy subjects. After surgery, however, the nasalance and slope scores increased significantly to the normal range. On the sound spectrographic analysis, the frequencies of the first nasal formant decreased slightly and the sound intensity increased slightly for all nasal consonants after surgery. However, no significant change was noticed in the frequencies of the second nasal formant. In conclusion, nasometric and sound spectrographic analyses are considered to be useful tools for objectively assessing the extent of nasality in patients with nasal airway obstruction.

  12. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts

    Energy Technology Data Exchange (ETDEWEB)

    Koh, Kwang Joon; Park, Ha Na; Kim, Kyoung A [Dept. of Oral and Maxillofacial Radiology, School of Dentistry and Institute of Oral Bioscience, Chonbuk National University, Jeonju (Korea, Republic of)

    2016-12-15

    Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.

  13. Pattern of cell kinetics in colorectal mucosa of patients with different types of adenomatous polyps of the large bowel

    Energy Technology Data Exchange (ETDEWEB)

    Roncucci, L.; Scalmati, A.; Ponz de Leon, M. (Colorectal Cancer Study Group, University of Modena (Italy))

    1991-08-15

    It is generally accepted that adenomatous polyps represent the natural precursor of many colorectal malignancies. The sequence, however, which leads from a normally appearing mucosa to cancer is complex and involves many steps, including a hyperproliferative mucosa with an upward expansion of the replicative compartment. The current study evaluates cell replication in normal colorectal mucosa of patients with adenomatous polyps of various types and relates the observed findings to the main clinical and morphologic features of adenomas. Forty-four patients with polyps and 27 controls entered the study. Samples of colorectal mucosa were taken at endoscopy and cell replication was evaluated with a standard autoradiographic procedure. Cell replication was expressed as labeling index (LI), in the whole crypt and in each of the five longitudinal compartments in which the crypts were divided. Total LI and LI per crypt compartment were significantly higher (P less than 0.02 and P less than 0.01, respectively) than in controls. There was no appreciable difference of LI values between patients with single or multiple, tubular or tubulovillous, small or large adenomas, but in all of these subgroups LI was significantly higher than in controls. In conclusion, in normally appearing colorectal mucosa of patients with adenomatous polyps there was a significant increase of cell replication and a marked upward expansion of the proliferative zone; these changes were more evident in the left colon and in the rectum. Finally, cell replication did not seem to be related to the number of polyps, to the most common histotypes, or to the pattern of recurrence.

  14. Recurrent pancreatitis in Gardner variant familial polyposis: etiology, diagnostic approach, and interventional results.

    Science.gov (United States)

    Wright, B E; Kozarek, R A; Traverso, L W; Wechter, D; Thirlby, R; Raltz, S L

    1999-03-01

    Pancreatitis arising from an obstructing ampullary neoplasm in patients with Gardner variant familial polyposis is an infrequently described clinical entity. We reviewed all patients with Gardner variant polyposis presenting with pancreatitis during a 12-year period in our institution, hoping to better define etiology and the appropriate diagnostic and interventional approach. A retrospective record review (1986-1998) defined patient demographics, presenting features, initial and subsequent endoscopic retrograde cholangiopancreatography (ERCP) findings, subsequent treatments, and both immediate and long-term outcomes. Particular consideration was given to initial post-ERCP diagnosis and to endoscopic interventions undertaken at that time. We also looked at those patients who eventually required surgical intervention after long-term failure of medical and endoscopic therapy, the indications for surgery, final pathological characteristics, and follow-up results. Eight patients (6 women and 2 men), with a mean age of 42 years at initial presentation, were found. Each patient was known to have Gardner variant familial polyposis at the time of the initial bout of pancreatitis. All had undergone prior colectomy and 4 of 8 had undergone prior cholecystectomy. None were known to be taking medications or ingesting pancreatoxic substances. Five of 8 patients had obstructing focal or diffuse adenomatous disease involving the ampulla. Two of 8 patients had pancreatitis attributed to other causes (divisum, stones) and a single patient had no clear etiology. Three of 5 patients with ampullary adenomatous disease underwent pancreaticoduodenectomy for recurrent adenomatous encroachment and ampullary stenosis, despite repetitive snare resection and papillotomy. All of these patients had ampullary and other duodenal adenomas, and none had malignant disease. Patients presenting with pancreatitis in the setting of Gardner variant familial polyposis will frequently have an obstructing

  15. Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Brusgaard, Klaus; Hansen, Tine Plato

    2016-01-01

    OBJECTIVE: A subgroup of patients with hamartomatous polyps in the GI tract has a hereditary Hamartomatous Polyposis Syndrome with an increased risk of cancer. The distinction between patients with one or few polyps and patients with a syndrome can be difficult. A pathogenic germline mutation can...... be detected in a majority of HPS patients. This study investigates whether patients with one or few hamartomatous polyps could have a syndrome based on genetic screening of relevant genes. METHODS: We designed a gene panel including 26 hamartomatous polyposis-associated genes. Using targeted Next Generation...... significance of genetic variants can be difficult to interpret. A family history of polyps, cancer, or extraintestinal findings or a minimum of 3-5 polyps seems to be relevant information to include before genetic testing....

  16. Effects of smell loss on daily life and adopted coping strategies in patients with nasal polyposis with asthma.

    Science.gov (United States)

    Nordin, Steven; Blomqvist, Ebba Hedén; Olsson, Petter; Stjärne, Pär; Ehnhage, Anders

    2011-08-01

    Results from prior studies of quality of life (QoL) in heterogeneous patient groups (regarding disorder type and etiology) with olfactory disorders may be useful also for understanding QoL in homogeneous patient groups. Diagnosis and treatment of smell loss should be given high priority in polyposis with asthma, and coping strategies can be suggested to these patients. To investigate the effects of smell loss on daily life and coping strategies in patients with smell loss without dysosmia and with nasal polyposis with asthma as the only primary etiology, and to compare these results with those from a prior study of a patient group with heterogeneous olfactory disorders and etiology. Fifty patients with smell loss and with nasal polyposis and asthma responded to questions about consequences of smell loss, QoL, psychological well-being and distress, and coping strategies. Negative consequences of smell loss, associated risks, and diminished food enjoyment were commonly reported, and various aspects of QoL were rated as being deteriorated. Psychological well-being was found to be poorer than normal, and use of both problem- and emotion-focused strategies was common. The results from this homogeneous patient group are very similar to those previously obtained from a heterogeneous group.

  17. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...

  18. Sleep quality improves with endoscopic sinus surgery in patients with chronic rhinosinusitis and nasal polyposis.

    Science.gov (United States)

    Värendh, M; Johannisson, A; Hrubos-Strøm, H; Andersson, M

    2017-03-01

    Chronic Rhinosinusitis with Nasal Polyposis (CRSwNP) is a chronic disease that has a major impact on generic and disease-specific quality of life. Little is known about the influence of CRSwNP on sleep and what effect surgery for CRSwNP has on sleep quality. The aim of the study was to investigate sleep quality in patients with CRSwNP before and after endoscopic surgery. Forty-two patients filled out four validated sleep questionnaires and one sino/nasal, disease specific quality of life questionnaire before surgery and three months later. A healthy control group filled out the same questionnaires at baseline and after three months. An impact on sleep patterns was found in all sleep questionnaires and surgery clearly improved the quality of sleep. The Sino-nasal outcome test sum score decreased from median 51,5 to 26,5. Epworth sleepiness scale showed a decline in score from score 7.5 to 6.0. Surgery also reduced the risk for obstructive sleep apnoea in 13 patients evaluated by the Berlin Questionnaire and Multivariable Apnea Prediction Index. Patients with CRSwNP had impaired sleep quality, daytime sleepiness, nasal patency, and risk for sleep apnea, all of which improved after corrective surgery.

  19. Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice.

    Science.gov (United States)

    Baker, S M; Harris, A C; Tsao, J L; Flath, T J; Bronner, C E; Gordon, M; Shibata, D; Liskay, R M

    1998-03-15

    Analysis of two human familial cancer syndromes, hereditary nonpolyposis colorectal cancer and familial adenomatous polyposis, indicates that mutations in either one of four DNA mismatch repair gene homologues or the adenomatous polyposis coli (APC) gene, respectively, are important for the development of colorectal cancer. To further investigate the role of DNA mismatch repair in intestinal tumorigenesis, we generated mice with mutations in both Apc and the DNA mismatch repair gene, Pms2. Whereas Pms2-deficient mice do not develop intestinal tumors, mice deficient in Pms2 and heterozygous for Min, an allele of Apc, develop approximately three times the number of small intestinal adenomas and four times the number of colon adenomas relative to Min and Pms2+/-;Min mice. Although Pms2 deficiency clearly increases adenoma formation in the Min background, histological analysis indicated no clear evidence for progression to carcinoma.

  20. Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

    NARCIS (Netherlands)

    Niessen, R.C.; Berends, M.J.; Wu, Y.; Sijmons, R.H.; Hollema, H.; Ligtenberg, M.J.L.; Walle, H.E. de; Vries, E.G.F. de; Karrenbeld, A.; Buys, C.H.C.M.; Zee, A.G. van der; Hofstra, R.M.; Kleibeuker, J.H.

    2006-01-01

    BACKGROUND: Patients with early-onset colorectal cancer (CRC) or those with multiple tumours associated with hereditary non-polyposis colorectal cancer (HNPCC) raise suspicion of the presence of germline DNA mismatch repair (MMR) gene mutations. AIM: To analyse the value of family history,

  1. Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer

    NARCIS (Netherlands)

    Niessen, R C; Berends, M J W; Wu, Y; Sijmons, R H; Hollema, H; Ligtenberg, M J L; de Walle, H E K; de Vries, E G E; Karrenbeld, A; Buys, C H C M; van der Zee, A G J; Hofstra, R M W; Kleibeuker, J H

    2006-01-01

    Background: Patients with early-onset colorectal cancer (CRC) or those with multiple tumours associated with hereditary non-polyposis colorectal cancer (HNPCC) raise suspicion of the presence of germline DNA mismatch repair (MMR) gene mutations. Aim: To analyse the value of family history,

  2. Effectiveness of itraconazole on clinical symptoms and radiologic findings in patients with recurrent chronic rhinosinusitis and nasal polyposis

    Directory of Open Access Journals (Sweden)

    Mostafa Hashemi

    2014-01-01

    Full Text Available Background: This study was done to evaluate the effect of itraconazole on clinical symptoms and radiologic findings in patients with chronic rhinosinusitis and nasal polyposis after surgery. Materials and Methods: In a clinical trial which was conducted in Alzahra and Kashani hospitals, from November 2011 to December 2012, 22 patients with recurrent postsurgical chronic sinusitis and polyposis entered the study. At the start of the study demographic data, subjective clinical symptoms (severity of rhinorrhea, nasal obstruction, hyposmia, and dyspnea, quality of life (QoL by sinonasal outcome test-20 (SNOT-20, serum immunoglobulin E (IgE, and score of computed tomography (CT scan (by Lund-Mackay were recorded. Itraconazole (100 mg, twice per day prescribed for 3 months and patients were followed in the 1 st , 3 rd , and 6 th months. Liver enzyme tests and side effects were evaluated monthly. Results: Severity of rhinorrhea, nasal obstruction, hyposmia, dyspnea, and QoL (by SNOT-20 improved during 3 months of treatment. Serum IgE was 265 (±277 at the start of the study, and decrease to 193 (±183 after 3 month. After 3 month, Lund-Mackay score of CT scan lowered from 19 (±4 to 15 (±6 (P < 0.05. At the 6 th month, severity of clinical symptoms except dyspnea and QoL were better than first evaluation. Conclusion: This study showed the beneficial effect of 3-month itraconazole treatment on clinical symptoms and radiologic findings and QoL in patients with recurrent postsurgical chronic rhinosinusitis and nasal polyposis.

  3. Atividade inflamatória em mucosa de reservatório ileal na polipose adenomatosa familiar e retocolite ulcerativa inespecífica: avaliação da expressão de TNF-alfa e IL-1beta, e da ativação NF- kapaB Inflammatory activity in pelvic ileal pouches for familial adenomatous polyposis and ulcerative colitis: expression of TNF-alpha, IL-1beta and the activation of NF- kappaB

    Directory of Open Access Journals (Sweden)

    Raquel Franco Leal

    2006-12-01

    Full Text Available A ileíte do reservatório pós retocolectomia total constitui uma das complicações mais comuns nos doentes com RCUI, apresentando pequena freqüência nos doentes com PAF. OBJETIVO: Avaliar a atividade inflamatória em mucosa de reservatórios ileais endoscopicamente normais, através da expressão de TNF-alfa, NF-kapaB e IL-1beta. CASUÍSTICA E MÉTODOS: Selecionaram-se 20 doentes submetidos à retocolectomia total com reservatório ileal em "J" pelo Grupo de Coloproctologia da UNICAMP, sendo 10 doentes com RCUI e 10 com PAF. O grupo controle foi constituído por íleo terminal de intestino normal. Realizadas biópsias da mucosa do reservatório ileal e do íleo terminal normal, e congeladas em nitrogênio líquido. A expressão de TNF-alfa e IL-1beta foi analisada por extrato total e de NF-kB por meio de imunoprecipitado. A separação protéica foi feita por eletroforese em gel de poliacrilamida. RESULTADOS: Expressão de TNF-alfa e IL-1beta apresentaram níveis maiores nos doentes com RCUI, quando comparados àqueles com PAF (p0.1 e IL-1beta (p > 0.05 sem diferença estatística em relação aos demais grupos. CONCLUSÃO: Os doentes com RCUI apresentaram maiores níveis de expressão das citocinas estudadas, mesmo sem evidência clínica e endoscópica de ileíte do reservatório, podendo justificar maior suscetibilidade dos doentes com RCUI a esta complicação.Pouchitis after total retocolectomy is one of the most common complication of patients with ulcerative colitis (UC, while its frequency is quite rare in familial adenomatous polyposis (FAP. PURPOSE: To evaluate the inflammatory activity in endoscopicaly normal mucosa of the ileal pouch, by determining the expression of TNF-alpha and IL-1beta, and the activation of NF-kappaB. METHODS AND PATIENTS: Twenty patients with "J" pouch after total retocolectomy were studied, being 10 patients with UC and 10 with FAP. The control group was constituted by biopsies from terminal ileum take

  4. Narrow-band imaging for the detection of polyps in patients with serrated polyposis syndrome : a multicenter, randomized, back-to-back trial

    NARCIS (Netherlands)

    Hazewinkel, Yark; Tytgat, Kristien M. A. J.; van Leerdam, Monique E.; Koornstra, Jan-Jacob; Bastiaansen, Barbara A.; van Eeden, Susanne; Fockens, Paul; Dekker, Evelien

    Background: Serrated polyposis syndrome (SPS) is characterized by the presence of multiple serrated polyps spread throughout the colon. Patients with SPS are considered to be at risk of colorectal cancer and are advised to undergo endoscopic surveillance. Narrow-band imaging (NBI) may improve the

  5. Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

    NARCIS (Netherlands)

    Kets, M.; Krieken, J.H.J.M. van; Hebeda, K.M.; Wezenberg, S.J.; Goossens, M.; Brunner, H.G.; Ligtenberg, M.J.L.; Hoogerbrugge-van der Linden, N.

    2006-01-01

    Hereditary non-polyposis colorectal cancer (HNPCC) is caused by mutations in one of the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 and results in high-level microsatellite instability (MSI-high) in tumours of HNPCC patients. The MSI test is considered reliable for indicating mutations in MLH1

  6. Patient accuracy of reporting on hereditary non-polyposis colorectal cancer-related malignancy in family members

    DEFF Research Database (Denmark)

    Katballe, Niels; Juul, Svend; Christensen, M.

    2001-01-01

    BACKGROUND: The cancer family history is important in identifying individuals with hereditary non-polyposis colorectal cancer (HNPCC). The accuracy of a suspected HNPCC family history reported by patients with colorectal cancer was evaluated. METHODS: This was a prospective population-based study...... was rejected in three of 14 cases (false-positive rate 21 per cent). Furthermore, seven of 18 probands whose families met the Amsterdam criteria I or II after verification were identified by further exploration in families who, according to the probands, met weaker criteria (false-negative rate 39 per cent......). CONCLUSION: The present study suggests that family studies on HNPCC are not reliable unless the diagnoses of family members are verified from official sources. If endoscopic screening is offered entirely on the basis of unverified information from patients with colorectal cancer, there is a risk that a large...

  7. Streptococcus super antigen in polyp tissue of patients with nasal polyposis and chronic rhinosinusitis in comparison to normal population

    Directory of Open Access Journals (Sweden)

    Mohammad Farhadi

    2013-11-01

    Full Text Available Background: Nasal polyp (NP is a benign mucosal mass located in both sinuses and nares which is mostly seen in association with cystic fibrosis, asthma or oversensitivity to aspirin. The prominent histological feature of NP is inflammatory cell infiltration with eosinophil predominance. Superantigens role in causing NP complications is already proven. Superantigens, which are mostly originated from Streptococci and Staphylococci, activate T cells strongly and increase the process of production and release of cytokines, and secretion of IgE from B cells, which in turn directly affects proinflammatory cells such as eosinophils, both in their tissues infiltration and functions.Methods: The samples are collected from patients referring to ENT clinic in Rasoul Akram training Hospital in Tehran after thorough clinical and paraclinical examinations. For control group the samples collected from patients undergoing rhinoplasty. All the samples kept frozen and sent to immunology lab. The DNA of the excised tissues extracted and amplified by using the superantigens specific primers and PCR product detected by gel electrophoresis. The date analyzed by using mean and SD and χ2 analytical tools.  Results: Fifteen healthy individuals, 25 patients with rhinosinusitis and 24 with polyposis entered this trial. Group A Streptococcus toxin detection was significantly more frequent in those with nasal polyp and rhinosinusitis compared to healthy individuals (P=0.001 and 0.005, respectively, but the results were almost the same for those with nasal polyp and rhinosinusitis (P=0.4.Conclusion: Streptococci may play an important role in induction or clinical exacerbation of polyposis and group A Streptococcus pyogenes exotoxin (SPEs with superantigenic effects may have a crucial role in etiology and pathogenesis of polyps with or without rhinosinusitis. It is postulated that, T cells polyclonal activation by SPEs may cause recruitment of inflammatory cells in nasal

  8. Fungal Agents as a Cause of Nasal Polyposis

    Directory of Open Access Journals (Sweden)

    Mohammad Nejadkazem

    2015-01-01

    Full Text Available Introduction: Sinonasal polyposis is the most common tumor of nasal cavity and sinuses. Its complications are but not limited to sinusitis, breathing difficulties, hyposmia, anosmia and bone erosion. Methods and materials: A total of 98 patients with sinonasal polyposis were examined for suspicious causative fungal agent. Results: Direct microscopy and culture confirmed fungal agent in 8 patients (8.1% from which 3 cases had Alternaria spp, 1 patient Aspergillus spp, 1 patient Bipolaris spp, and 3 patients yeast. Conclusion: Fungi may be considered as a potential cause of sinonasal polyposis.   Keywords: Sinonasal Polyposis, Rhinosinusitis, Fungi

  9. Attenuated familial adenomatous polyposis (AFAP). A review of the literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Lyster; Bisgaard, Marie Luise; Bülow, Steffen

    2003-01-01

    with a few kindreds--and the diagnostic criteria and methods of investigation differ markedly. The true incidence and frequency of AFAP is not known. The mutations in APC associated with AFAP have mainly been detected in three parts of the gene: in the 5' end (the first five exons), in exon 9...... and in the distal 3' end. The main features of AFAP are 100 or less colorectal adenomas with a tendency to rectal sparing, a delay in onset of adenomatosis and bowel symptoms of 20-25 years, a delay in onset of colorectal cancer (CRC) of 10-20 years and death from CRC of 15-20 years, and although the lifetime...

  10. Recurrent gastrointestinal hemorrhage in treatment with dasatinib in a patient showing SMAD4 mutation with acute lymphoblastic leukemia Philadelphia positive and juvenile polyposis hereditary hemorrhagic telangiectasia syndrome

    Directory of Open Access Journals (Sweden)

    Chiara Sartor

    2013-07-01

    Full Text Available We report a case of a patient affected by juvenile polyposis and hereditary hemorrhagic telangiectasia linked to a SMAD4 mutation who developed acute lymphoblastic leukemia positive for the Philadelphia chromosome translocation and with a complex karyotype. During the treatment with the tyrosine kinase inhibitor dasatinib the patient presented recurrent severe gastrointestinal hemorrhages linked to the genetic background and aggravated by thrombocytopenia.

  11. Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.

    Science.gov (United States)

    Chew, Min Hoe; Tan, Wah Siew; Liu, Yanqun; Cheah, Peh Yean; Loi, Carol Tt; Tang, Choong Leong

    2015-08-01

    The Singapore Polyposis Registry (SPR) was established in 1989 in Singapore General Hospital (SGH). The aims were to provide a central registry service to facilitate identification, surveillance and management of families and individuals at high risk of colorectal cancer. This is a review of published literature in the department. The registry currently has 253 families with several genetic conditions-93 familial adenomatous polyposis (FAP) families, 138 Amsterdam-criteria positive presumed Lynch syndrome (LS) families, 12 families with Peutz Jeghers syndrome, 2 families with Cowden's syndrome, and 8 families with hereditary mixed polyposis syndrome (HMPS). There are also 169 families with a strong family history of colorectal cancer but no abnormal genes yet identified. In FAP, a diagnostic tool developed has allowed a 94% local APC germline detection rate in FAP families. Knowledge obtained studying the phenotype of FAP patients has allowed better choice of surgery between ileal pouch anal anastomosis (IPAA) against an ileal-rectal anastomosis (IRA). In LS, our review has noted a highly heterogenous mutational spectrum and novel variants made up 46.7% (28/60) of all variants identified in this cohort. This may suggest that our Southeast Asian ethnic groups have distinct mutational variants from Western populations. Pathogenic mutations were only confined to MLH1 and MSH2, and identified in 28.8% of families. The impact of predictive gene testing for hereditary cancer risk in clinical practice has allowed evolution of care. Risk-reducing surgery and aggressive surveillance allows reduction in morbidity and mortality of patients. The SPR will continue to grow and improve outcomes in hereditary colorectal cancer patients and families.

  12. Multiple lymphomatous polyposis of the intestinal tract

    Energy Technology Data Exchange (ETDEWEB)

    Ranner, G.; Ebner, F.; Lehnert, M.; Becker, H.

    1987-04-01

    The authors report on a patient suffering from centrocytic non-Hodgkin's lymphoma. Double contrast examination of the colon showed multiple, partially pedunculated polyps in the terminal ileum and colon. As cause of these lesions involvement of the bowel by lymphoma could be proved by biopsy. The differential diagnosis against other types of polyposis is discussed and the variable radiographical manifestations of the disease known as 'multiple lymphomatous polyposis' are pointed out.

  13. How does measured olfactory function correlate with self-ratings of the sense of smell in patients with nasal polyposis?

    Science.gov (United States)

    Nguyen, Duc Trung; Nguyen-Thi, Phi-Linh; Jankowski, Roger

    2012-05-01

    The objectives of this study were to investigate correlations, before and after surgery, between olfactory function self-ratings and measurements, and self-ratings of nasal obstruction and smell; and to establish cutoff points of self-rating scores for smell reduction in patients with nasal polyposis (NP). Prospective study. A total of 80 patients with NP (36 women, 44 men; aged 49 ± 4 years) were enrolled. Self-ratings (0- to 10-point scale) and measurements of olfactory function with standardized Sniffin' Sticks odor threshold and identification tests were assessed 1 day before surgery, and at 6 weeks (26-78 days) and 7 months (132-318 days) after surgery. Relationships were studied with Spearman correlation coefficients. Cutoff points of self-rating scores for olfactory deficit were established using the receiver operating characteristic curve. Overall, olfactory function self-ratings and measurements correlated strongly preoperatively (r = -0.66, P smell were not correlated when two complaints were dissociated. Cutoff points of self-rating scores for smell reduction were nine units preoperatively and five units postoperatively. Self-ratings and measurements of olfactory function correlated well before and after surgery in NP patients with olfactory deficits. Self-ratings were not reliable pre- and postoperatively in normosmic patients. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

  14. Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

    Science.gov (United States)

    Devlin, Lisa A; Graham, Colin A; Price, John H; Morrison, Patrick J

    2008-01-01

    To determine and compare the prevalence of MSH6 (a mismatch repair gene) mutations in a cohort of families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), and in an unselected cohort of endometrial cancer patients (EC). Two patient cohorts participated in the study. A cohort of HNPCC families who were known to the Regional Medical Genetics department, and an unselected cohort of patients with a history of EC. All participants received genetic counselling on the implications of molecular testing, and blood was taken for DNA extraction with consent. All samples underwent sequencing and Multiple Ligation probe analysis (MLPA) for mutations in MSH6. DNA from one hundred and forty-three probands from HNPCC families and 125 patients with EC were included in the study. Molecular analysis of DNA in all participants from both cohorts for mutations in MSH6. Prevalence of pathogenic mutations in MSH6. A truncating mutation in MSH6 was identified in 3.8% (95% CI 1.0-9.5%) of patients in the endometrial cancer cohort, and 2.6% (95% CI 0.5-7.4%) of patients in the HNPCC cohort. A missense mutation was identified in 2.9% and 4.4% of the same cohorts respectively. No genomic rearrangements in MSH6 were identified. MSH6 mutations are more common in EC patients than HNPCC families. Genomic rearrangements do not contribute to a significant proportion of mutations in MSH6, but missense variants are relatively common and their pathogenicity can be uncertain. HNPCC families may be ascertained through an individual presenting with EC, and recognition of these families is important so that appropriate cancer surveillance can be put in place.

  15. Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients.

    Science.gov (United States)

    Lee, Jasmine; Xiao, Yin-Yi; Sun, Yan Yu; Balderacchi, Jasminka; Clark, Bradley; Desani, Jatin; Kumar, Vivek; Saverimuthu, Angela; Win, Khin Than; Huang, Yiwu; Xu, Yiqing

    2017-12-13

    The prevalence of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is 2 to 5% in the Caucasian population. HNPCC is caused by genomic mutations in DNA mismatch repair genes (MMR), namely MLH1, MSH2, MSH6, PMS2, and EPCAM. A non-hereditary, acquired process of hypermethylation of the MLH1 promoter can also lead to silencing of MLH1 protein expression. Diagnosis of HNPCC in patients with colorectal and other related cancers is important in the clinical treatment and surveillance of related cancers. The prevalence and clinical characteristics of HNPCC in Asian colorectal cancer patients has been reported in small studies and unique features have been suggested. We retrospectively reviewed the clinical characteristics of Asian patients who were diagnosed of colon cancer between 1/2002 and 6/2015, and performed IHC for four MMR protein expressions on tumor specimens as a screening test for HNPCC, followed by confirmatory tests of genomic sequencing and hypermethylation analysis. One hundred forty-three patients were identified. Thirty-one patients were diagnosed younger than 50 years old, while 112 patients were diagnosed older than 50 years old. Six cases of HNPCC were found with a prevalence of 4.19%. The prevalence in the group of patients diagnosed younger than 50 years old is 16.1%, and that in patients diagnosed older than 50 years old is 0.89%. All patients with HNPCC had family histories of colon or gastric cancer. Tumor locations in the HNPCC patients were predominantly in the descending or sigmoid colon (67%). Half of the HNPCC patients had MSH6 mutations. Hypermethylation of the MLH1 gene was only present in 2.80% of the patients. The prevalence of HNPCC is high in patients younger than 50 years old and extremely low in those older than 50 years old. These results may be useful in the future development of guidelines for HNPCC laboratory screening among Asian patients. The pathological and clinical features of HNPCC in this group of Asian immigrant

  16. Juvenile polyposis syndrome

    OpenAIRE

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male...

  17. Safe treatment of ethmoid sinusitis utilizing minimally invasive ethmoid punch sinusotomy in chronic rhinosinusitis without polyposis patients.

    Science.gov (United States)

    Velasquez, Nathalia; Thamboo, Andrew; Abuzeid, Waleed M; Nayak, Jayakar V

    2017-06-01

    Current rhinologic practice is devoid of minimally invasive procedures dedicated to the treatment of ethmoid sinusitis to improve ventilation and topical drug delivery. We have recently described a handheld spiral punch to create minimally invasive ethmoid punch sinusotomy (EPS) sites into the ethmoid bulla and basal lamella, which significantly increased irrigant access to the ethmoid sinuses in cadaver models. Here, we conducted a clinical feasibility study to determine the initial safety evaluation of EPS in chronic rhinosinusitis without polyposis (CRSsNP) patients with active ethmoid disease. Single-arm, institutional review board-approved observational study. This study was performed in CRSsNP patients who failed medical management; were candidates for standard, traditional functional endoscopic sinus surgery; and were offered the option of EPS. EPS characteristics (patency, remucosalization) and complications (closure, mucus recirculation) were collected. Alterations in radiographic disease and symptoms after EPS were determined by Lund Mackay (LM) scoring and 22-item Sinonasal Outcome Test (SNOT-22) scoring, which was collected up to 6 months post-procedure. Thirty-two of 40 possible ethmoid compartments (17 of 20 anterior, 15 of 20 posterior) underwent EPS. Twenty-nine of 32 EPS sites remained patent (n = 29, 90.6%), with a minority displaying evidence of restenosis (n = 9, 28.1%) or closure (n = 3, 9.3%). All patent EPS sites had complete remucosalization (n = 29, 100%) with no evidence of mucus recirculation (n = 0, 0%) or other complications secondary to healing or device use. Ethmoid sinus cavities with a pre-EPS LM score of 1 or 2 universally improved to an LM score of 0 following EPS (n = 30 of 30, 100%). SNOT-22 scores significantly improved, with a mean reduction of 33.1 (49.6 ± 7.5 pre-EPS vs 16.5 ± 7.7 post-EPS, p sinusitis in CRSsNP patients unresponsive to medical therapy that establishes ethmoid ventilation, and likely improves effective

  18. Growth hormone and prolactin responses to corticotrophin-releasing-hormone in patients with Cushing's disease: a paracrine action of the adenomatous corticotrophic cells?

    Science.gov (United States)

    Loli, P; Boccardi, E; Branca, V; Bramerio, M; Barberis, M; Losa, M; Terreni, M T; Lodrini, S; Pollo, B; Vignati, F

    1998-10-01

    In patients with Cushing's disease multihormonal responses to ovine corticotrophin releasing hormone (oCRH) have been detected in blood from inferior petrosal sinuses. This finding has been explained by co-secretion of other hormones, in addition to ACTH, by the pituitary adenoma itself or by paracrine effects exerted by the adenoma on normal periadenomatous pituitary cells. To assess these hypotheses we compared the presence of a CRH induced GH and/or PRL response during inferior petrosal sinus sampling to the immunohistochemical detection of PRL and GH in adenomatous tissue removed from patients with Cushing's disease. Twenty-two patients with Cushing's disease and two patients with ectopic ACTH syndrome due to a bronchial carcinoid were studied; each patient had undergone preoperative inferior petrosal sinus sampling for diagnostic purposes with determination of GH and PRL in addition to ACTH, before and after administration of oCRH. Immunohistochemical studies for ACTH, GH and PRL detection were carried out on adenomatous tissue removed at surgery in the patients with pituitary dependent Cushing's disease and on the carcinoid tumours from the two patients with ectopic ACTH syndrome. All pituitary adenomas immunostained for ACTH, and four adenomas immunostained for GH or PRL in addition to ACTH. A PRL increase in the inferior petrosal sinus after oCRH administration was found in 11 of 22 patients, but none of their tumours immunostained for PRL. Immunostaining for PRL was found in the pituitary tumours from two patients but in neither patient was there a PRL response after oCRH. A GH response was found in 13 of 20 patients in whom it was sought; no patient showed immunostaining in their tumour. GH immunostaining was found in two tumours but in neither patient was there a GH response after oCRH. The oCRH-induced increase of GH and PRL was always recorded in the dominant inferior petrosal sinus. The ACTH response to oCRH was significantly higher in patients who

  19. Platelet Count and Mean Platelet Volume in Patients with Nasal Polyposis

    Directory of Open Access Journals (Sweden)

    Asli Tanrivermis Sayit

    2014-12-01

    Full Text Available Aim: Nasal polyps (NPs are the most common reason for nasal obstruction, with a prevalence of 1-4%. Although the etiology is not clearly known, chronic infections and mechanical, immunological, and biochemical factors can play a role in the etiology. Recently, mean platelet volume (MPV was recognized as a simple inflammatory marker in the inflammatory disease. In this study, we aimed to evaluate platelet (PLT and MPV in patients with NPs. Material and Method: This study included 80 histopathologically proven patients with NPs and 80 age- and sex-matched healthy subjects as controls. The Lund-Mackay staging system was used to evalute paranasal sinus CT scans, in patients with NPs, and paranasal sinus CT scores were recorded. Values of MPV, platelet (PLT, platelet crit (PCT and platelet distribution width (PDW were assessed in NP and control groups. Results: MPV and PLT values were found to be low in patients with NPs, at 8.57±1.62 fL and 259.99±62.03 x103/µL, respectively, compared with the control groups, at 8.79±1.49fL and 270.29±61.82 x103/µL. These findings were not statistically significant. PDW values were found to be slightly high in patients with NPs, at 17.1±1.36 fL, compared with the control group, at 16.78±1.04 fL (p=0.075. But PCT values were found to be low in patients with NPs, at 0.21±0.065, compared with the control group, at 0.23±0.069 (p=0.044. This finding was statistically significant. Discussion: In our study, the MPV and PLT values were lower in patients with NPs, but the difference was not statistically significant. According to our findings, the use of MPV as an inflammation marker in patients with NPs does not seem to be reliable.

  20. Chromosome number distribution and cellular DNA content in colorectal adenomas from polyposis and nonpolyposis patients

    DEFF Research Database (Denmark)

    Petersen, S E; Madsen, A L; Bak, Martin

    1991-01-01

    Ploidy analyses of colorectal adenomas were performed by combined flow cytometric DNA analysis of unfixed isolated nuclei and direct chromosome preparation after Colcemid incubation for 9-20 hours. Ten of 18 adenomas from nonpolyposis patients and 4 of 13 adenomas from patients with familial...... and a correspondingly increased nuclear DNA content. In another two adenomas, the DNA analyses showed small hyperploid populations constituting 6% and 2% of the cells. The most striking difference between the DNA analyses and chromosome number distributions was that 13% of all metaphases were hyperploid with chromosome...... numbers outside the perimodal range but, except in one adenoma, without indication in the DNA histogram of corresponding hyperploid cell populations. We propose that these aberrant metaphases indicate an early acquired genetic instability of the neoplastic epithelium, which may be instrumental...

  1. Glycoprotein expression by adenomatous polyps of the colon

    Science.gov (United States)

    Roney, Celeste A.; Xie, Jianwu; Xu, Biying; Jabour, Paul; Griffiths, Gary; Summers, Ronald M.

    2008-03-01

    Colon cancer is the second leading cause of cancer related deaths in the United States. Specificity in diagnostic imaging for detecting colorectal adenomas, which have a propensity towards malignancy, is desired. Adenomatous polyp specimens of the colon were obtained from the mouse model of colorectal cancer called adenomatous polyposis coli-multiple intestinal neoplasia (APC Min). Histological evaluation, by the legume protein Ulex europaeus agglutinin I (UEA-1), determined expression of the glycoprotein α-L-fucose. FITC-labelled UEA-1 confirmed overexpression of the glycoprotein by the polyps on fluorescence microscopy in 17/17 cases, of which 13/17 included paraffin-fixed mouse polyp specimens. In addition, FITC-UEA-1 ex vivo multispectral optical imaging of 4/17 colonic specimens displayed over-expression of the glycoprotein by the polyps, as compared to non-neoplastic mucosa. Here, we report the surface expression of α-L-fucosyl terminal residues by neoplastic mucosal cells of APC specimens of the mouse. Glycoprotein expression was validated by the carbohydrate binding protein UEA-1. Future applications of this method are the development of agents used to diagnose cancers by biomedical imaging modalities, including computed tomographic colonography (CTC). UEA-1 targeting to colonic adenomas may provide a new avenue for the diagnosis of colorectal carcinoma by CT imaging.

  2. Salicylate Food Intolerance and Aspirin Hypersensitivity in Nasal Polyposis

    National Research Council Canada - National Science Library

    Hossein Esmaeilzedeh; Elmira Esmaeilzadeh; Mohammad Faramarzi; Mohammad Nabavi; Mohammad Farhadi

    2017-01-01

    Background: A clear association between allergy and nasal polyposis (NP) is not determined and the role of food intolerance in patients with NP is not investigated by oral food challenge (OFC). Objective...

  3. Quality of Life in Patients with Chronic Rhinosinusitis with Nasal Polyposis Before and After Functional Endoscopic Sinus Surgery: A Study Based on SINO-NASAL OUTCOME TEST

    Directory of Open Access Journals (Sweden)

    Mehrnoosh Musavi Aghdas

    2018-02-01

    Full Text Available Background: Chronic rhinosinusitis is one of the most common diseases in the world. The high prevalence and chronicity of disease increasing burden of disease. Burden of this disease, productivity and the quality of life of patients decreased. The aim of this study was to evaluate the effect of endoscopic sinus surgery on the quality of life of patients with chronic rhinosinusitis with nasal polyposis. Method: This prospective study was performed on 59 patients suffering chronic rhinosinusitis with nasal polyposis referring to ENT clinic of educational hospital of Tabriz University of medical sciences during 2015 to 2017. These patients underwent Endoscopic Sinus Surgery as treatment. For all patients, SINO-NASAL OUTCOME (TEST (SNOT-22 was completed before and twelve months after surgery. Results:  Fifty-nine patients were enrolled in this study. 21 were female (35.6% and 38 were male (64.40%. The mean age of the studied population was 40.88 ± 16.11 years. The mean score of the preoperative score was 59.38 ± 5.84 and the mean score of the postoperative score was 24.01 ± 10.48. The results of the statistical analysis showed that endoscopic surgery reduced The SNOT-22 questionnaire score is significant. (P < 0.000. The results of the test showed that the increase in preoperative score increases the gain after surgery. (Spearman correlation coefficient: 0.419 and P: 0.001 Conclusion: Endoscopic sinus surgery seems to improve the symptoms and quality of Life in patients with chronic rhinosinusitis.

  4. Circulating gastrin concentrations in patients at increased risk of developing colorectal carcinoma.

    Science.gov (United States)

    Paterson, Adrienne C; Macrae, Finlay A; Pizzey, Cathy; Baldwin, Graham S; Shulkes, Arthur

    2014-03-01

    An increase in circulating concentrations of gastrin or gastrin precursors such as progastrin and glycine-extended gastrin has been proposed to promote the development of colorectal carcinomas (CRC). The aim of this study was to investigate whether or not circulating gastrin concentrations were increased in patients with an increased risk of developing CRC. Patients were divided according to their risk into the five following groups: familial adenomatous polyposis (n = 20), hereditary non-polyposis colorectal cancer (n = 53), cluster of common colorectal cancers (n = 13), personal history and/or family history of adenomatous polyps or CRC (n = 150) and controls (n = 42). Radioimmunoassay with four region-specific gastrin antisera was used to measure progastrin, glycine-extended gastrin (gastrin-gly), amidated gastrin (gastrin-amide), and total gastrin in peripheral blood taken at the time of colonoscopy. Compared with the control group, familial adenomatous polyposis patients had significantly higher median values of total gastrin (29.8 pM vs 16.9 pM, P = 0.003) and gastrin-amide (17.1 pM vs 12.0 pM, P = 0.015). Patients with a personal or family history of adenomatous polyps or CRC also had higher circulating concentrations of total gastrin (21.8 pM) compared with controls (P gastrin, progastrin, and gastrin-amide than patients without polyps. Concentrations of gastrin precursors are increased in particular groups with an increased risk of developing CRC.

  5. Survival of patients with Stage III colon cancer is improved in hereditary non-polyposis colorectal cancer compared with sporadic cases. A Danish registry based study.

    Science.gov (United States)

    Brixen, L M; Bernstein, I T; Bülow, S; Ehrnrooth, E

    2013-07-01

    Patients with hereditary non-polyposis colorectal cancer (HNPCC) seem to have a better prognosis than those with sporadic colorectal cancer (CRC). The aim was to compare survival after Stage III CC in patients with HNPCC with those having sporadic CC. A total of 230 patients with hereditary cancer from the Danish HNPCC Register and 3557 patients with sporadic CC from the Danish Colorectal Cancer Database, diagnosed during May 2001-December 2008, were included. HNPCC patients were classified according to mismatch repair mutation status and family pedigree. Sporadic cases had no known family history of cancer. Patient characteristics, geographical differences and survival data were analysed. The overall survival (OS) was better in HNPCC patients compared with sporadic CC after stratification for sex and age (P = 0.02; CI 1.04-1.7). The 5-year survival was 70% in HNPCC patients compared with 56% in sporadic CC (P < 0.001). No survival difference was found between HNPCC subgroups but a tendency to better OS was seen in patients with Lynch syndrome. No geographical differences in OS were found. The median follow-up was 3.9 (0-9.5) years for HNPCC vs 3.2 (0-9.6) years for sporadic CC. HNPCC patients with Stage III CC have a better OS compared with sporadic CC. No significant difference in OS was found within HNPCC subgroups. Colorectal Disease © 2013 The Association of Coloproctology of Great Britain and Ireland.

  6. Multidetector CT diagnosis of massive hemobilia due to gallbladder polyposis in a child with metachromatic leukodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Wanner, Matthew R.; Karmazyn, Boaz [Indiana University School of Medicine, Riley Hospital for Children, Department of Radiology and Imaging Sciences, Indianapolis, IN (United States); Fan, Rong [Indiana University School of Medicine, Riley Hospital for Children, Department of Pathology and Laboratory Medicine, Indianapolis, IN (United States)

    2015-12-15

    Hemobilia secondary to gallbladder polyposis is rare in children but has been reported in a few children with metachromatic leukodystrophy. We present a case with preoperative multidetector computed tomography (MDCT) diagnosis of massive hemobilia caused by gallbladder polyposis in a patient with metachromatic leukodystrophy. Our report highlights the importance of both awareness of the association of gallbladder polyposis with other syndromes such as metachromatic leukodystrophy as well as the possibility of this entity presenting with life-threatening bleeding. (orig.)

  7. Repurposing the FDA-approved pinworm drug pyrvinium as a novel chemotherapeutic agent for intestinal polyposis.

    Directory of Open Access Journals (Sweden)

    Bin Li

    Full Text Available Mutations in the WNT-pathway regulator ADENOMATOUS POLYPOSIS COLI (APC promote aberrant activation of the WNT pathway that is responsible for APC-associated diseases such as Familial Adenomatous Polyposis (FAP and 85% of spontaneous colorectal cancers (CRC. FAP is characterized by multiple intestinal adenomas, which inexorably result in CRC. Surprisingly, given their common occurrence, there are few effective chemotherapeutic drugs for FAP. Here we show that the FDA-approved, anti-helminthic drug Pyrvinium attenuates the growth of WNT-dependent CRC cells and does so via activation of CK1α. Furthermore, we show that Pyrvinium can function as an in vivo inhibitor of WNT-signaling and polyposis in a mouse model of FAP: APCmin mice. Oral administration of Pyrvinium, a CK1α agonist, attenuated the levels of WNT-driven biomarkers and inhibited adenoma formation in APCmin mice. Considering its well-documented safe use for treating enterobiasis in humans, our findings suggest that Pyrvinium could be repurposed for the clinical treatment of APC-associated polyposes.

  8. Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.

    Science.gov (United States)

    Aceto, Gitana Maria; Fantini, Fabiana; De Iure, Sabrina; Di Nicola, Marta; Palka, Giandomenico; Valanzano, Rosa; Di Gregorio, Patrizia; Stigliano, Vittoria; Genuardi, Maurizio; Battista, Pasquale; Cama, Alessandro; Curia, Maria Cristina

    2015-10-28

    Transcript dosage imbalance may influence the transcriptome. To gain insight into the role of altered gene expression in hereditary colorectal polyposis predisposition, in the present study we analyzed absolute and allele-specific expression (ASE) of adenomatous polyposis coli (APC) and mutY Homolog (MUTYH) genes. We analyzed DNA and RNA extracted from peripheral blood mononuclear cells (PBMC) of 49 familial polyposis patients and 42 healthy blood donors selected according similar gender and age. Patients were studied for germline alterations in both genes using dHPLC, MLPA and automated sequencing. APC and MUTYH mRNA expression levels were investigated by quantitative Real-Time PCR (qRT-PCR) analysis using TaqMan assay and by ASE assays using dHPLC-based primer extension. Twenty out of 49 patients showed germline mutations: 14 in APC gene and six in MUTYH gene. Twenty-nine patients did not show mutations in both genes. Results from qRT-PCR indicated that gene expression of both APC and MUTYH was reduced in patients analyzed. In particular, a significant reduction in APC expression was observed in patients without APC germline mutation vs control group (P mutation carrier patients, although lower compared to control individuals, did not show statistical significance. On the other hand a significant reduced MUTYH expression was detected in patients with MUTYH mutations vs control group (P mutation carriers. In particular one case showed a complete loss of one allele. Among APC mutation negative cases, 4 out of 13 showed a moderate ASE. ASE of MUTYH did not show any altered expression in the cases analyzed. Spearman's Rho Test analysis showed a positive and significant correlation between APC and MUTYH genes both in cases and in controls (P = 0.020 and P gene mutation. Expression of APC is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition, while for MUTYH gene, mutation is associated to reduced m

  9. Resolution of Fundic Gland Polyposis following Laparoscopic Magnetic Sphincter Augmentation and Subsequent Cessation of Proton Pump Inhibitors

    Directory of Open Access Journals (Sweden)

    Joel R. Brockmeyer

    2015-01-01

    Full Text Available Gastric polyps occur from a variety of sources and are found commonly on upper endoscopy. We present the case of a 49-year-old female who presented for evaluation for antireflux surgery with a history of fundic gland polyposis who required twice-daily proton pump inhibitors (PPIs for control of her gastric reflux. After verifying that she met criteria for surgery, she underwent an uncomplicated laparoscopic magnetic sphincter augmentation placement. With the cessation of PPIs following surgery, the fundic gland polyposis resolved. Fundic gland polyps may occur sporadically or within certain syndromes, such as familial adenomatous polyposis. Multiple possible inciting factors exist, including the use of PPIs. This is the first reported case of the resolution of numerous fundic gland polyps following the completion of laparoscopic magnetic sphincter augmentation.

  10. Efficacy of ESS in chronic rhinosinusitis with and without nasal polyposis

    DEFF Research Database (Denmark)

    Lind, Henrik; Joergensen, G.; Lange, Bibi

    2016-01-01

    Endoscopic sinus surgery (ESS) for patients with severe chronic rhinosinusitis (CRS) has become a well-established treatment in cases where medical therapy fails. Even though CRS patients are divided into two subgroups, CRS with nasal polyposis (CRSwNP) and CRS without nasal polyposis (CRSs...

  11. Prophylactic colectomy for hyperplastic polyposis.

    LENUS (Irish Health Repository)

    Doran, D

    2011-03-01

    Hyperplastic polyposis (HP) is important to recognise as it increases the risk of adenomata which may develop dysplastic change or frank adenocarcinoma. We present the case of a 58-year-old woman with HP.

  12. Ophthalmoscopy for congenital hypertrophy of the retinal pigment epithelium (CHRPE) in patients with sporadic colorectal carcinoma

    DEFF Research Database (Denmark)

    Hartvigsen, A; Myrhøj, T; Bülow, Steffen

    1995-01-01

    In order to investigate the frequency of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in sporadic colorectal cancer, ophthalmoscopy was carried out in 34 patients with colorectal carcinoma without known familial disposition. CHRPE is one of the most frequent extracolonic...... manifestations in familial adenomatous polyposis. None of the patients showed any sign of CHRPE. It is concluded that although genetic factors are presumably of importance in the development of sporadic colorectal cancer, CHRPE cannot be used as a marker for future risk of colorectal carcinoma except...

  13. Prosthodontic management of a patient with Gardner′s syndrome: A clinical case report

    Directory of Open Access Journals (Sweden)

    Kunwarjeet Singh

    2014-01-01

    Full Text Available Gardner′s syndrome is a genetic condition demonstrating an autosomal dominant trait and characterized by the multiple colonic polyps (familial adenomatous polyposis coli with sebaceous cysts and jaw osteomas. Various dental abnormalities present in patient′s suffering with this syndrome includes multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes and dentigerous cyst. In this case report, a patient with Gardner′s syndrome who suffered from functional and psychological problems owing to multiple impacted, unerupted teeth and hypodontia was presented. Patient was treated with a maxillary conventional overdenture opposing mandibular custom bar supported overdentures.

  14. [Sinonasal polyposis associated with a deficiency subclass immunoglobulin G: Place of substitution immunoglobulins].

    Science.gov (United States)

    Hoan, Nhung Tran Khai; Karmochkine, M; Laccourreye, O; Bonfils, P

    2014-01-01

    To study the effect of the introduction of a substitution by intravenous Immunoglobulins (Ig IV) at patients with immunoglobulins G (IgG) subclasses deficiency and nasal polyposis. Prospective study concerning five patients with IgG subclasses deficiency and nasal polyposis treated by Ig IV. Rhinologic, otologic and pulmonary symptoms, exacerbations of nasal polyposis, chronic otitis and asthma as well as the number of antibiotics and corticoids treatments were counted during the Ig IV substitution. To study the association between IgIV substitution and the number of exacerbations of nasal polyposis, chronic otitis, asthma and the number of antibiotics and corticoids treatments in patients with IgG subclasses deficiency and nasal polyposis. Five patients with a IgG subclass deficiency and nasal polyposis were substituted. The number of antibiotics and corticoids cures increased at one patient and remained stable at four others. The number of sinus, ear and lung infections as well as the global rhinologic score of symptoms and the endoscopic stage of the nasal polyposis remained stable. In the absence of efficiency of the treatment, this one was interrupted at the end of 6 months for patients n° 1 and n° 3, 24 months for patient n° 4 and 42 months for patient n° 5. The current study failed to highlight clinical improvement in patients wih IgG subclasses deficiency and nasal polyposis treated by Ig IV. A previous study had not allowed to find a link between IgG subclasses deficiency and severity of nasal polyposis, what seems to be confirmed by the absence of improvement brought during the substitution of this deficit in the current study.

  15. Serrated Polyposis: An Enigmatic Model of Colorectal Cancer Predisposition

    Science.gov (United States)

    Rosty, Christophe; Parry, Susan; Young, Joanne P.

    2011-01-01

    Serrated polyposis has only recently been accepted as a condition which carries an increased personal and familial risk of colorectal cancer. Described over four decades ago, it remains one of the most underrecognized and poorly understood of all the intestinal polyposes. With a variety of phenotypic presentations, it is likely that serrated polyposis represents a group of diseases rather than a single entity. Further, neoplastic progression in serrated polyposis may be associated with premature aging in the normal mucosa, typified by widespread gene promoter hypermethylation. From this epigenetically altered field, arise diverse polyps and cancers which show a range of molecular features. Despite a high serrated polyp count, only one-third of colorectal cancers demonstrate a BRAF V600E mutation, the molecular hallmark of the canonical serrated pathway, suggesting that though multiple serrated polyps act as a marker of an abnormal mucosa, the majority of CRC in these patients arise within lesions other than BRAF-mutated serrated polyps. PMID:21660283

  16. Clinical predictors for sessile serrated polyposis syndrome: A case control study.

    Science.gov (United States)

    Wu, Yang; Mullin, Alexander; Stoita, Alina

    2017-09-16

    To compared individuals with serrated polyposis syndrome (SPS) to those with sessile serrated adenoma (SSA) and adenomas in the setting of endoscopists with high adenoma detection rates at a secondary and tertiary academic centre. Retrospectively we collated the clinical, endoscopic and histological features of all patients with SPS at St Vincent's public and private hospital in the last 3 years. Patients were identified by searching through 2 pathology databases. Variables explored included smoking status, symptoms, and family history of concurrent colorectal cancer, number and location of polyps. Patients with SPS were matched to two cohorts (1) patients with SSA not meeting World Health Organization (WHO) criteria for SPS over 3 years; and (2) patients with exclusively adenomas. The control cases were also matched according to gender and endoscopist. Adenoma detection rates ranged from 25% to 40%. Forty patients with SPS were identified and matched with 40 patients in each control group. In total 15452 colonoscopies were performed over the study period which amounts to a prevalence of 1: 384 patients (0.26%) with SPS. Fourteen patients (35%) required more than 1 year to accumulate enough polyps to reach WHO criteria for SPS. The diagnosis of SPS was largely incidental and 5% SPS patients were diagnosed with colorectal cancer over 3 years. The chance of detecting a meta-synchronous adenoma was similar in those with SPS (42%) and those with SSA (55%), P = 0.49. The majority of patients (75%) meeting criteria for SPS were women. The mean age of those with SPS (45 years) was significantly lower than both cohorts with SSA (57 years) and adenomas (63 years), P = 0.01. On univariate analysis cigarette exposure, first-degree family history of colorectal cancer and a high BMI weren't significantly more associated with SPS compared to patients with SSA or patients with adenomas. However, patients with SPS (97%) and patients with SSAs not meeting SPS criteria (98%) were

  17. Frequency of Nasal Polyposis in Chronic Rhinosinusitis and Role of Endoscopic Examination in Correct Diagnosis

    Directory of Open Access Journals (Sweden)

    F. Hashemian

    2005-10-01

    Full Text Available Introduction & Objective : Chronic rhinosinusitis (C.R.S. is one of the most common diseases in the world. Polyposis is a complication of C.R.S., due to allergy or inflammation. The purpose of this study was detection of the incidence of polyposis in patients with C.R.S. Materials & Methods : This study was carried out on 192 patients with C.R.S. who underwent functional endoscopic sinus surgery during 2000-2003 in Hamadan. All patients with C.R.S symptoms referred to ENT clinics were examined by otolaryngologist and after establishing diagnosis of C.R.S. they received medical treatment and after nose and para nasal sinuses CT scan, if there was indication, FESS was done. The patients who had polyps were followed up to one year, and the results analyzed with SPSS. Results : According to the results, incidence of polyposis in 192 patients with C.R.S. was 40%, the sex distribution of the patients with polyposis was 60% in male and 40% in female. The age mean was 39.2 year. Involved sinuses in decreasing order of frequency was, anterior ethmoid , maxilla, Posterior ethmaid, sphenoid, sphenoid and frontal. 43% of the patients had history of allergy. Recurrence happened in 6.6% after one year follow up.Conclusion : Because of disabling symptoms and severe complications of nasal polyposis, it is recommended more study in the future to find etiology and preventive ways for nasal polyposis in Hamadan.

  18. Lymphoid Polyposis in an Adult Male- A Case Report

    Directory of Open Access Journals (Sweden)

    Shamina Islam

    2011-09-01

    Full Text Available Benign lymphoid polyposis is a rare histologic entity and should not be confused with malignant disease of the colon and rectum. We present a case of lymphoid polyposis in the intestine in a 26 years old male patient who was admitted for the treatment of faecal fistula. He had history of appendectomy, followed by ileostomy four years back. Physical examination revealed multiple faecal fistulae in the right lower abdomen. Right-sided hemicolectomy was done. Gross examination showed multiple polyps through out the specimen; the junction between caecum and ascending colon was found partially stenosed. Microscopy revealed polypoid structures consisting of multiple lymphoid follicles with prominent germinal centers. A stenosed area represented probable fistulous tract within the fibrosis. The final diagnosis was lymphoid polyposis based on clinical, gross and microscopic features. Keywords: Lymphoid polyposis; Faecal fistula. DOI: http://dx.doi.org/10.3329/bsmmuj.v4i2.8643 BSMMU J 2011; 4(2:119-121

  19. Rh-I-UEA-1 Polymerized Liposomes Target and Image Adenomatous Polyps in the APCMin/+ Mouse Using Optical Colonography

    Directory of Open Access Journals (Sweden)

    Celeste A. Roney

    2011-07-01

    Full Text Available Mutated adenomatous polyposis coli (APC genes predispose transformations to neoplasia, progressing to colorectal carcinoma. Early detection facilitates clinical management and therapy. Novel lectin-mediated polymerized targeted liposomes (Rh-I-UEA-1, with polyp specificity and incorporated imaging agents were fabricated to locate and image adenomatous polyps in APCMin/+ mice. The biomarker α-l-fucose covalently joins the liposomal conjugated lectin Ulex europaeus agglutinin (UEA-1, via glycosidic linkage to the polyp mucin layer. Multispectral optical imaging (MSI corroborated a global perspective of specific binding (rhodamine B 532 nm emission, 590–620 nm excitation of targeted Rh-I-UEA-1 polymerized liposomes to polyps with 1.4-fold labeling efficiency. High-resolution coregistered optical coherence tomography (OCT and fluorescence molecular imaging (FMI reveal the spatial correlation of contrast distribution and tissue morphology. Freshly excised APCMin bowels were incubated with targeted liposomes (UEA-1 lectin, control liposomes (no lectin, or iohexol (Omnipaque and imaged by the three techniques. Computed tomographic quantitative analyses did not confirm that targeted liposomes more strongly bound polyps than nontargeted liposomes or iohexol (Omnipaque alone. OCT, with anatomic depth capabilities, along with the coregistered FMI, substantiated Rh-I-UEA-1 liposome binding along the mucinous polyp surface. UEA-1 lectin denotes α-l-fucose biomarker carbohydrate expression at the mucin glycoprotein layer; Rh-I-UEA-1 polymerized liposomes target and image adenomatous polyps in APCMin mice.

  20. Rh-I-UEA-1 polymerized liposomes target and image adenomatous polyps in the APCMin/+ mouse using optical colonography

    Science.gov (United States)

    Roney, Celeste A.; Xu, Biying; Xie, Jianwu; Yuan, Shuai; Wierwille, Jeremiah; Chen, Chao-Wei; Chen, Yu; Griffiths, Gary L.; Summers, Ronald M.

    2012-01-01

    Mutated adenomatous polyposis coli (APC) genes predispose transformations to neoplasia progressing to colorectal carcinoma (CRC). Early detection facilitates clinical management and therapy. Novel lectin-mediated polymerized targeted liposomes (Rh-I-UEA-1), with polyp specificity and incorporated imaging agents, were fabricated to locate and image adenomatous polyps in APCMin/+ mice. The biomarker α-L-fucose covalently joins liposomal conjugated lectin ulex euroapeus agglutinin (UEA-1), via glycosidic linkage to the polyp mucin layer. Multispectral optical imaging (MSI) corroborated a global perspective of specific binding (Rhodamine B 532 nm emission, 590–620 nm excitation) of targeted Rh-I-UEA-1 polymerized liposomes to polyps with 1.4× fold labeling efficiency. High-resolution co-registered optical coherence tomography (OCT) and fluorescence molecular imaging (FMI) reveal spatial correlation of contrast distribution and tissue morphology. Freshly excised APCMin bowels were incubated with targeted liposomes (UEA-1 lectin), control liposomes (no lectin), or Omnipaque and imaged by the three techniques. CT quantitative analyses did not confirm targeted liposomes more strongly bound polyps than nontargeted liposomes or Omnipaque alone. OCT, with anatomical depth capabilities, along with the co-registered FMI, substantiated Rh-I-UEA-1 liposome binding along the mucinous polyp surface. UEA-1 lectin denotes α-L-fucose biomarker carbohydrate expression at the mucin glycoprotein layer; Rh-I-UEA-1 polymerized liposomes target and image adenomatous polyps in APCMin mice. PMID:21521550

  1. Familial Adenomatous Polyposis (FAP):Genotype Correlation to FAP Phenotype With Osteomas and Sebaceous Cysts

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Bülow, Steffen

    2006-01-01

    Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome an...

  2. 77 FR 34052 - Pfizer, Inc.; Withdrawal of Approval of Familial Adenomatous Polyposis Indication for CELEBREX

    Science.gov (United States)

    2012-06-08

    ... adults. Withdrawal of approval of the FAP indication does not affect any other approved indication for..., and Cosmetic Act (21 U.S.C. 355(e)) and 21 CFR 314.150(d), and under authority delegated by the...

  3. A proposed staging system and stage-specific interventions for familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Lynch, Patrick M; Morris, Jeffrey S; Wen, Sijin

    2016-01-01

    in polyp burden as a sufficient chemoprevention trial treatment endpoint requiring a measure of "clinical-benefit." To develop endpoints for future industry-sponsored chemopreventive trials, the International Society for Gastrointestinal Hereditary Tumors (InSIGHT) developed an FAP staging and intervention...

  4. Micro RNA-19a interferes with IL-10 expression in peripheral dendritic cells of patients with nasal polyposis.

    Science.gov (United States)

    Luo, Xiang-Qian; Shao, Jian-Bo; Xie, Rui-Di; Zeng, Lu; Li, Xiao-Xi; Qiu, Shu-Qi; Geng, Xiao-Rui; Yang, Li-Tao; Li, Lin-Jing; Liu, Da-Bo; Liu, Zhi-Gang; Yang, Ping-Chang

    2017-07-25

    The pathogenesis of nasal polyp is to be further investigated. Micro RNA (miR) plays a role in the development of allergic inflammation. Interleukin (IL)-10-producing dendritic cells (DC) have immune tolerogenic properties. This study test a hypothesis that miR-17-92 cluster is associated with suppressing IL-10 in peripheral DC. In this study, peripheral blood samples were obtained from 26 patients with nasal polyp. The CD11c DCs were isolated from the blood samples and analyzed for the expression of IL-10. We observed that, as compared with healthy subjects, the IL-10 expression in peripheral DC was significantly lower in polyp patients. The levels of miR-19a, but not the rest 5 members of the miR-17-92 cluster, were markedly higher in DCs in polyp group. Exposure to recombinant IL-4 suppressed the IL-10 expression in DCs, which was abolished by blocking histone deacetylase-11 or knocking down the miR-19a gene in DCs. We conclude that miR-19a plays a critical role in the suppression of IL-10 in peripheral DCs, which may be a target in the immune therapy for nasal polyp.

  5. Multiple lymphomatous polyposis of the gastrointestinal tract

    Directory of Open Access Journals (Sweden)

    Maria Isete Fares Franco

    Full Text Available CONTEXT: Gastrointestinal multiple lymphomatous polyposis is a rare type of malignant lymphoma that has aggressive biological behavior, early systemic dissemination and poor prognosis. It is considered to be a manifestation of non-Hodgkin lymphoma and represents the gastrointestinal counterpart of mantle cell nodal lymphoma. OBJECTIVE: A case of gastrointestinal multiple lymphomatous polyposis is presented and the anatomopathological, clinical, diagnostic and treatment aspects of this unusual neoplasia are discussed. CASE REPORT: The patient was a 59-year-old white male with a complaint of asthenia, night sweating, alteration in intestinal habit and weight loss over the preceding two months. The physical examination showed pallid mucosa and a palpable mass in the epigastrium and mesogastrium. Endoscopy of the upper digestive tract showed the presence of gastric and duodenal polyps. An opaque enema showed multiple polypoid lesions, especially in the cecum. A rectal biopsy revealed infiltration of the mucosa and submucosa by diffuse lymphoma consisting of small cleaved cells. Immunohistochemical study showed lymphocytes that expressed the antibody CD20 (L-26 and light-chain kappa (k immunoglobulin, but not light-chain lambda (l immunoglobulin. The patient presented a condition of acute intestinal obstruction with the presence of a mesenteric mass formed by agglutinated lymph nodes that surrounded the proximal ileum, thereby obstructing its lumen. He was submitted to a segmental enterectomy and gastrotomy with excisional biopsies of the gastric polypoid lesions. After two cycles of chemotherapy there was a worsening of the general state, with an increase in the dimensions of the abdominal masses and sepsis, accompanied by progressive respiratory insufficiency, leading to death.

  6. Ganglioneuromatous polyposis of the colon: A case report and a review of the literature

    Directory of Open Access Journals (Sweden)

    Cristina D′Ercole

    2011-01-01

    Full Text Available This report discusses a case of ganglioneuromatous polyposis of the colon in a woman without any other systemic manifestations. To our knowledge, this is the first report of the few cases of intestinal ganglioneuromatosis described in the literature presenting with abdominal pain and bloody diarrhea as unique clinical signs, with multiple polyps confined in the right side of the transverse colon and in the ascending colon. Of note, the endoscopic feature of such a rare entity - which involves the enteric nervous system -may mimic that of sessile adenomatous polyps which are diagnosed at routine colonoscopy. We emphasized that this condition may be misdiagnosed, and we reviewed the reported cases in the literature.

  7. Nasal polyposis and immunoglobulin-G subclass deficiency.

    Science.gov (United States)

    Tran Khai Hoan, N; Karmochkine, M; Laccourreye, O; Bonfils, P

    2014-06-01

    Study of the association between immunoglobulin-G (IgG) subclass deficiency and nasal polyposis. Longitudinal study (5 years) in a prospective cohort of 161 nasal polyposis patients. Analysis of the association between humoral immunodeficiency, rhinologic symptoms, endoscopy score and prescribed doses of local and systemic corticosteroids. The prevalence of IgG subclass deficiency was 13.7% (22/161). One patient was diagnosed with common variable immunodeficiency (CVID). No significant differences were observed between the groups with and without pre-treatment deficiency for symptom severity, endoscopic score or local or systemic corticosteroid regimens at baseline or during the 5 years, following initiation of medical and surgical treatment. Only the Lund-Mackay CT score was significantly higher in the pre-treatment deficiency group. There was no correlation between the presence of humoral deficiency and either symptom evolution after medical and surgical treatment or the dose of corticosteroids needed to control disease. Thus, a link between IgG subclass deficiency and nasal polyposis seems unlikely. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  8. POSSIBILITY OF PHARMACOMODULATION OF THE HYPERSENSITIVE RHINITIS JOINED WITH THE NASAL POLYPOSIS

    Directory of Open Access Journals (Sweden)

    Dejan Ursulović

    2001-11-01

    Full Text Available The research goai is to examine the effects of the local corticosteroidapplication to the number of eosinophils in the nasal secretion of the patients withhypersensitive rhinitis joined with the nasal polyposis. The study comprises 13patients with hypersensitive rhinitis joined with the nasal polyposis; 9 of them madeup the experimental group. The local corticosteroid (bechomethasone dipropionatein water spray was given at 12 hours in individual doses of 200 micrograms to theexperimental group patients in six weeks. During the treatment it was confirmed thatthere was a highly important reduction of the number of eosinophils of the nasalsecretion in the experimental group patients.

  9. Serrated Polyposis: An Enigmatic Model of Colorectal Cancer Predisposition

    Directory of Open Access Journals (Sweden)

    Christophe Rosty

    2011-01-01

    Full Text Available Serrated polyposis has only recently been accepted as a condition which carries an increased personal and familial risk of colorectal cancer. Described over four decades ago, it remains one of the most underrecognized and poorly understood of all the intestinal polyposes. With a variety of phenotypic presentations, it is likely that serrated polyposis represents a group of diseases rather than a single entity. Further, neoplastic progression in serrated polyposis may be associated with premature aging in the normal mucosa, typified by widespread gene promoter hypermethylation. From this epigenetically altered field, arise diverse polyps and cancers which show a range of molecular features. Despite a high serrated polyp count, only one-third of colorectal cancers demonstrate a BRAF V600E mutation, the molecular hallmark of the canonical serrated pathway, suggesting that though multiple serrated polyps act as a marker of an abnormal mucosa, the majority of CRC in these patients arise within lesions other than BRAF-mutated serrated polyps.

  10. Altered Interactions between the Gut Microbiome and Colonic Mucosa Precede Polyposis in APCMin/+ Mice.

    Directory of Open Access Journals (Sweden)

    Joshua S Son

    Full Text Available Mutation of the adenomatous polyposis coli (APC gene, an early event in the adenoma-carcinoma sequence, is present in 70-80% of sporadic human colorectal adenomas and carcinomas. To test the hypothesis that mutation of the APC gene alters microbial interactions with host intestinal mucosa prior to the development of polyposis, culture-independent methods (targeted qPCR assays and Illumina sequencing of the 16S rRNA gene V1V2 hypervariable region were used to compare the intestinal microbial composition of 30 six-week old C57BL/6 APCMin/+ and 30 congenic wild type (WT mice. The results demonstrate that similar to 12-14 week old APCMin/+ mice with intestinal neoplasia, 6 week old APCMin/+ mice with no detectable neoplasia, exhibit an increased relative abundance of Bacteroidetes spp in the colon. Parallel mouse RNA sequence analysis, conducted on a subset of proximal colonic RNA samples (6 APCMin/+, 6 WT revealed 130 differentially expressed genes (DEGs, fold change ≥ 2, FDR <0.05. Hierarchical clustering of the DEGs was carried out by using 1-r dissimilarity measurement, where r stands for the Pearson correlation, and Ward minimum variance linkage, in order to reduce the number of input variables. When the cluster centroids (medians were included along with APC genotype as input variables in a negative binomial (NB regression model, four of seven mouse gene clusters, in addition to APC genotype, were significantly associated with the increased relative abundance of Bacteroidetes spp. Three of the four clusters include several downregulated genes encoding immunoglobulin variable regions and non-protein coding RNAs. These results support the concept that mutation of the APC gene alters colonic-microbial interactions prior to polyposis. It remains to be determined whether interventions directed at ameliorating dysbiosis in APCMin/+mice, such as through probiotics, prebiotics or antibiotics, could reduce tumor formation.

  11. F 18 FDG PET/CT Findings of Spontaneous Mesenteric Fibromatosis in a Patient with Gardner's Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sohn, Myung Hee; Jeong, Young Jin; Lim, Seok Tae; Kim, Dong Wook; Jeong, Hwan Jeong; Yim, Chang Yeol [Chonbuk National Univ. Medical School and Hospital, Jeonju (Korea, Republic of)

    2011-06-15

    Gardner's syndrome (GS), a variant of familial adenomatous polyposis, is an autosomal dominant disease. Originally, Gardner described a syndrome consisting of hereditary intestinal polyposis With osteomas and multiple cutaneous and subcutaneous lesions. The syndrome was later modified by the addition of other features, such as dental abnormalities, abdominal fibromatosis, and a number of malignant tumors. the principal cutaneous lesions that have been described in GS are epidermoid cysts. Other cutaneous lesions include fibromas, lipomas, leiomyomas, neurofibromas, and pigmented skin lesions. Fibromatoses are histologically benign, but locally aggressive fibrous tumors consisting of mature fibroblasts within an extensive collagen matrix. Most cases are sporadic, but there is a clear association with familial adenomatous polyposis and GS, suggesting a link with a mutation of the APC gene on chromosome 5q22. Fibromatosis occurs in 3.5%-29% of patients with GS, and is more likely to be multiple and to involve the mesentery and abdominal wall rather than being an isolated form. Clinically, fibromatosis presents as a painless firm soft tissue mass. Most cases of fibromatosis are believed to be precipitated by surgical trauma, however, a few cases of spontaneous occurrence have been reported. In our patient, no history of abdominal surgery or trauma was present. In addition, an abdominal CT obtained 2 years ago revealed no abnormality. Although the radiological features of fibromatosis on CT or MR have been described in the literature, F 18 FDG PET or PET/CT findings are rarely reported. The F 18 FDG uptake in patients with fibromatosis ranged from low to moderate grade and was generally heterogenous with a few tiny foci of relatively intense uptake or relatively homogenous. The areas of higher FDG metabolism are likely to represent more cellular and mitotically active areas. Mesenteric fibromatosis has similar findings to extra abdominal lesions.

  12. The effect of wheat bran fiber and calcium supplementation on rectal mucosal proliferation rates in patients with resected adenomatous colorectal polyps

    National Research Council Canada - National Science Library

    D S Alberts; J Einspahr; C Ritenbaugh; M Aickin; S Rees-McGee; J Atwood; S Emerson; N Mason-Liddil; L Bettinger; J Patel; S Bellapravalu; P S Ramanujam; J Phelps; L Clark

    1997-01-01

    .... Only a few prospective, randomized clinical trials have been performed to evaluate the potential preventive effects of dietary fiber or calcium in patients with an increased risk for the development...

  13. Studies on pudendal nerve terminal motor latency in patients after ileal J-pouch-anal anastomosis for ulcerative colitis and adenomatous coli in childhood.

    Science.gov (United States)

    Tomita, Ryouichi; Igarashi, Seigo; Koshinaga, Tugumichi; Fujisaki, Shigeru; Kusafuka, Takeshi

    2009-01-01

    To clarify the neurological function with respect to external anal sphincter (EAS) muscles in child patients with or without soiling after ileal J pouch anal anastomosis (IPAA), we examined the terminal motor latency in the pudendal motor nerves (PNTML). A total of nine patients after IPAA for UC (7 cases) and AC (2 cases) were studied (6 males and 3 females, 10 to 15 with a mean age of 13.8 years). Patients one year after IPAA with soiling were also subdivided by the see page of mucous and/or stool group A (5 cases); rare soiling with loose stool, group B (4 cases); occasional soiling (1 time per 2 or 3 days). However, all patients showed continence 2 years after IPAA (Group C). Group D served as controls without gastrointestinal symptoms and digestive diseases and consisted of 12 subjects (8 males and 4 females aged 12 to 16 years old with a mean age of 14.8 years). Examinations were performed 1 and 2 years after ileostomy closure. Bilateral (left-sided and right-sided) PNTML tests were performed on all patients in order to measure the latency of the response in the bilateral EAS muscle following digitally directed transrectal pudendal nerve stimulation. 1) Values of the PNTML at the right-sided of the PN: The conduction delay in group B was the longest, followed by groups A, C, and D. Moreover, significant differences in PNTML were noted between groups A and B, between groups A and D, between groups B and C, and between groups B and D (p motor nerves.

  14. Atypical presentation of pseudomembranous colitis localized in adenomatous polyps.

    Science.gov (United States)

    Hernández-Rocha, Cristian; Barra-Carrasco, Jonathan; Guzmán, Ana María; Paredes-Sabja, Daniel; Lezcano, Gabriel; Zoroquiaín, Pablo; Alvarez-Lobos, Manuel

    2013-01-14

    The most frequent cause of pseudomembranous colitis is Clostridium difficile (C. difficile) infection. This type of colitis is characterized by an endoscopic pattern of numerous small, yellowish or whitish plaques diffusely distributed, which typically compromises the rectum extending to proximal colon. Occasionally, the pseudomembranes compromise only the transverse or right colon, but their exclusive localization over polyps has not been reported. In this case report we have described a patient with symptoms compatible with C. difficile infection and positive for C. difficile toxigenic culture. Colonoscopy examination showed two small polyps with a whitish surface, and histopathological analysis confirmed them to be pseudomembranes over tubular adenomas. The rest of the colonic mucosa was normal and no other cause was demonstrated. We suggest that this particular distribution might be due to a higher affinity for dysplastic cells such as adenomatous polyps of colon by C. difficile and/or its toxins.

  15. Near-infrared autofluorescence spectroscopy for in vivo identification of hyperplastic and adenomatous polyps in the colon.

    Science.gov (United States)

    Shao, Xiaozhuo; Zheng, Wei; Huang, Zhiwei

    2011-12-15

    This study reports the implementation of an endoscope-based near-infrared (NIR) autofluorescence (AF) spectroscopy technique for in vivo differentiation of normal, hyperplastic and adenomatous colonic polyps during clinical colonoscopic examination. A total of 198 in vivo NIR AF spectra in the range of 810-1050 nm were acquired from colonic tissues (normal (n=116); hyperplastic (n=48); and adenomatous polyps (n=34)) of 96 patients undergoing colonoscopic screening. Significant differences (p<0.001, one-way analysis of variance (ANOVA)) in in vivo NIR AF intensity among normal, hyperplastic, and adenomatous polyps are observed. Multivariate statistical techniques, including principal components analysis (PCA) and linear discriminate analysis (LDA) together with the leave-one tissue site-out, cross-validation, were used to develop diagnostic algorithms for distinguishing adenomatous polyps from normal and hyperplastic colonic polyps based on NIR AF spectral features. The PCA-LDA modeling on in vivo colonic NIR AF dataset yields diagnostic sensitivities of 83.6%, 77.1%, and 88.2%; and specificities of 96.3%, 88.0%, and 92.1%, respectively, for classification of normal, hyperplastic and adenomatous colonic polyps. This work suggests that NIR AF spectroscopy associated with PCA-LDA algorithms has potential for in vivo diagnosis and detection of colonic precancer at colonoscopy. Copyright © 2011 Elsevier B.V. All rights reserved.

  16. Nasal polyposis in cystic fibrosis: follow-up of children and adolescents for a 3-year period.

    Science.gov (United States)

    Weber, Silke Anna Theresa; Iyomasa, Renata Mizusaki; Corrêa, Camila de Castro; Florentino, Wellington Novais Mafra; Ferrari, Giesela Fleischer

    Nasal polyposis is often found in patients with cystic fibrosis. To assess the incidence of nasal polyposis, the response to medical treatment, recurrence and the need for surgical intervention in children and adolescents with cystic fibrosis during a three-year follow-up. Clinical symptoms (pulmonary, pancreatic insufficiency, malnutrition, nasal obstruction), two positive sweat chloride tests, and genotype findings in 23 patients with cystic fibrosis were analyzed. All patients underwent nasal endoscopy every 12 months from January 2005 to December 2007, to assess the presence and grade of Nasal Polyps. Nasal polyposis, when present, were treated with topical corticosteroids for 6-12 months, with progress being evaluated within the 3 years of follow-up. In the first evaluation, nasal polyposis was diagnosed in 30.43% of patients (3 bilateral and 4 unilateral), recurrent pneumonia in 82.6%, pancreatic insufficiency in 87%, and malnutrition in 74%. The presence of nasal polyposis was not associated with chloride values in the sweat, genotype, clinical signs of severity of cystic fibrosis, or nasal symptoms. In the three-year period of follow up, 13 patients (56.52%) had at least one event of polyposis, with the youngest being diagnosed at 32 months of age. Only one patient underwent surgery (polypectomy), and there was one diagnosis of nasopharyngeal carcinoma. The study showed a high incidence of nasal polyposis. Monitoring through routine endoscopy in patients with cystic fibrosis, even in the absence of nasal symptoms, is highly recommended. The therapy with topical corticosteroids achieved good results. Thus, an interaction between pediatricians and otolaryngologists is necessary. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  17. [Recognising hereditary non-polyposis colorectal cancer without a clear family history

    NARCIS (Netherlands)

    Bruin, J.H.F.M. de; Nagengast, F.M.; Ligtenberg, M.J.L.; Krieken, J.H.J.M. van; Niermeijer, M.F.; Hoogerbrugge-van der Linden, N.

    2004-01-01

    In 3 patients, 2 men aged 46 and 51 years and a woman aged 54 years, with colorectal cancer there was insufficient information on the basis of the family history to diagnose 'hereditary non-polyposis colorectal cancer' (HNPCC). Further investigation showed microsatellite instability in the tumour

  18. Genetics Home Reference: juvenile polyposis syndrome

    Science.gov (United States)

    ... even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells ( anemia ), ... type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile ...

  19. Your patient information website: how good is it?

    Science.gov (United States)

    Soobrah, R; Clark, S K

    2012-03-01

    The study was designed to evaluate the accessibility, reliability and readability of information on familial adenomatous polyposis (FAP) on the Web. We searched for the keywords 'familial adenomatous polyposis' using the three most popular search engines (Google™ Yahoo™, MSN™) and looked at the first 50 websites. The LIDA tool (an online validation instrument for healthcare websites) was used to assess their accessibility, usability and reliability. The readability of each document was assessed using the Flesch Reading Ease (FRE) score. We also checked whether each site was certified by the Health on the Net Foundation Code of Conduct (HONcode)--the oldest and most trustworthy code for medical and health-related information available on the Internet. Of the 150 possible sites, only 48 were analysed because of repetitions (52), irrelevant content (21) or inaccessible links (29). Nineteen were HONcode-certified. The mean LIDA and FRE scores for all websites were 62.59% (SD=10) and 32.9 (SD=16) respectively. HONcode-certified websites have slightly higher reliability scores than HONcode-uncertified websites (38.5%vs 36.2%). Good quality information on patients with FAP is difficult to obtain on the Internet. The websites analysed have alarmingly low reliability scores. The readability of their content is poor and they often do not appear among the top search results. There is a need to develop a clear, easily accessible and authoritative resource for patients with FAP. © 2011 The Authors. Colorectal Disease © 2011 The Association of Coloproctology of Great Britain and Ireland.

  20. High-grade dysplasia in sporadic fundic gland polyps : a case report and review of the literature

    NARCIS (Netherlands)

    Jalving, M; Koornstra, JJ; Gotz, JM; van der Waaij, LA; de Jong, S; Zwart, N; Karrenbeld, Arend; Kleibeuker, JH

    2003-01-01

    We present a case of fundic gland polyps (FGPs) containing high-grade dysplasia in a 68-year-old man. High-grade dysplasia, and even gastric adenocarcinoma, associated with FGPs have been described in patients with familial adenomatous polyposis (FAP) and attenuated familial adenomatous polyposis

  1. Development and Validation of a High-Throughput Mass Spectrometry Based Urine Metabolomic Test for the Detection of Colonic Adenomatous Polyps

    Directory of Open Access Journals (Sweden)

    Lu Deng

    2017-06-01

    Full Text Available Background: Colorectal cancer is one of the leading causes of cancer deaths worldwide. The detection and removal of the precursors to colorectal cancer, adenomatous polyps, is the key for screening. The aim of this study was to develop a clinically scalable (high throughput, low cost, and high sensitivity mass spectrometry (MS-based urine metabolomic test for the detection of adenomatous polyps. Methods: Prospective urine and stool samples were collected from 685 participants enrolled in a colorectal cancer screening program to undergo colonoscopy examination. Statistical analysis was performed on 69 urine metabolites measured by one-dimensional nuclear magnetic resonance spectroscopy to identify key metabolites. A targeted MS assay was then developed to quantify the key metabolites in urine. A MS-based urine metabolomic diagnostic test for adenomatous polyps was established using 67% samples (un-blinded training set and validated using the remaining 33% samples (blinded testing set. Results: The MS-based urine metabolomic test identifies patients with colonic adenomatous polyps with an AUC of 0.692, outperforming the NMR based predictor with an AUC of 0.670. Conclusion: Here we describe a clinically scalable MS-based urine metabolomic test that identifies patients with adenomatous polyps at a higher level of sensitivity (86% over current fecal-based tests (<18%.

  2. [Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer].

    Science.gov (United States)

    Navarro, Matilde; González, Sara; Iglesias, Silvia; Capellá, Gabriel; Rodríguez-Moranta, Francisco; Blanco, Ignacio

    2013-07-21

    Hyperplastic polyposis syndrome (HPS) is an uncommon disorder characterized by hyperplastic polyps (HP) occasionally associated with serrated adenomas (SA) or mixed polyps (MP) and defined by clinical criteria (OMS/Cleveland). HPS is heterogeneous regarding the number and size of polyps, and it is associated with colorectal cáncer (CRC) and a family history. Its genetic basis is unknow. We describe individuals with HPS criteria from a series of families assessed in our Unit of Genetic Advice for colonic polyposis. Our objective is to identify the clinical characteristics of this syndrome. Retrospective study of 197 families with colonic polyposis (1998-2011), identifying patients with HPS criteria. To know the number of polyps, we took into account polypectomies and/or the histologic study of surgical samples. Polyps were classified into adenomas, serrated lesiones (HP and SA) and MP. Genetic studies revealed: microsatellite instability (MSI), MUTYH gene variants (p.Tyr165Cys, p.Gly382Asp and p.Glu396GlyfsX43) and APC gene. Eighteen individuals, with a median age of 51.1 years, had criteria of HPS (11M/7F). Number of HP varied between 14 and 100 coexisting with classical adenomas, SA and MP in 14 individuals (77.8%). Localization of polyps: ascending and descending colon in 13 individuals (72.2%) and only descending colon in 5 (27.8%). A CRC was detected in 10/18 (55.6%) patients, and 3 of them had a double CRC, a family history in 3 patients (16.7%) and a history of HPS in one. IMS was not detected in 8 CRC nor in 3 adenomas studied; we detected 2/13 heterozygous mutations in the MUTYH gene (p.Gly382Asp) and one variant with an unknown biological significance in the APC gene (p.Ser926Pro). The phenotypic variability of HPS difficults its identification, hence it is important to adhere to the clinical criteria established for its classification as well as to establish screening guidelines for CRC on the basis of its high incidence. Copyright © 2012 Elsevier Espa

  3. Expression of COX-2 and p53 in juvenile polyposis coli and its correlation with adenomatous changes

    Directory of Open Access Journals (Sweden)

    Shatavisha Das Gupta

    2016-01-01

    Conclusion: We observed significantly higher COX-2 expression in JPC. Establishment of the role of COX-2 in JPC will help us formulate chemopreventive therapies as an adjunct to its surgical management.

  4. Rarity of adenomatous polyps in ulcerative colitis and its implications for colonic carcinogenesis.

    Science.gov (United States)

    Ben-Horin, Shomron; Izhaki, Ziv; Haj-Natur, Ola; Segev, Shlomo; Eliakim, Rami; Avidan, Benjamin

    2016-03-01

    Despite ample research on the dysplasia to carcinoma risk in ulcerative colitis, there are scant data on the prevalence of adenomatous polyps in this population. The number and histology of all polyps detected at colonoscopies of ulcerative colitis patients aged > 50 during 2006 - 2012 were compared with similarly aged controls undergoing screening colonoscopy. There were 206 patients with ulcerative colitis and 624 controls included in the study (mean age 61.7 ± 8.7 vs. 60.8 ± 6.1, respectively; P = 0.15). Adenomatous polyps were detected in only 13/206 colonoscopies for ulcerative colitis compared with 162 /624 controls (6.3 % vs. 25.9 %, respectively; odds ratio [OR] 0.19, 95 % confidence interval [CI] 0.1 - 0.34; P  50 years, the rate of ever-adenomas in small-bowel Crohn's disease was similar to the controls (P = 0.8) and not influenced by 5-aminosalicylic acid use, whereas patients with colonic Crohn's disease had a significantly lower rate of adenomas compared with the controls (3.9 % vs. 25.9 %; P = 0.002). Unlike patients with small-bowel Crohn's disease, patients with ulcerative colitis or with colonic Crohn's disease seldom develop sporadic adenomatous polyps. These data may provide novel clues to a possible role for colonic immune activation in restricting the adenoma to carcinoma sequence while propagating the dysplasia to carcinoma pathway. © Georg Thieme Verlag KG Stuttgart · New York.

  5. Effect of Topical Furosemide on Rhinosinusal Polyposis Relapse After Endoscopic Sinus Surgery: A Randomized Clinical Trial.

    Science.gov (United States)

    Hashemian, Farnaz; Ghorbanian, Mohammad Ali; Hashemian, Farshad; Mortazavi, Seyed Alireza; Sheikhi, Mojgan; Jahanshahi, Javaneh; Poorolajal, Jalal

    2016-11-01

    Evidence from previous studies suggests that furosemide may be effective in reducing the recurrence of polyps after sinus surgery. However, the evidence is limited and insufficient, and further investigations are required. To assess the effect of topical furosemide on recurrence rate of rhinosinusal polyposis after endoscopic sinus surgery. Triple-blind randomized clinical trial of patients aged 18 to 60 years with chronic rhinosinusitis associated with polyposis who did not respond to medical treatment and were candidates for endoscopic sinus surgery at Besat Hospital, Hamadan University of Medical Sciences, from April 2014 to June 2015. Patients were randomly assigned to receive postoperative nasal spray, 2 puffs twice a day for 2 months, either 300 µg of furosemide per day or placebo. Six months after surgery, the patients were examined for nasal and paranasal sinus polyposis using Meltzer endoscopic grading, computed tomographic (CT) scan of paranasal sinuses (PNS) scoring, Sino-Nasal Outcome Test (SNOT-22) scoring, and visual analog scale (VAS). Of 110 patients enrolled, 84 patients remained for analysis (53 men and 31 women; mean age in the furosemide group, 37.02 years, range, 18-58 years; mean age in the placebo group, 36.30 years, range, 18-60 years). Six months after the intervention, the grade of polyposis decreased in both groups, but this reduction was substantial in the furosemide group vs the placebo group. The severity of polyposis was significantly lower in the furosemide group vs the placebo group based on SNOT-22 scoring (difference, 8.05; 95% CI, 3.24-12.85) and VAS (difference, 0.81; 95% CI, 0.22-1.39) but not significantly different based on CT scan of PNS scoring (difference, 2.52; 95% CI, -0.35 to 5.39). The incidence of adverse effects (nasal irritation, headache, and constipation) were not significantly different between the 2 groups. These findings indicate that topical furosemide is a safe drug, with no important adverse effects, that

  6. Aggressive juvenile polyposis in children with chromosome 10q23 deletion

    OpenAIRE

    Septer, Seth; Zhang, Lei; Lawson, Caitlin E; Cocjin, Jose; Attard, Thomas; Ardinger, Holly H

    2013-01-01

    Juvenile polyps are relatively common findings in children, while juvenile polyposis syndrome (JPS) is a rare hereditary syndrome entailing an increased risk of colorectal cancer. Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS. Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome. Several previous reports have described microdeletions in chromosome 10q23 encompassing both PTEN...

  7. Aspirin sensitivity syndrome (Samter's Triad): an unrecognized disorder in children with nasal polyposis.

    Science.gov (United States)

    Chen, Brian S; Virant, Frank S; Parikh, Sanjay R; Manning, Scott C

    2013-02-01

    Aspirin sensitivity syndrome is an underdiagnosed entity in pediatric otolaryngology. The diagnosis must be considered in a pediatric non-cystic fibrosis patient with florid nasal polyposis. In this small case series, we will describe 2 patient's presentation, work up, allergic and surgical therapies and their postoperative course. In doing so, we hope to increase awareness and to illustrate the details that are involved in its diagnosis and treatment. Published by Elsevier Ireland Ltd.

  8. Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene

    Directory of Open Access Journals (Sweden)

    Amna Ahmed

    2017-01-01

    Full Text Available Juvenile polyposis syndrome (JPS is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop. To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.

  9. Protein-losing enteropathy cured by resection of adenomatous goiter: report of a case.

    Science.gov (United States)

    Takada, Jun; Araki, Hiroshi; Kubota, Masaya; Ibuka, Takashi; Shiraki, Makoto; Shimizu, Masahito; Moriwaki, Hisataka

    2015-06-01

    A 51-year-old Japanese woman presented to our hospital with systemic edema and general fatigue. Her serum albumin level was very low (1.5 g/dL). Technetium-99 m-human serum albumin ((99m)Tc-HSA) scintigraphy showed albumin leakage from the upper small bowel. Magnetic resonance lymphangiography showed dilated lymphatic vessels in the chest, whereas double-balloon enteroscopy (DBE) showed white villi and chyle leakage in the deeper part of the duodenal mucosa. A duodenal mucosa biopsy specimen revealed lymphangiectasia. She was diagnosed with protein-losing enteropathy (PLE). Treatment with a fat-restricted diet and tranexamic acid--previously reported to be effective against PLE--was attempted, but was ineffective. A thyroid tumor was simultaneously detected in her left neck, and was found to extend to the mediastinum on computed tomography. The tumor (size, >5 cm) was resected, and a pathological diagnosis of adenomatous goiter was made. The patient's serum albumin level increased to normal levels within 1 month postoperatively. After 6 months, (99m)Tc-HSA scintigraphy showed no albumin leakage from the gastrointestinal tract, and disappearance of white villi and chyle leakage on DBE. No lymphangiectasia was noted in the biopsy specimen. Adenomatous goiter was thus considered the cause of the PLE, possibly through lymph flow obstruction in the mediastinum.

  10. Uso de analgésicos e antiinflamatórios em pacientes portadores de polipose nasossinusal eosinofílica tolerantes e intolerantes à aspirina Use of analgesics and anti-inflammatory drugs in patients with eosinophilic nasal polyposis tolerant and intolerant to aspirin

    Directory of Open Access Journals (Sweden)

    Helena M. G. Becker

    2003-06-01

    dipirona e ao álcool, respectivamente, em quase metade e um terço destes pacientes.Following aspirin introduction as medicine, several reports were described concerning adverse reactions after its ingestion. Widal et al. (1922¹ were the first investigators to associate Aspirin intolerance (AI with asthma and nasal polyps (NP followed by Samter & Beers (1967². Such intolerance was manifested mainly by nasal obstruction and/or bronchospasm related to the cyclooxygenase-1 (COX-1 inhibition and consequent overproduction of leukotrienes. This might also be triggered by the administration of other non-steroid anti-inflammatory drugs, acetaminophen, food dyes and additives and alcohol. AIM: To analyze the risks of the analgesics and anti-inflammatory drugs use in patients with eosinophilic nasal polyposis tolerant and intolerant to aspirin. STUDY DESIGN: Transversal cohort study. MATERIAL AND METHOD: 45 patients were selected # 15 suffering from eosinophilic nasosinusal polyposis, tolerant to aspirin (group TA; other 15 with eosinophilic nasosinusal polyposis associated with aspirin intolerance (group AI, and 15 patients without nasosinusal polyposis with septal deviation (control group. The presence of reaction to aspirin, dipyrone, acetaminophen, other non-steroids anti-inflammatory drugs, food dyes and additives, other drugs or chemical substances was detected by inquiry. To exclude aspirin intolerance in TA and control groups, oral provocation test with aspirin was carried out. RESULTS: Bronchospasm was the main aspirin reaction in patients suffering from eosinophilic nasosinusal polyposis and which also showed with ingestion of acetaminophen (20%, alcohol (27%, non-steroids anti-inflammatory drugs (60% and dipyrone (47%. CONCLUSION: In patients with eosinophilic nasosinusal polyposis associated with aspirin intolerance it is important to do the diagnosis of intolerance to other drugs. The use of dipyrone and alcohol is worth attention, once its intolerance was observed

  11. Hereditary non-polyposis colorectal cancer: clinical features and survival. Results from the Danish HNPCC register

    DEFF Research Database (Denmark)

    Myrhøj, T; Bisgaard, M L; Bernstein, Inge Thomsen

    1997-01-01

    BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited syndrome characterized by the development of colorectal cancer (CRC) and other carcinomas. Our aim was to evaluate tumour parameters and survival in HNPCC. METHODS: One hundred and eight Danish HNPCC patients...... were compared with 870 patients with sporadic colorectal cancer. RESULTS: The median age at CRC diagnosis was 41 years in the HNPCC group. HNPCC patients had significantly more carcinomas located to the right colon (68% against 49% in controls), more synchromous tumours (7% versus 1%), more...

  12. Gastrointestinal polyposis syndromes: clinical and molecular aspects with an emphasis on Peutz-Jeghers syndrome

    NARCIS (Netherlands)

    Jansen, M.

    2008-01-01

    Gastrointestinal polyposis syndromes are characterized by the development of gastrointestinal polyps and an increased risk for neoplastic transformation. Peutz-Jeghers syndrome is a polyposis syndrome characterized by the development of gastrointestinal hamartomas; the molecular and

  13. Does maxillary arch remodeling exist in nasal polyposis?

    Science.gov (United States)

    Gunhan, Kivanc; Can, Fatma; Uz, Uzdan; Serter, Selim; Unlu, Halis

    2010-01-01

    The potential transformation in the maxillary complex morphology is mostly complete during childhood. Recent studies suggest a nasal tissue remodeling both in the overlying mucosa and in the underlying sinus bone in nasal polyposis (NP). Our evaluation of computed tomography (CT) revealed that the maxillary arch is more flat and shallow in patients with chronic rhinosinusitis with NP. The purpose of this study was to determine the possible effects of NP to the maxillary arch morphology in adulthood and to investigate a possible remodeling of the maxillary bone during the course of NP. A prospective study was performed on 25 patients. Grading of the polyps, acoustic rhinometry and rhinomanometry assessments, and CT scans were documented initially, 1 year after diagnosis, and 2 years postoperatively. Twenty-five subjects' CT scans randomly selected from our CT database formed the comparison group. The plane angle between the maxillary alveolar processes (MAP) and the palatine process of the maxillary bone (MPP), and the depth of the maxillary arch of both groups were compared. The results pointed out that the maxillary arch was shallower and the bilateral angles between MAP and MPP were significantly greater than those of the comparison group in all evaluation periods. This difference was less at the end of the postoperative follow-up period. Although it is a common belief that maxillofacial formation expires in childhood, this may not be the case under some special conditions such as NP in adulthood. NP might cause maxillary arch remodeling in adults.

  14. Local IgE production in nonatopic nasal polyposis.

    LENUS (Irish Health Repository)

    Sheahan, Patrick

    2012-02-01

    INTRODUCTION: Chronic rhinosinusitis with nasal polyposis (CRSwNP) represents an eosinophilic T-helper 2 inflammatory response. Local production of IgE within nasal polyps (NPs) has been demonstrated, suggesting a role for local IgE in the pathogenesis of NP in atopic CRS patients. We hypothesized that local IgE specific to inhalant allergens may also play a role in the genesis of NP in nonatopic CRS patients. METHODS: Sinus and inferior turbinate tissue was obtained from nonatopic CRSwNP patients (n = 7), chronic rhinosinusitis without nasal polyps (CRSsNP) patients (n = 15), and healthy controls (n = 9) at the time of surgery. ImmunoCAP analysis (Phadia AB, Portage, MI) for 14 common inhalant antigens was performed on tissue homogenates to determine the antigen-specific response. RESULTS: Total IgE levels did not differ in sinus or turbinate tissue between CRSwNP, CRSsNP, or control patients. CRSwNP sinus tissue had higher levels of specific IgE for cockroach and plantain (p = .03) than other groups and elevated Alternaria IgE levels when compared with CRSsNP sinus tissue (p < .05). No significant differences were found for any of the other antigen-specific IgE levels. Fifty-seven percent of CRSwNP polyps demonstrated a polyclonal IgE response, whereas the other 43% had no demonstrable antigen-specific IgE. In contrast, only 17% of CRSsNP patients demonstrated a polyclonal response within sinus tissue, whereas 67% had no detectable antigen-specific IgE. There was no significant difference in levels of IgE in inferior turbinate tissue between the groups (p > .05). CONCLUSIONS: Localized mucosal IgE specific to common inhalant allergens appears to play a role in a subset of CRSwNP patients without evidence of systemic atopy.

  15. Adenomatous hyperplasia of the rete testis: A rare intrascrotal lesion managed with limited testicular excision

    Directory of Open Access Journals (Sweden)

    Francesco Catanzariti

    2016-10-01

    Full Text Available Introduction: Testicular cancer is one of the most frequent in young men and its incidence is increasing in recent years because of incidental finding during routine ultrasound exams. Adenomatous hyperplasia of the rete testis is one of the benign and rare pathological types incidentally detected and very few cases are described in the literature. Case report: A 40 years old man come to our attention for a balanoposthitis without testicular pain. During andrological examination we performed palpation of the testes and we noticed a palpable nodule of hard consistency in the left testicle. We then performed an ultrasound exam of the testis which highlighted the presence of an intra-didymus neoformation with diameters of 1.2 x 1.6 cm and with the presence of cysts inside. We also performed blood tests to check tumor markers alpha fetoprotein, beta hCG and LDH which resulted inside the normal range. We then conducted a chest and abdomen CT scan that showed no pathological elements. Therefore, as we suspected that this tumor was benign, we performed an enucleation of the neoplasm. The definitive histological examination revealed the presence of dilated ducts lined with epithelial cubic-columnar cells with clear cytoplasm rich in glycogen and the pathologist so concluded that the tumor could be classified as adenomatous hyperplasia of the rete testis. At three months of follow up, the patient doesn’t have any recurrent lesion to either testicles. Discussion: Adenomatous hyperplasia of the rete testis is a very rare intrascrotal lesion. This histological type is the most frequent between benign lesion of the ovary, but few works in literature reported this histological type in the male gonad and, in most of these works, authors described these lesion at epididymis. Conclusion: We believe that a conservative approach must be considered mandatory in case of testicular lesions 1.5 cm in diameter. A radical approach might have alterate fertility of the

  16. Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer.

    Science.gov (United States)

    Grünhage, Frank; Jungck, Matthias; Lamberti, Christof; Schulte-Witte, Hildegard; Plassmann, Dominik; Becker, Ursula; Rahner, Nils; Aretz, Stefan; Friedrichs, Nicolaus; Buettner, Reinhard; Sauerbruch, Tilman; Lammert, Frank

    2008-01-01

    Mutations of the base excision repair gene MUTYH have been reported as underlying genetic defects in autosomal-recessive familial adenomatous polyposis (FAP). Our aim was to determine the frequency of the most common mutations (p.Tyr165Cys and p.Gly382Asp) in patients with strong evidence for familial colorectal cancer (fCRC). We recruited 93 patients with fCRC but no indication for monogenic CRC syndromes (FAP, hereditary non-polyposis colorectal cancer). Tumors showed regular expression of MLH1 and MSH2, and microsatellite instability was excluded. Sporadic CRC patients (n=93) and 'hyper-normal' controls without any adenomas in screening colonoscopies (n=93) were studied for comparison. In the fCRC group, two patients carried biallelic mutations (p.Tyr165Cys/p.Tyr165Cys, p.Tyr165Cys/p.Gly382Asp), while four patients displayed a heterozygous genotype (3 x p.Tyr165Cys/wt, 1 x p.Gly382Asp/wt). In contrast, only two p.Gly382Asp/wt patients were detected in the sporadic CRC group and one p.Gly382Asp carrier was observed in 'hyper-normal' controls, and the p.Tyr165Cys risk allele was absent in both control groups. Association tests demonstrated an increased odds ratio (OR) for CRC in carriers of the p.Tyr165Cys risk allele among fCRC patients, as compared to sporadic CRC patients and controls (OR 2.38; p=0.03). In our cohort the prevalence of pathogenic MUTYH mutations was increased among fCRC patients compared to sporadic CRC and controls. The association of the p.Tyr165Cys mutation with fCRC indicates that this variant represents a susceptibility factor in a defined subgroup of CRC patients with a positive family history.

  17. Predictive gene signatures: molecular markers distinguishing colon adenomatous polyp and carcinoma.

    Directory of Open Access Journals (Sweden)

    Janice E Drew

    Full Text Available Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selection of appropriate drug therapies for individual patients. Typically only very small amounts of tissue are available from patients for analysis and biopsy samples exhibit broad heterogeneity that cannot be captured using a single marker. This report details application of an in-house custom designed GenomeLab System multiplex gene expression assay, the hCellMarkerPlex, to assess predictive gene signatures of normal, adenomatous polyp and carcinoma colon tissue using archived tissue bank material. The hCellMarkerPlex incorporates twenty-one gene markers: epithelial (EZR, KRT18, NOX1, SLC9A2, proliferation (PCNA, CCND1, MS4A12, differentiation (B4GANLT2, CDX1, CDX2, apoptotic (CASP3, NOX1, NTN1, fibroblast (FSP1, COL1A1, structural (ACTG2, CNN1, DES, gene transcription (HDAC1, stem cell (LGR5, endothelial (VWF and mucin production (MUC2. Gene signatures distinguished normal, adenomatous polyp and carcinoma. Individual gene targets significantly contributing to molecular tissue types, classifier genes, were further characterised using real-time PCR, in-situ hybridisation and immunohistochemistry revealing aberrant epithelial expression of MS4A12, LGR5 CDX2, NOX1 and SLC9A2 prior to development of carcinoma. Identified gene signatures identify aberrant epithelial expression of genes prior to cancer development using in-house custom designed gene expression multiplex assays. This approach may be used to assist in objective classification of disease initiation, staging, progression and therapeutic responses using biopsy material.

  18. Mutator gene and hereditary non-polyposis colorectal cancer

    Science.gov (United States)

    de la Chapelle, Albert [Helsingfors, FI; Vogelstein, Bert [Baltimore, MD; Kinzler, Kenneth W [Baltimore, MD

    2008-02-05

    The human MSH2 gene, responsible for hereditary non-polyposis colorectal cancer, was identified by virtue of its homology to the MutS class of genes, which are involved in DNA mismatch repair. The sequence of cDNA clones of the human gene are provided, and the sequence of the gene can be used to demonstrate the existence of germ line mutations in hereditary non-polyposis colorectal cancer (HNPCC) kindreds, as well as in replication error.sup.+ (RER.sup.+) tumor cells.

  19. HEREDITARY NON-POLYPOSIS COLORECTAL CANCER (LYNCH SYNDROME PADA WANITA UMUR 16 TAHUN

    Directory of Open Access Journals (Sweden)

    Asril Zahari

    2011-09-01

    Full Text Available AbstrakKanker kolorektal menduduki peringkat ketiga jenis kanker yang paling sering terjadi di dunia. Sekitar 3% kasus kanker kolorektal merupakan jenis hereditary non polyposis colorectal cancer (HNPCC/Lynch syndrome, yang sering muncul pada usia muda. Dilaporkan satu kasus di rumah sakit Dr. M. Djamil Padang, wanita berumur 16 tahun dengan keluhan nyeri perut kanan bawah. Didapatkan riwayat penyakit serupa pada kakek, bibi pasien dan enam anggota keluarga yang lain. Pada pemeriksaan fisik abdomen teraba massa dengan konsistensi keras dan terfiksir. Pada kolonoskopi dan biopsi ditemukan tumor jenis adenocarcinoma colon moderatly differentiated di fleksura hepatika dan polip di kolon sigmoid. Berdasarkan kriteria Amsterdam pasien didiagnosa Lynch syndrome. Pada Pasien dilakukan subtotal kolektomi, anastomose ileorectal dan kemoterapi ajuvan. Identifikasi genetik sedang dikerjakan untuk melihat adanya kelainan genetik pada pasien. Pasien melakukan skrining berkala untuk mencegah kanker HNPCC jenis yang lain.Kata kunci : Hereditary non polyposis colorectal cancer, Lynch syndrome, Microsatellite instability, skrining.AbstractCarcinoma colorectal is the third most common type of cancer that occurs in the world. About 2% -3% of cases of colorectal cancer is hereditary non-polyposis colorectal cancer (HNPCC/Lynch syndrome, which often appear at a young age. Amsterdam and Bethesda criteria have been used to identify patients with Lynch syndrome.one case was reported at the Dr. M. Djamil Padang hospital, a 16-year-old girl with right lower abdominal pain. Obtained a history of similar disease in grandparents, aunts and six other family members. On physical examination found palpable fixed abdominal mass with hard consistency in the lower right abdomen. At colonoscopy and biopsy found a moderatly differentiated adenocarcinoma colon type at the hepatic flexure and the sigmoid colon polyp. Based on the Amsterdam criteria, patients diagnosed with HNPCC

  20. A possible role of stem cells in nasal polyposis

    NARCIS (Netherlands)

    Klimek, L.; Koennecke, M.; Mullol, J.; Hellings, P. W.; Wang, D. Y.; Fokkens, W.; Gevaert, P.; Wollenberg, B.

    2017-01-01

    Since its discovery, the understanding of stem/progenitor cells raised dramatically in the last decade. Their regenerative potential is important to develop new therapeutic applications, but the identification advanced much faster than our understanding of stem/progenitor cells. In nasal polyposis,

  1. Asymptomatic Multiple Lymphomatous Polyposis Identified during Staging Bidirectional Endoscopy of Mantle Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Sonja P. Dawsey

    2016-10-01

    Full Text Available Multiple lymphomatous polyposis (MLP as an extranodal manifestation of mantle cell lymphoma (MCL in the gastrointestinal tract is rare and not often reported in the literature. We describe the case of a 63-year-old female with asymptomatic MLP found during staging bidirectional endoscopy of MCL. The patient presented only with dyspnea, but was found on physical exam to have diffuse lymphadenopathy, and subsequent positron emission tomography (PET CT showed extensive lymph node adenopathy consistent with lymphoma. Excisional lymph node biopsy revealed high-risk MCL. Prior to therapy, staging bidirectional endoscopy was performed, which revealed duodenal bulb polyps and diffuse polyposis in the colon. Biopsies showed atypical lymphoid infiltrate identical to the initial excisional lymph node biopsy. The patient underwent aggressive induction therapy, chemotherapy and bone marrow transplantation. Four months later, repeat colonoscopy and biopsies showed normal mucosa, and repeat PET CT showed no evidence of systemic disease. Eight months later, the patient began having symptoms consistent with cauda equina syndrome, and she was found to have leptomeningeal recurrence of MCL. In spite of other medical treatment, the patient’s MCL progressed and she passed away 3 years after the initial presentation.

  2. The benefits of a laparoscopic approach in ileal pouch anal anastomosis formation: a single institutional retrospective case-matched experience.

    LENUS (Irish Health Repository)

    Kelly, J

    2010-06-01

    A laparoscopic approach to ileoanal pouch formation is novel. By using prospectively gathered data, laparoscopic and open restorative proctocolectomy procedures in mucosal ulcerative colitis (UC) and familial adenomatous polyposis (FAP) patients were compared using a case-matched design.

  3. Zileuton, 5-lipoxygenase inhibitor, acts as a chemopreventive agent in intestinal polyposis, by modulating polyp and systemic inflammation.

    Directory of Open Access Journals (Sweden)

    Elias Gounaris

    Full Text Available Leukotrienes and prostaglandins, products of arachidonic acid metabolism, sustain both systemic and lesion-localized inflammation. Tumor-associated Inflammation can also contribute to the pathogenesis of colon cancer. Patients with inflammatory bowel disease (IBD have increased risk of developing colon cancer. The levels of 5-lipoxygenase (5-LO, the key enzyme for leukotrienes production, are increased in colon cancer specimens and colonic dysplastic lesions. Here we report that Zileuton, a specific 5-LO inhibitor, can prevent polyp formation by efficiently reducing the tumor-associated and systemic inflammation in APCΔ468 mice.In the current study, we inhibited 5-LO by dietary administration of Zileuton in the APCΔ468 mouse model of polyposis and analyzed the effect of in vivo 5-LO inhibition on tumor-associated and systemic inflammation.Zileuton-fed mice developed fewer polyps and displayed marked reduction in systemic and polyp-associated inflammation. Pro-inflammatory cytokines and pro-inflammatory innate and adaptive immunity cells were reduced both in the lesions and systemically. As part of tumor-associated inflammation Leukotriene B4 (LTB4, product of 5-LO activity, is increased focally in human dysplastic lesions. The 5-LO enzymatic activity was reduced in the serum of Zileuton treated polyposis mice.This study demonstrates that dietary administration of 5-LO specific inhibitor in the polyposis mouse model decreases polyp burden, and suggests that Zileuton may be a potential chemo-preventive agent in patients that are high-risk of developing colon cancer.

  4. ISSN 2073-9990 East Cent. Afr. J. surg

    African Journals Online (AJOL)

    Hp 630 Dual Core

    FAP, Gardner syndrome) and the harmatomatous polyposis syndromes (Putze Jeghers syndrome, Juvenile polyposis, and Cowdenss disease)2. The adenomatous polyposis syndromes are characterized by numerous adenomatous polyps ...

  5. Gastrin promotes intestinal polyposis through cholecystokinin-B receptor-mediated proliferative signaling and fostering tumor microenvironment.

    Science.gov (United States)

    Han, Y-M; Park, J-M; Park, S-H; Hahm, K B; Hong, S P; Kim, E-H

    2013-08-01

    Increased serum gastrin concentrations in patients with colorectal cancer suggested the tumorigenic trophic effect of gastrin. Detailed and global molecular mechanisms explaining trophic effect of gastrin had not been revealed. In the current study, intestinal polyposis of APC(Min/⁺) mice was compared between phosphate buffered saline (PBS) injected and gastrin (10 μg/kg, thrice per week) injected group. Total number of intestinal polyposis was counted and immunohistochemical staining with F4/80 and CD3 was done. MTT assay, cell cycle analysis, and Western blot for cyclin D1, CDK4, and β-catenin were performed in Raw 264.7 and HCT116 cells before and after gastrin administration. Experiments were repeated with YM022 or transfection with si-cholecystokinin-B receptor (CCK-B-R). Intraperitoneal gastrin significantly increased intestinal polyposis in APC(Min/⁺) mice (Pgastrin. On comparative cytokine array, gastrin increased interleukin-1β (IL-1β), interleukin 3Rβ (IL-3Rβ), stromal cell-derived factor-1α (SDF-1α), thymus and activation-regulated chemokine (TARC), and thymus-derived chemotactic agent 3 (TCA-3) in macrophage cells, which was further confirmed with real time polymerase chain reaction (RT-PCR) analysis (Pgastrin increased macrophage proliferation accompanied with increased cyclin D1 and CDK4. Targeted for HCT116 cells, gastrin significantly increased proliferation as well as increases in synthetic phase of cell cycle. YM022 as gastrin antagonist significantly abolished the trophic actions of gastrin (Pgastrin did not increase either cell cycle or β-catenin in spite of gastrin administration. Conclusively, gastrin promoted intestinal polyposis through either direct gastrin receptor-mediated proliferative signaling or fostering tumor microenvironment such as macrophage activation.

  6. The incidence of postoperative venous thrombosis among patients with ulcerative colitis.

    LENUS (Irish Health Repository)

    O'Connor, O J

    2012-02-03

    BACKGROUND: Patients with Ulcerative Colitis (UC) have inherent prothrombotic tendencies. It is unknown whether this necessitates the use of additional perioperative anti-thrombotic prophylaxis when such patients require major surgery. METHODS: The postoperative courses of 79 patients with UC undergoing 180 major abdominal and pelvic operations were examined for clinical and radiological evidence of venous thrombosis. Eighteen patients with Familial Adenomatous Polyposis (FAP) having surgery (35 operations) of similar magnitude were also studied. Standard anti-thrombosis prophylaxis was utilised in all patients. RESULTS: Nine patients with UC were clinically suspected of developing postoperative venous thrombosis, but only three (3.8%) had their diagnosis confirmed radiologically (all had a pulmonary embolus). Therefore, the overall postoperative thrombosis rate, on an intention to treat basis, was 1.7% (3\\/180). No patient with FAP developed significant venous thrombosis. CONCLUSION: Standard perioperative antithrombotic modalities are sufficient to maintain any potential increase in postoperative thrombotic risk at an acceptable level in patients with UC undergoing operative intervention.

  7. Lymphoid polyposis with pseudomembranous colitis in a 4-month child: A rare coexistence

    OpenAIRE

    Sunil Y Swami; G F D'Costa; B D Baste; V V Narhire; N C Vinay

    2017-01-01

    Lymphoid polyposis is a lymphoid hyperplasia of the gastrointestinal tract that usually presents as multiple small polyps in the colon during childhood. This should be differentiated from other neoplastic or familial polyposis of the intestine. Pseudomembranous colitis (PMC) is commonly associated with Clostridium difficile infection (CDI) but can be a consequence of other disease processes. We report a case of benign lymphoid polyposis of the colon with pseudomembranous colitis in a 4-month ...

  8. Comorbidities in severe asthma: frequency of rhinitis, nasal polyposis, gastroesophageal reflux disease, vocal cord dysfunction and bronchiectasis

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    Carla Bisaccioni

    2009-01-01

    Full Text Available OBJECTIVES: Severe asthma is found in approximately 10% of patients with asthma. Some factors associated with worse asthma control include rhinitis, gastroesophageal reflux disease, vocal cord dysfunction (VCD, nasal polyposis and bronchiectasis. Therefore, we evaluated the prevalence of these illnesses in patients with severe asthma. METHODS: We conducted a retrospective analysis of data obtained from electronic medical records of patients with severe asthma between January 2006 and June 2008. Symptoms of rhinitis and gastroesophageal reflux disease were evaluated as well as intolerance to nonsteroidal anti-inflammatory drugs. We evaluated the results of esophagogastroduodenoscopy, videolaryngoscopy and CT scans of the chest in order to confirm gastroesophageal reflux disease, nasal polyposis, vocal cord dysfunction and bronchiectasis. RESULTS: We evaluated 245 patients. Rhinitis symptoms were present in 224 patients (91.4%; 18 (7.3% had intolerance to nonsteroidal anti-inflammatory drugs, and 8 (3.3% had nasal polyposis. Symptoms of gastroesophageal reflux disease were reported for 173 (70.6% patients, although the diagnosis of gastroesophageal reflux disease was confirmed based on esophagogastroduodenoscopy or laryngoscopy findings in just 58 (33.6% patients. Vocal cord dysfunction was suspected in 16 (6.5% and confirmed through laryngoscopy in 4 (1.6%. The patient records provided CT scans of the chest for 105 patients, and 26 (24.8% showed bronchiectasis. DISCUSSION: Rhinitis and gastroesophageal reflux disease were the most common comorbidities observed, in addition to bronchiectasis. Therefore, in patients with severe asthma, associated diseases should be investigated as the cause of respiratory symptoms and uncontrolled asthma.

  9. Modified nasal dermoplasty technique for treatment of recurrent polyposis: preliminary results.

    Science.gov (United States)

    Anastasopoulos, G; Grigoriadis, G; Papoutsi, S

    2013-06-01

    To present and evaluate the use of nasal dermoplasty for control of recurrent nasal polyps. Prospective case series. The mucosa of the fovea ethmoidalis and the lamina papyracea was replaced by a split-thickness skin graft. The follow-up period ranged from 2 to 12 months. Five patients underwent nasal dermoplasty for recurrent nasal polyposis. In three cases, the graft uptake was successful. Post-operatively, four patients reported they were in better condition than at the same interval after their previous operation. Recurrence of polyps was noted in all patients but not in the grafted areas. In this study, there was a high prevalence of successful graft uptake following nasal dermoplasty. This technique may have potential for the control of recurrent nasal polyps. Although it is demanding and time-consuming, it may reduce the need for multiple operations. Further research is justified to establish its efficacy.

  10. MYH Gene Status in Polish FAP Patients without APC Gene Mutations

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    Skrzypczak Marzena

    2006-01-01

    Full Text Available Abstract Familial Adenomatous Polyposis (FAP is an inheritable predisposition for the occurrence of numerous polyps in the large intestine. In about 50% of all patients, the occurrence of the disease is conditioned by heterozygotic mutations of the APC gene. Screening for genetic factors in persons without mutations in the APC gene led to the identification of homozygotic mutations of the MYH gene as the cause of the appearance of the polyposis form which is characterized by recessive heritability and a milder course than in the case of the classic form of the disease. The authors examined 90 persons from the DNA bank of patients with FAP from the Institute of Human Genetics of the Polish Academy of Sciences in Poznań in whom no mutations in the APC gene were detected. Two of the most frequent mutations of the MYH gene (Y165C and G382D were found to be heterozygous in 13% of patients and no other mutations in this gene coding sequence were observed. In the group with heterozygotic occurrence of the mutation in the MYH gene, the disease phenotype was not milder in comparison with the entire examined group and the mean age of the disease manifestation was even lower. This observation allows one to conclude that the employed methods of mutation screening were correct and, in the case of the examined group, the mutation ratio of the MYH gene does not precondition the occurrence of the disease, but it cannot be excluded that it may modify its phenotype. The obtained results indicate that the criteria applied during the process of FAP qualification are more rigorous than those applied in other countries.

  11. Do mtDNA Deletions Play a Role in the Development of Nasal Polyposis?

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    Arzu Tatar

    2014-04-01

    Full Text Available Objective:Nasal polyposis (NP is an inflammatory disease of the nasal mucosa and paranasal sinuses. Mitochondria are the cellular organelles which produce cellular energy by Oxidative Phosphorylation (OXPHOS, and they have own inheritance material, mtDNA. mtDNA is affected by reactive oxygen samples (ROS which are produced by both OXPHOS and the inflammatory process. The aim of this study was to investigate the 4977 bp and 7400 bp deletions of mtDNA in nasal polyposis tissue, and to indicate the possible association of mtDNA deletions with NP. Methods:Thirty-three patients, aged 15 to 65 years, with nasal polyposis were selected to be assessed for mitochondrial DNA deletions. The patients with possible mtDNA mutations due to mitochondrial disease, being treated with radiotherapy, of advanced age, with a familiar history, aspirin hypersensitivity, or a history of asthma, were excluded. Polyp excision surgery was applied to the treatment of the NP, and after histopathological diagnosis 1x1 cm of polyp tissue samples were used to isolate mtDNA. The 4977 bp and 7400 bp deletion regions, and two control regions of mtDNA were assessed by using four pairs of primers. DNA extractions from the NP tissues and peripheral blood samples of the patients were made, and then Polymerase Chain Reactions (PCR were made. PCR products were separated in 2% agarose gel.Results:No patient had either the 4977 bp deletion or the 7400 bp deletion in their NP tissue, and neither were these deletions evident in their peripheral blood. Two control sequences, one of them from a non-deleted region, and the other from a possible deletion region, were detected in the NP tissues and peripheral blood of all the patients.Conclusions:We had anticipated that some mtDNA deletion might have occurred in NP tissue due to the increased ROS levels caused by chronic inflammation, but we did not detect any deletion. Probably, the duration of inflammation in NP is insufficient to form mt

  12. Adenomatous Polyps in Adolescent Girl and Boy: A Report of Two Cases

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    Laleh Vahedi Larijani

    2016-01-01

    Full Text Available A polyp is defined as a mass of the mucosal surface that protrudes into the lumen of the gastrointestinal tract. Neoplastic epithelial polyps are classified histologically as either benign adenoma or malignant carcinoma. The colonic polyps that most commonly present in children occur sporadically and individually and are of the juvenile type; they are most frequently associated with painless rectal hemorrhage (which is the most common symptom. Adenomatous polyps are similar to other nontumoral polyps, and it is very rare for children to have symptoms other than rectal bleeding. This report describes two rare cases of polyps in pediatric patients. An 11-year-old girl presented with tubulovillous adenoma and a 13-year-old boy with tubular adenoma; both patients complained of rectal hemorrhage as well as anemia and abdominal pain. Epithelial adenoma is a tumor that is rarely found in adults or children. Colonoscopic perforation and biopsy are mandatory for establishing a definitive diagnosis and avoiding medical mismanagement.

  13. Stat6 Promotes Intestinal Tumorigenesis in a Mouse Model of Adenomatous Polyposis by Expansion of MDSCs and Inhibition of Cytotoxic CD8 Response

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    Asha Jayakumar

    2017-08-01

    Full Text Available Intestinal tumorigenesis in the ApcMin/+ model is initiated by aberrant activation of Wnt pathway. Increased IL-4 expression in human colorectal cancer tissue and growth of colon cancer cell lines implied that IL-4–induced Stat6-mediated tumorigenic signaling likely contributes to intestinal tumor progression in ApcMin/+ mice. Stat6 also appears to promote expansion of myeloid-derived suppressor cells (MDSCs cells. MDSCs promote polyp formation in the ApcMin/+ model. Hence, Stat6 could have a broad role in coordinating both polyp cell proliferation and MDSC expansion. We found that IL-4–induced Stat6-mediated proliferation of intestinal epithelial cells is augmented by platelet-derived growth factor–BB, a tumor-promoting growth factor. To determine whether polyp progression in ApcMin/+ mice is dependent on Stat6 signaling, we disrupted Stat6 in this model. Total polyps in the small intestine were fewer in ApcMin/+ mice lacking Stat6. Furthermore, proliferation of polyp epithelial cells was reduced, indicating that Stat6 in part controlled polyp formation. Stat6 also promoted expansion of MDSCs in the spleen and lamina propria of ApcMin/+ mice, implying regulation of antitumor T-cell response. More CD8 cells and reduced PD-1 expression on CD4 cells correlated with reduced polyps. In addition, a strong CD8-mediated cytotoxic response led to killing of tumor cells in Stat6-deficient ApcMin/+ mice. Therefore, these findings show that Stat6 has an oncogenic role in intestinal tumorigenesis by promoting polyp cell proliferation and immunosuppressive mediators, and preventing an active cytotoxic process.

  14. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

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    Tops Carli MJ

    2009-06-01

    Full Text Available Abstract Background MUTYH-associated polyposis (MAP is a recessively inherited disorder which predisposes biallelic carriers for a high risk of polyposis and colorectal carcinoma (CRC. Since about one third of the biallelic MAP patients in population based CRC series has no adenomas, this study aimed to identify specific clinicopathological characteristics of MAP CRCs and compare these with reported data on sporadic and Lynch CRCs. Methods From 44 MAP patients who developed ≥ 1 CRCs, 42 of 58 tumours were analyzed histologically and 35 immunohistochemically for p53 and beta-catenin. Cell densities of CD3, CD8, CD57, and granzyme B positive lymphocytes were determined. KRAS2, the mutation cluster region (MCR of APC, p53, and SMAD4 were analyzed for somatic mutations. Results MAP CRCs frequently localized to the proximal colon (69%, 40/58, were mucinous in 21% (9/42, and had a conspicuous Crohn's like infiltrate reaction in 33% (13/40; all of these parameters occurred at a higher rate than reported for sporadic CRCs. Tumour infiltrating lymphocytes (TILs were also highly prevalent in MAP CRCs. Somatic APC MCR mutations occurred in 14% (5/36 while 64% (23/36 had KRAS2 mutations (22/23 c.34G>T. G>T tranversions were found in p53 and SMAD4, although the relative frequency compared to other mutations was low. Conclusion MAP CRCs show some similarities to micro-satellite unstable cancers, with a preferential proximal location, a high rate of mucinous histotype and increased presence of TILs. These features should direct the practicing pathologist towards a MAP aetiology of CRC as an alternative for a mismatch repair deficient cause. High frequent G>T transversions in APC and KRAS2 (mutated in early tumour development but not in P53 and SMAD4 (implicated in tumour progression might indicate a predominant MUTYH effect in early carcinogenesis.

  15. Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer

    DEFF Research Database (Denmark)

    Ripa, R S; Katballe, N; Wikman, F P

    2005-01-01

    The diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) is often confirmed by a mutation in one of several mismatch-repair genes, in particular MLH1, MSH2 and MSH6. Presymptomatic diagnosis requires the identification of a mutation causing the disease. Three different deletions......, identified after mutation screening of MSH2 and MLH1. All patients in the families were haplotyped using markers flanking the MSH2 gene. The haplotypes revealed that the five families with high probability descended from only two founders. The N596del segregated with the HNPCC phenotype with lod scores of 3...

  16. Renal Cell Carcinoma with Unusual Metastasis to the Small Intestine Manifesting as Extensive Polyposis: Successful Management with Intraoperative Therapeutic Endoscopy

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    Pankaj G. Vashi

    2011-08-01

    Full Text Available We present here a rare clinical case of a 53-year-old gentleman with metastasis from renal cell carcinoma (RCC to the small intestine presenting with extensive polyposis and massive gastrointestinal bleeding which was successfully managed with intraoperative endoscopic polypectomy and segmental small bowel resection. The patient presented with melena 2 weeks after right nephrectomy for RCC. Capsule endoscopy found extensive polyposis throughout the small bowel, and the histological features confirmed the diagnosis of metastatic RCC. The patient eventually underwent laparotomy with intraoperative endoscopy of the entire small bowel. Most of the polyps were removed by snare polypectomy. Three segments of the small bowel with extensive transmural involvement had to be resected with primary anastomosis. In the 2 months following his surgery, the patient had no further evidence of gastrointestinal bleeding. The decision of meticulously removing close to 100 polyps by intraoperative endoscopy prevented the patient from requiring total small bowel resection and lifelong dependence on parenteral nutrition. In conclusion, gastrointestinal bleeding in a patient with known RCC should always trigger full gastrointestinal work-up including capsule endoscopy and, if necessary, double balloon enteroscopy.

  17. Transformation of the maxillary bone in adults with nasal polyposis: a CT morphometric study.

    Science.gov (United States)

    Serter, Selim; Günhan, Kivanç; Can, Fatma; Pabuşçu, Yüksel

    2010-06-01

    Nasal polyposis (NP) in adult population is a common problem in otorhinolaryngology outpatient practice. Computed tomography (CT) is the ideal imaging method to investigate paranasal sinus diseases. There is yet no study in the literature measuring the morphometry of maxillary bone in NP. The objectives of this study are to correlate the airway variables obtained by CT findings of both chronic nasal airway obstruction and control group in an adult population, and to investigate whether the bony structure of the airway is affected or not. Forty NP cases that were followed up for 1-5 years by an otorhinolaryngologist were included in this retrospective study. Forty subjects who had normal findings reported on paranasal CT scans were randomly selected from our CT database as the control group. Maxillary and palatine bones (PB) were evaluated: the plane angle between the maxillary alveolar processes (MAP) and PB, and depth of the maxillary arch of both groups were compared. The mean angle between MAP and PB plane was wider in the NP group (right 128.1 +/- 8.5 degrees and left 126.2 +/- 8.5 degrees ) than control group (right 106.6 +/- 8.1 degrees and left 105.5 +/- 7.3 degrees). The mean depth of maxillary arch was significantly smaller in the NP group (1.2 +/- 0.2 cm) than in the control group (1.4 +/- 0.2 cm). There could be a relationship between nasal polyposis in adults and maxillary shape. The flattening and shallowing of the maxillary arch detected in patients with NP may indicate that the bony structural changes continue in adulthood.

  18. IL-21 Is Increased in Nasal Polyposis and after Stimulation with Staphylococcus aureus Enterotoxin B.

    Science.gov (United States)

    Calus, Lien; Derycke, Lara; Dullaers, Melissa; Van Zele, Thibaut; De Ruyck, Natalie; Pérez-Novo, Claudina; Holtappels, Gabriele; De Vos, Geert; Lambrecht, Bart N; Bachert, Claus; Gevaert, Philippe

    2017-01-01

    Chronic rhinosinusitis with nasal polyposis (CRSwNP) is an inflammatory disease associated with lymphoid aggregates and local IgE production related to Staphylococcus aureus enterotoxins. T-follicular helper cells and their effector cytokine interleukin (IL)-21 play an important role in germinal center proliferation. IL-21 was determined on the mRNA level by qPCR in nasal tissue of 3 groups of patients: control (n = 17), chronic rhinosinusitis without nasal polyposis (CRSsNP; n = 23), and CRSwNP (n = 35). The expression of IL-21 by CD4+ T cells was analyzed in tissue at baseline and after 24-h stimulation of tissue fragments with S. aureus enterotoxin B (SEB) using flow cytometry. Finally, human nasal IL-21+CXCR5+CD4+ T cells were isolated and coincubated with human blood naive B cells to investigate their functionality. IL-21 mRNA expression was increased in the CRSwNP group (p B-cell lymphoma-6 and B-lymphocyte-induced maturation protein-1 were upregulated in CRSwNP versus CRSsNP. Furthermore, SEB was able to increase IL-21 mRNA expression significantly (p B cells. IL-21- and IL-21-producing CD4+ T cells were increased in CRSwNP. In addition, SEB induced an increase in IL-21 and IL-21+CD4+ T cells, suggesting that S. aureus can modulate the function of Tfh cells in nasal polyps. We speculate that T-follicular helper cells and IL-21 are important in the pathophysiology of CRSwNP. © 2017 S. Karger AG, Basel.

  19. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome.

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    Shaco-Levy, Ruthy; Jasperson, Kory W; Martin, Katie; Samadder, N Jewel; Burt, Randall W; Ying, Jian; Bronner, Mary P

    2016-03-01

    The morphologic features of the gastrointestinal polyps in hamartomatous polyposis syndromes are poorly defined. Our aim was to better characterize the gastrointestinal hamartomas in these syndromes. A blinded review was performed regarding many histologic features for every polyp. The study included 15 Cowden syndrome, 13 Peutz-Jeghers (PJS), 12 juvenile polyposis (JuvPS) patients, and 32 cases of sporadic hamartomatous polyps. A total of 375 polyps were examined. Cowden syndrome polyps were characteristically colonic, sessile, small, without surface erosion, and showing mildly inflamed fibrotic lamina propria with smooth muscle proliferation and lymphoid follicles. They showed the least degree of cystic glands and had no thick mucin. Uncommon but specific features were ganglion cells and nerve fibers within the lamina propria and mucosal fat. PJS polyps were typically of small or large bowel origin, often exophytic, seldom eroded, with inflamed edematous and fibrotic lamina propria and dilated cystic glands filled with often thick mucin. All PJS polyps showed smooth muscle proliferation, frequently widespread. The polyps of JuvPS were typically colonic, large, exophytic, eroded, with strikingly edematous, fibrotic markedly inflamed lamina propria, cystic glands filled with frequently thick mucin, and the least degree of smooth muscle proliferation. Nonsyndromic hamartomatous polyps were similar to JuvPS polyps; however, they were more often colonic, were smaller, showed more widespread smooth muscle proliferation, and were less likely to contain thick mucin. In conclusion, we were able to define the characteristic hamartomatous polyp for each hamartomatous polyposis syndrome. Awareness to these features may aid in the diagnosis of these rare syndromes. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Clinicopathological Characteristics of Serrated Polyposis Syndrome in Korea: Single Center Experience

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    Hyung-Keun Kim

    2015-01-01

    Full Text Available Background/Aim. Serrated polyposis syndrome (SPS is a rare condition characterized by multiple serrated polyps throughout the colon and rectum. The aim of this study was to evaluate the clinicopathological characteristics of SPS in Koreans. Methods. This retrospective analysis of prospectively collected data was performed using information from the endoscopy, clinical records, and pathology database system of Uijeongbu St. Mary’s Hospital. Consecutive patients satisfying the updated 2010 World Health Organization criteria for SPS between June 2011 and May 2014 were enrolled. Results. Of the 17,552 patients who underwent colonoscopies during the study period, 11 (0.06% met the criteria for SPS. The mean age of these patients was 55.6 years. Ten patients (91% were males. None had a family history of CRC or a first-degree relative with SPS. Seven patients (64% had synchronous advanced adenoma. One patient had coexistence of SPS with CRC that was diagnosed at the initial colonoscopy. Five patients (45% had more than 30 serrated polyps. One of the patients underwent surgery and 10 underwent endoscopic resection. Conclusion. The prevalence of SPS in this study cohort was comparable to that in Western populations. Considering the high risk of CRC, correct diagnosis and careful follow-up for SPS are necessary.

  1. Apoplexia hipofisária intradenomatosa Intra-adenomatous pituitary apoplexy

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    Flávio Freinkel Rodrigues

    1997-01-01

    Full Text Available Os autores analisam a literatura sobre apoplexia hipofisária intradenomatosa, enfocando a fisiopatologia, o diagnóstico e a conduta terapêutica. Estudam 5 casos , de uma série de 86 pacientes com tumores hipofisários que desenvolveram esta síndrome e que foram diagnosticados e acompanhados pelos serviços de Neurocirurgia e Endocrinologia do Hospital Universitário Clementino Fraga Filho da Universidade Federal do Rio de Janeiro. Todos os casos, a partir da suspeita clínica, tiveram o diagnóstico confirmado por estudo de tomografia computadorizada de crânio e/ou ressonância magnética de crânio. O tratamento de escolha foi cirúrgico. As conclusões apontam para as dificuldades diagnósticas desta situação clínica e da urgência na instituição da terapia.The authors review the literature on intra-adenomatous pituitary apoplexy with special emphasis on pathophysiology, diagnosis and therapeutic approach. They present five cases, from a series of 86 patients with pituitary tumors, that developed this syndrome. The patients were diagnosed and followed by the Neurosurgery and Endocrinology Services of Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro. Diagnosis was confirmed by CT-Scan and MRI in all cases , and the treatment of choice was surgical. Conclusions point to the diagnostic difficulties and the urgency of treatment in this clincal setting.

  2. Paraneoplastic leukocytosis associated with a rectal adenomatous polyp in a dog.

    Science.gov (United States)

    Thompson, J P; Christopher, M M; Ellison, G W; Homer, B L; Buchanan, B A

    1992-09-01

    A dog with a rectal adenomatous polyp had extreme neutrophilic leukocytosis, monocytosis, and eosinophilia consistent with a paraneoplastic syndrome. Resolution of the leukogram abnormalities after tumor excision supported this belief. Except for a lack of circulating myeloblasts, the dog had leukogram findings consistent with a neutrophilic leukemoid reaction.

  3. Diagnostic value of combined versus individual MRI parameters in distinguishing adenomatous from non-adenomatous adrenal lesions in cancer patients

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    Sally Emad-Eldin

    2014-09-01

    Conclusion: The most specific predictors for adrenal mass characterization were CSI signal drop and Gd-DTPA enhancement characteristics. Combining the MR parameters did not prove superior to those two individual parameters, however it yielded a valuable diagnostic protocol for distinguishing the adrenal masses, considering that size criterion should not be used as an individual discriminator.

  4. Multiple lymphomatous polyposis of the gastrointestinal tract ; report of three cases

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Jay Hong; Chang, Jay Chun; Cho, Jae Ho [Yeungnam University, Taegu (Korea, Republic of). Coll. of Medicine

    1998-05-01

    In 1961, Cornes first introduced the term multiple lymphomatous polyposis (MLP), and since then, this very rare disease has been considered as a malignant lymphoma originating in the mantle zone of gastrointestinal lymphoid tissue. MLP presents with a 0.5-2.0 cm sized polypoid tumor, which affects long segments of the alimentary tract and frequently invades the mesenteric lymph nodes. It often consists of a dominant mass rather than polyps. We describe three cases of endoscopically proven multiple lymphomatous polyposis, and include a review of the literature. In differentiating multiple lymphomatous polyposis and other types of multiple polyposis in the gastrointestinal tract, the following features are helpful : the smooth surface of polyps, which is similar to a gem seen during a barium examination; the typical appearance of a gastric submucosal tumor and hypertrophied gastric mucosal folds in UGI; the presence of enlarged lymph nodes, as seen on abdominal CT scanning. (author). 9 refs., 2 tabs., 3 figs.

  5. Hereditary non-polyposis colorectal cancer : Identification of mutation carriers and assessing pathogenicity of mutations

    NARCIS (Netherlands)

    Niessen, RC; Sijmons, RH; Berends, MJW; Ou, J; Hofstra, RNW; Kleibeuker, JH

    2004-01-01

    Hereditary non-polyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is an autosomal dominantly inherited disorder that is characterized by susceptibility to colorectal cancer and extracolonic malignancies, in particular endometrial cancer. HNPCC is caused by pathogenic mutations

  6. Mantle Cell Lymphoma of the Gastrointestinal Tract (Lymphomatous Polyposis

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    Hugh James Freeman

    1996-01-01

    Full Text Available A74-year-old male with a history of a tonsillar lymphoma developed diarrhea. Investigations led to detection of extensive intestinal lymphomatous polyposis (mantle cell lymphoma. After an aggressive clinical course with associated nodal and peripheral blood involvement, death followed within three months. Postmortem studies revealed widespread dissemination within the entire gastrointestinal tract, including the esophagus, stomach, and small and large intestines. Although this type of lymphoma is rare and accounts for only about 1% to 8% of all forms of primary B cell gastrointestinal lymphomas in North America, separation from other subtypes has become more important because of reported responses of mucosa-associated lymphoid tissue-lymphomas to antibiotics aimed at Helicobacter pylori eradication.

  7. Multiple intestinal lymphomatous polyposis in a Jindo dog

    Science.gov (United States)

    Jeong, Da-Hee; Do, Sun-Hee; Hong, Il-Hwa; Yang, Hai-Jie; Yuan, Dong-Wei; Choi, Dong-Hag

    2006-01-01

    A male, 5-year-old Jindo dog underwent enterectomy and enteroanastomosis due to ileus of the intestine at a local veterinary hospital. Grossly, the excised intestine showed markedly thickened multinodular masses in the serosal layer of the upper part, and soft-to-firm, cream-colored neoplastic masses that displayed extensive nodular mucosal protuberances into the lumen. The neoplastic masses were filled with large round cells that were ovoid in shape and they had pale and/or hyperchromatic nuclei. The neoplastic cells had mainly infiltrated into the mucosal and submucosal layers, and they had diffusely invaded the muscular and serosal layers. Therefore, the diagnosis of canine multiple intestinal malignant lymphomatous polyposis was made based on the gross and histopathological findings. The origin of these tumor cells was determined to be B-cells since they were positive for anti-CD20. PMID:17106235

  8. Challenging diagnostic issues in adenomatous polyps with epithelial misplacement in bowel cancer screening: 5 years' experience of the Bowel Cancer Screening Programme Expert Board.

    Science.gov (United States)

    Griggs, Rebecca K L; Novelli, Marco R; Sanders, D Scott A; Warren, Bryan F; Williams, Geraint T; Quirke, Philip; Shepherd, Neil A

    2017-02-01

    The diagnostic difficulties of differentiating epithelial misplacement from invasive cancer in colorectal adenomatous polyps have been recognised for many years. Nevertheless, the introduction of population screening in the UK has resulted in extraordinary diagnostic problems. Larger sigmoid colonic adenomatous polyps, which are those most likely to show epithelial misplacement, are specifically selected into such screening programmes, because these polyps are likely to bleed and screening is based on the detection of occult blood. The diagnostic challenges associated with this particular phenomenon have necessitated the institution of an 'Expert Board': this is a review of the first five years of its practice, during which time 256 polyps from 249 patients have been assessed. Indeed, the Expert Board contains three pathologists, because those pathologists do not necessarily agree, and a consensus diagnosis is required to drive appropriate patient management. However, this study has shown substantial levels of agreement between the three Expert Board pathologists, whereby the ultimate diagnosis has been changed, from that of the original referral diagnosis, by the Expert Board for half of all the polyps, in the substantial majority from malignant to benign. In 3% of polyp cases, the Expert Board consensus has been the dual diagnosis of both epithelial misplacement and adenocarcinoma, further illustrating the diagnostic difficulties. The Expert Board of the Bowel Cancer Screening Programme in the UK represents a unique and successful development in response to an extraordinary diagnostic conundrum created by the particular characteristics of bowel cancer screening. © 2016 John Wiley & Sons Ltd.

  9. [Hereditary colonic carcinoma without polyposis (HNPCC) without satisfying the Amsterdam criteria].

    Science.gov (United States)

    Kastl, S; Günther, K; Merkel, S; Hohenberger, W; Ballhausen, W G

    2000-04-01

    Epidemiologic data suggest that an underlying genetic disposition can be detected in up to 10% of all colorectal cancer patients and autosomal dominantly inherited hereditary non-polyposis colorectal cancer (HNPCC) is the entity most frequently identified. It was described first by A. Warthin in 1895 in "Family G" and is characterized by a predisposition to an early onset of colorectal cancer and other intestinal or genitourinary tumors. We report the case of a 61-year-old woman with five different cancers. Although the strict Amsterdam Criteria were not fulfilled, molecular analysis revealed HNPCC; further genetic testing in the family confirmed that the 36-year-old and so far healthy son had inherited the germline mutation of his affected mother. Genetic testing in clinically suspected HNPCC cases is recommended for patients with colorectal cancer meeting the Amsterdam Criteria. In patients meeting one of Bethesda Criteria 2-7 without meeting the Amsterdam Criteria, germline mutation analysis is recommended only in MSI-positive tumors.

  10. Analysis of hypermethylation and expression profiles of APC and ATM genes in patients with oral squamous cell carcinoma

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    Rigi-Ladiz Mohammad

    2011-11-01

    Full Text Available Abstract Background Adenomatous polyposis coli (APC and Ataxia-telangiectasia-mutated (ATM gene products have an important role in cell cycle control and maintenance of genomic stability. Our aim was to analyze ATM and APC methylation and its relationship with oral squamous cell carcinoma (OSCC. Materials and methods Eighty-four OSCC tissues that have been fixed in paraffin along with 57 control oral samples have been used for analyzing promoter methylation of ATM and APC genes by Methylation Specific Polymerase Chain Reaction (MS-PCR. In addition, 10 cases of OSCC and the same of matched controls were examined for estimating expression of the above mentioned genes using Real-Time Reverse-Transcription PCR. Results Observed promoter methylations were 71.42% and 87.71% for the APC gene and 88.09% and 77.19% for the ATM gene in cases and controls, respectively. Analysis of these data showed that promoter methylation at APC was significantly different in cases compared to healthy controls (p = 0.01, but no difference was detected for the ATM gene. Furthermore, the mRNA expression levels did not differ statistically between cases and controls for both ATM (cases = 9, controls = 10 and APC (cases = 11, controls = 10 genes. Conclusions Our results, for the first time, provide methylation profiles of ATM and APC genes in a sample of patients with OSCC in a southeast Iranian population. The present data support related evidence of APC methylation effect on OSCC development.

  11. A new conditional Apc-mutant mouse model for colorectal cancer

    NARCIS (Netherlands)

    E.C. Robanus-Maandag (Els); P.J. Koelink (Pim); C. Breukel (Cor); D.C.F. Salvatori (Daniela); S.C. Jagmohan-Changur (Shantie); C.A.J. Bosch (Cathy); H.W. Verspaget; P. Devilee (Peter); R. Fodde (Riccardo); M.J.M. Smits (Ron)

    2010-01-01

    textabstractMutations of the adenomatous polyposis coli (APC) gene predispose individuals to familial adenomatous polyposis (FAP), characterized by multiple tumours in the large intestine. Most mouse models heterozygous for truncating mutant Apc alleles mimic FAP, however, the intestinal tumours

  12. Total colectomy for cancer: analysis of factors linked to patients' age.

    Science.gov (United States)

    Carlomagno, Nicola; Santangelo, Michele L; Amato, Bruno; Calogero, Armando; Saracco, Michele; Cremone, Cristiano; Miranda, Agnese; Dodaro, Concetta; Renda, Andrea

    2014-01-01

    Total colectomy (TC) is a valid option for cancer treatment in selected cases. Emergency presentation, association to familial adenomatous polyposis (FAP) or intestinal bowel disease (IBD), hereditary non-polyposis cancer (HNPCC), and synchronous tumors are the common indications to TC for cancer. Despite potential high morbidity and mortality rates for worse general health conditions of the advanced age it has even suggested for elderly patients. We reviewed our experience to analyze the current role of TC comparing different results between young and elderly patients. During the period 1990-2012, 76 patients were operated on TC for cancer. Patients were divided in two groups according to the age [65 years old - group B (elderly)] and were compared their systemic and surgical complication, considering the presence of comorbidities, ASA score, lifestyle habits, elective or emergency presentation. Morbidity rate was 7.7% and 38.8% in young and elderly patients respectively. 21 systemic complications (3 in group A and 18 in group B) occurred in 17 patients (22.36%) (with the coexistence of two complications in 4 patients belonging to the group B. There were 6 surgical complications (7.9%) (3 in group A and 3 in group B): anastomotic leakage 3, major wound infections 2, postoperative bleeding 1; no intra-abdominal abscess were observed. In 2 cases (2.6%) (1 anastomotic leak and 1 intra-abdominal postoperative hemorrhage) was needed a reoperation. We observed only 2 deaths in the elderly. High ASA score and emergency were associated with worst results. Systemic complications were more frequent in elderly patients cause of significant comorbidities, while the incidence of surgical complications was similar and according to literature. Besides the classic indications, it is a viable surgical option also in cancer associated with complicated diverticulitis. Our data show that TC is a safe and effective procedure providing good results even in elderly patients, when

  13. Conjugated bile acids in gallbladder bile and serum as potential biomarkers for cholesterol polyps and adenomatous polyps.

    Science.gov (United States)

    Zhao, Mei-Fen; Huang, Peng; Ge, Chun-Lin; Sun, Tao; Ma, Zhi-Gang; Ye, Fei-Fei

    2016-02-28

    To identify conjugated bile acids in gallbladder bile and serum as possible biomarkers for cholesterol polyps (CPs) and adenomatous polyps (APs). Gallbladder bile samples and serum samples were collected from 18 patients with CPs (CP group), 9 patients with APs (AP group), and 20 patients with gallstones (control group) from March to November, 2013. High performance liquid chromatography (HPLC) assay with ultraviolent detection was used to detect the concentration of 8 conjugated bile acids (glycocholic acid, GCA; taurocholic acid, TCA; glycochenodeoxycholic acid, GCDCA; taurochenodeoxycholic acid, TCDCA; glycodeoxycholic acid, GDCA; taurodeoxycholic acid, TDCA; taurolithocholic acid, TLCA; tauroursodeoxycholic acid, TUDCA) in bile samples and serum samples. The diagnostic efficacy of serum GCA, GCDCA and TCDCA was evaluated. These 8 conjugated bile acids in gallbladder bile and serum were completely identified within 10 minutes with good linearity (correlation coefficient: R>0.9900; linearity range: 3.91-500 µg/mL). Among these conjugated bile acids, the levels of gallbladder bile GCDCA and TCDCA in the CP group were significantly higher than those in the AP group (p<0.05). Furthermore, serum GCDCA and TCDCA as well as GCA were significantly higher in the AP group than the CP group (p<0.05). Serum GCDCA alone (≤12 µg/mL) had relatively better diagnostic efficacy than the other conjugated bile acids. The levels of serum GCA, GCDCA and TCDCA may be valuable for differentiation of APs and CPs.

  14. MSI-Testing in Hereditary Non-Polyposis Colorectal Carcinoma (HNPCC

    Directory of Open Access Journals (Sweden)

    Annegret Müller

    2004-01-01

    Full Text Available Genomic instability at simple repeated sequences, termed microsatellite instability (MSI, plays an important role in the analysis of sporadic and hereditary colon cancers. In hereditary non-polyposis colorectal cancer syndrome (HNPCC more than 90% of cases show MSI, whereas only 10–15% of sporadic colorectal cancers do so. Thus, microsatellite analysis is commonly used as the first diagnostic screening test for HNPCC. In 1997, an international collaborative workshop sponsored by the National Cancer Institute (NCI proposed a set of guidelines for MSI-testing to improve reliability and reproducibility of the analysis as well to allow comparisons between different studies and different laboratories. In this review we assess the value of current protocols forMSI-testing and discuss some diagnostic pitfalls. Our findings support continued use of the MSI marker panel recommended in 1997. Additionally, MSI-testing should be improved by use of microdissection, which helps to identify additional patients with MSI due to enrichment of tumor cells and therefore increased sensitivity. In our view, immunohistochemical staining for mismatch repair protein expression is not a substitute for MSI-analysis but complements MSI screening and helps direct further testing. In summary, MSI-analysis is a highly sensitive and reliable screening method for HNPCC, that requires a well-equipped laboratory as well as an experienced pathologist. Integration of family history and histo-pathological features is also critical.

  15. Cost utility analysis of endoscopic sinus surgery for chronic rhinosinusitis with and without nasal polyposis.

    Science.gov (United States)

    Scangas, George A; Remenschneider, Aaron K; Su, Brooke M; Shrime, Mark G; Metson, Ralph

    2017-01-01

    To evaluate the cost-effectiveness of endoscopic sinus surgery (ESS) compared to medical therapy for patients with chronic rhinosinusitis (CRS) with and without nasal polyposis (NP). Cohort-style Markov decision-tree economic model with a 36-year time horizon. Two cohorts of 229 CRS patients with and without NP who underwent ESS were compared with a matched cohort of 229 CRS patients from the Medical Expenditures Survey Panel database (Agency for Healthcare Research and Quality, Rockville, MD) who underwent medical management. Utility scores were calculated from sequential patient responses to the EuroQol five-dimensions questionnaire. Decision-tree analysis and a 10-state Markov model utilized published event probabilities and primary data to calculate long-term costs and utility. The primary outcome was the incremental cost per quality-adjusted life year (QALY). Thorough sensitivity analyses were performed. The reference case for CRS with NP yielded an incremental cost-effectiveness ratio (ICER) for ESS versus medical therapy of $5,687.41/QALY. The reference case for CRS without NP yielded an ICER of $5,405.44/QALY. The cost-effectiveness acceptability curve in both cases demonstrated 95% certainty that the ESS strategy was the most cost-effective option at a willingness-to-pay threshold of $20,000/QALY or higher. These results were robust to one-way and probabilistic sensitivity analysis. This study demonstrates the cost-effectiveness of ESS compared to medical therapy alone for the management of CRS patients both with and without NP. The presence of nasal polyps was not found to affect the overall cost-effectiveness of ESS. 2C. Laryngoscope, 127:29-37, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  16. [HNPCC (hereditary non-polyposis colorectal cancer) or Lynch syndrome: a syndrome related to a failure of DNA repair system].

    Science.gov (United States)

    Manceau, Gilles; Karoui, Mehdi; Charachon, Antoine; Delchier, Jean-Charles; Sobhani, Iradj

    2011-03-01

    The HNPCC syndrome (hereditary non polyposis colon cancer) or Lynch syndrome stands for an autosomic dominant condition leading to the most prevalent hereditary colo-rectal cancers (CCR). MMR (mismatch repair)'s genes are involved in carcinogenesis as they play a role in ADNA mismatch repair. Microsatellite instability (MSI+ phenotype) induced by germline mutations is characteristic of such tumors and is necessary to assert the diagnosis. The HNPCC syndrome is associated with a significant increased risk of CCR altogether with endometrium, upper urinary tract and small bowel carcinomas as well as ovarian, biliary system and gastric cancers although of lesser extent. It is of importance to diagnose HNPCC syndrome prior to the treatment starts because it may influence patient's (as well as her/his relatives) disease management (type of surgery, surveillance and screening exams). New French recommendations, developed in 2009, about prophylactic colo-rectal and gynecologic surgeries and monitoring update latest ones published on 2004.

  17. Genetic polymorphism of antioxidant enzymes in eosinophilic and non-eosinophilic nasal polyposis.

    Science.gov (United States)

    Akyigit, Abdulvahap; Keles, Erol; Etem, Ebru Onalan; Ozercan, Ibrahim; Akyol, Hatice; Sakallioglu, Oner; Karlidag, Turgut; Polat, Cahit; Kaygusuz, Irfan; Yalcin, Sinasi

    2017-01-01

    Chronic rhinosinusitis with nasal polyps (CRSwNP) is a chronic inflammatory disease of the paranasal sinuses, and its pathophysiology is not yet precisely known. It is suggested that oxygen free radicals play an important role in the pathogenesis of nasal polyposis. This study aimed to identify genetic polymorphisms of superoxide dismutase (SOD 2), catalase (CAT), and inducible nitric oxide synthase (iNOS) enzymes in eosinophilic CRSwNP and non-eosinophilic CRSwNP patients; the study also aimed to evaluate the effect of genetic polymorphism of antioxidant enzymes on CRSwNP etiopathogenesis. One hundred thirty patients, who received endoscopic sinus surgery due to CRSwNP, and 188 control individuals were included in this study. Nasal polyp tissues were divided into two groups histopathologically as eosinophilic CRSwNP and non-eosinophilic CRSwNP. Venous blood samples were taken from the patient and control groups. Polymorphisms in the Ala16Va1 gene, which is the most common variation of SOD-2 gene, and 21 A/T polymorphisms in catalase gene were evaluated with the restriction fragment length polymorphism method and -277 C/T polymorphism in the iNOS gene was evaluated with the DNA sequencing method. The GG genotype distribution for the (-277) A/G polymorphism in the iNOS gene was a statistically significant difference between eosinophilic CRSwNP and control groups (p polymorphism was not statistically significant in all groups (p > 0.05). The TT genotype distribution for the A/T polymorphism in catalase gene at position -21 was statistically significant differences in eosinophilic CRSwNP and control groups (p polymorphism of enzymes in the antioxidant system and genetic polymorphism of antioxidant enzymes in eosinophilic CRSwNP patients might contribute to the pathophysiology.

  18. Association between family history of malignant neoplasm with colorectal adenomatous polyp in 40s aged relative person.

    Science.gov (United States)

    Lee, Su Young; Shin, Aesun; Kim, Byung Chang; Lee, Jeong Hee; Han, Kyung Su; Hong, Chang Won; Sohn, Dae Kyung; Park, Sung Chan; Chang, Hee Jin; Oh, Jae Hwan

    2014-10-01

    We assessed the association between a family history of malignancy and risk of colorectal adenoma among individuals aged 40-49 years. The study population consisted of subjects, aged in their 40s, who underwent colonoscopy. Their family histories of cancer were collected with a self-administered questionnaire. A logistic regression model was used to assess the association between a family history of cancer and the risk of colorectal polyp. In total, 2275 participants were included in the study. Univariate analysis showed that old age, male sex, current cigarette smoking, BMI>25 kg/m(2), and a family history of colorectal cancer (CRC) were risk factors for the development of sporadic colorectal adenomatous polyps in these patients. A multivariate analysis showed that a family history of CRC or kidney cancer was associated with adenoma development. A family history of CRC was also a risk factor for advanced and multiple adenoma. This study shows that a family history of CRC is a risk factor for advanced and multiple colorectal adenoma in people in their 40s. These results support earlier screening for colorectal neoplasms in individuals with a family history of CRC. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions.

    Science.gov (United States)

    Kravochuck, Sara E; Church, James M

    2017-12-01

    Hereditary non-polyposis colorectal cancer (HNPCC) is defined by family history, and Lynch syndrome (LS) is defined genetically. However, universal tumour testing is now increasingly used to screen for patients with defective mismatch repair. This mixing of the results of family history, tumour testing and germline testing produces multiple permutations and combinations that can foster confusion. We wanted to clarify hereditary colorectal cancer using the three dimensions of classification: family history, tumour testing and germline testing. Family history (Amsterdam I or II criteria versus not Amsterdam criteria) was used to define patients and families with HNPCC. Tumour testing and germline testing were then performed to sub-classify patients and families. The permutations of these classifications are applied to our registry. There were 234 HNPCC families: 129 had LS of which 55 were three-dimensional Lynch (family history, tumour testing and germline testing), 66 were two-dimensional Lynch and eight were one-dimensional Lynch. A total of 10 families had tumour Lynch (tumours with microsatellite instability or loss of expression of a mismatch repair protein but an Amsterdam-negative family and negative germline testing), five were Lynch like (Amsterdam-positive family, tumours with microsatellite instability or loss of expression of a mismatch repair protein on immunohistochemistry but negative germline testing), 26 were familial colorectal cancer type X and 95 were HNPCC. Hereditary colorectal cancer can be confusing. Sorting families in three dimensions can clarify the confusion and may direct further testing and, ultimately, surveillance. © 2016 Royal Australasian College of Surgeons.

  20. Restorative proctocolectomy with an ileoanal pouch. Postoperative course and long-term functional results

    DEFF Research Database (Denmark)

    Walker, L.R.; Bulow, S.

    2008-01-01

    INTRODUCTION: Over the last 25 years restorative proctocolectomy with an ileoanal pouch has been the gold standard in the surgical treatment of ulcerative colitis and in selected patients with familial adenomatous polyposis. We present a study of the course, complications and long-term functional...... course and long-term follow-up were managed by few specialists in ileoanal pouch surgery. In our opinion restorative proctocolectomy with an ileoanal pouch is still the gold standard for patients with ulcerative colitis and for selected patients with familial adenomatous polyposis Udgivelsesdato: 2008/5/12...

  1. Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation

    NARCIS (Netherlands)

    Rijcken, FEM; Hollema, H; Kleibeuker, JH

    Background: Hereditary non-polyposis colorectal cancer (HNPCC) is thought to arise from adenomas. HNPCC mostly occurs in the proximal colon. We investigated whether this proximal preponderance is due to a proximal preponderance of adenomas or (also) differences in transformation rates from adenomas

  2. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

    NARCIS (Netherlands)

    Vasen, H.F.; Moslein, G.; Alonso, A.; Bernstein, I.; Bertario, L.; Blanco, I.; Burn, J.; Capella, G.; Engel, C.; Frayling, I.; Friedl, W.; Hes, F.J.; Hodgson, S.; Mecklin, J.P.; Moller, P.; Nagengast, F.M.; Parc, Y.; Renkonen-Sinisalo, L.; Sampson, J.R.; Stormorken, A.; Wijnen, J.

    2007-01-01

    Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. The discovery of these genes, 15 years ago,

  3. The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC)

    NARCIS (Netherlands)

    Vasen, HFA; Sanders, EACM; Taal, BG; Nagengast, FM; Griffioen, G; Menko, FH; Kleibeuker, JH; HouwingDuistermaat, JJ; Khan, PM

    1996-01-01

    Hereditary non-polyposis colorectal cancer (HNPCC) is known to be associated with several extracolonic cancers, e.g., cancers of the endometrium, stomach, urinary tract, small bowel and ovary. An association between HNPCC and brain tumours has also been reported, although previous risk analysis did

  4. β-Catenin activation in fundic gland polyps, gastric cancer and colonic polyps in families afflicted by 'gastric adenocarcinoma and proximal polyposis of the stomach' (GAPPS).

    Science.gov (United States)

    McDuffie, Lucas A; Sabesan, Arvind; Allgäeuer, Michael; Xin, Liqiang; Koh, Christopher; Heller, Theo; Davis, Jeremy L; Raffeld, Mark; Miettienen, Markku; Quezado, Martha; Rudloff, Udo

    2016-09-01

    To evaluate possible colon involvement in the 'gastric adenocarcinoma and proximal polyposis of the stomach' (GAPPS) gastrointestinal polyposis syndrome. Prospective clinicopathological evaluation of two GAPPS families and expression of nuclear β-catenin, p53 and Ki67 measured by immunohistochemistry on endoscopic and surgical specimens from patients with GAPPS. Patients with the GAPPS phenotype were more frequently affected by colonic polyps than patients at risk within the same families (pgastric cancers including increased expression of nuclear β-catenin, Ki67 and p53. Both gastric and colonic lesions harboured activating somatic variants of β-catenin signalling. Similarities in expression markers in fundic gland and colonic polyps, together with an enrichment of colonic adenomas in family members affected by GAPPS phenotype compared with family members at risk, support mild colonic involvement of this rare cancer syndrome. Colonoscopic screening might be warranted. #09-C-0079; Results. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  5. Molecular genetic approach for screening of hereditary non-polyposis colorectal cancer

    Directory of Open Access Journals (Sweden)

    Metka Ravnik-Glavač

    2005-07-01

    Full Text Available Background: The main goal of knowledge concerning human diseases is to transfer as much as possible useful information into clinical applications. Hereditary non-polyposis colorectal cancer (HNPCC is the most common autosomal dominant inherited predisposition for colorectal cancer, accounting for 1–2% of all bowel cancer. The only way to diagnose HNPCC is by a family history consistent with the disease defined by International Collaborative Group on HNPCC (Amsterdam criteria I and II. The main molecular cause of HNPCC is a constitutional mutation in one of the mismatch repair (MMR genes. Since HNPCC mutations have been detected also in families that did not fulfil the Amsterdam criteria, molecular genetic characteristics of HNPCC cancers have been proposed as valuable first step in HNPCC identification. Microsatellite instability is present in about 90% of cancers of HNPCC patients. However, of all MSI colorectal cancers 80– 90% are sporadic. Several molecular mechanisms have been uncovered that enable distinguishing to some extent between sporadic and HNPCC cancers with MSI including hypermethylation of hMLH1 promoter and frequent mutations in BAX and TGFBR2 in sporadic CRC with MSI-H.Conclusions: The determination of MSI status and careful separation of MSI positive colorectal cancer into sporadic MSIL, sporadic MSI-H, and HNPCC MSI-H followed by mutation detection in MMR genes is important for prevention, screening and management of colorectal cancer. In some studies we and others have already shown that large-scale molecular genetic analysis for HNPCC can be done and is sensitive enough to approve population screening. Population screening includes also colonoscopy which is restricted only to the obligate carriers of the mutation. This enables that the disease is detected in earlier stages which would greatly decrease medical treatment costs and most importantly decrease mortality. In Slovenia we have started population screening based

  6. [Histologic and immunologic study of recurring endonasal polyposis in relation to desensitization therapy].

    Science.gov (United States)

    Alonso, A; Prestisimone, R E; Trotta, M; Vaela, M R

    1976-01-01

    Ten middle-aged patients (7 males and 3 females) suffering allergic rhinitis and endonasal polyposis, were polypectomized and studied with allergoimmunologic techniques. Clinical evaluation preceded laboratory examinations consisting in routine data and electrophoretic study of serum proteins. These examinations were performed before and after one-year hyposensitization treatment. One patient revealed a hypogammaglobulinemia and received 800 mg of commercial human gammaglobulin every 28 days, during 3 months; subsequent proteinograms showed acceptable improvement of the initial value. Skin tests resulted positive in all patients particularly to house dust, micotic (Candida albicans, Trycophyton and Alternaria) and bacterial antigens (Gram positive and negative bacteria). Specific hyposensitization was performed throughout one year with weekly subcutaneous injections of the corresponding antigens. No autovaccine of nasal exudates was employed. All the polyps were divided into two parts; one half for histological study and the other half stored at -20 degrees C for protein determination using immunoelectrophoresis, polyacrilamide gel and radial immunodiffusion. Immunoelectrophoresis was performed with polyps homo-genate against an antihuman serum and showed two precipitin lines at alfa-1 and beta-1 globulin sites. Polyacrilamide gel revealed more lines in those runs belonging to post-vaccinated polyps than in those belonging to the prevaccinated group. Immunoquant polyps were checked against anti-A, anti-G and anti-M; only IgA was detected in polyps obtained at any time. These apparently contradictory results may be due to the different sensitivity of the techniques applied as well as the small amount of polyps homogenate and its low protein content. New polyps reappeared in three patients at six, ten and twelve months, respectively, from the beginning of the treatment. These patients were again polypectomized and histological and immunological studies were repeated

  7. The differentially mutational spectra of the APC, K-ras, and p53 genes in sporadic colorectal cancers from Taiwanese patients.

    Science.gov (United States)

    Wang, Jaw-Yuan; Hsieh, Jan-Sing; Lu, Chien-Yu; Yu, Fang-Jung; Wu, Jeng-Yih; Chen, Fang-Ming; Huang, Che-Jen; Lin, Shiu-Ru

    2007-12-01

    Adenomatous polyposis coli (APC), K-ras and p53 gene mutations are the most common genetic alterations present in colorectal cancer (CRC). The aim of this study was to analyze tumor mutation frequencies and spectra in a large cohort of Taiwanese patients with CRC. APC, K-ras, and p53 gene mutations in primary tumor tissues and their paired normal tissues of 123 CRC patients were detected by polymerase chain reaction-single strand conformation polymorphism analysis, followed by direct sequencing. Of these 123 CRC patients, 43.1%, 44.7%, 35% of tumor tissue specimens presented mutations in APC, K-ras, and p53 genes, respectively. Overall, gene mutations in APC, K-ras and/or p53 were present in 78% (96/123) of tumor tissues. Among 96 CRC patients harboring gene mutations, 49 (51%) contained mutations of at least two different genes and 47 (49%) contained mutations of one gene only. The most common combination of gene mutations was APC and K-ras mutations (21.9%), followed by K-ras and p53 mutations (12.5%) and then APC and p53 mutations (10.4%). In addition, there were only 6.3% (6/96) of tumor tissues from CRC patients simultaneously containing mutations of APC, K-ras and p53 genes. The most common mutation spectrum of these genes was missense mutations, at a frequency of 38.8%, 92.7% and 70.5% for APC, K-ras and p53 genes, respectively. These data support that the frequencies and patterns of somatic mutation of the APC, Kras and p53 genes in CRCs are considerably variable and distinct among populations, for which the interaction between exogenous environmental factors and endogenous gene alterations may be important determinants.

  8. DNA alterations of microsatellite DNA, p53, APC and K-ras in Chinese colorectal cancer patients.

    Science.gov (United States)

    Xu, Xin-Min; Qian, Jian-Chang; Cai, Zhe; Tang, Tao; Wang, Peng; Zhang, Ke-Hua; Deng, Zhou-Lu; Cai, Jian-Ping

    2012-07-01

      Colorectal cancer is one of the most rapidly increasing cancers in the world, and accumulation of alterations in oncogenes, tumour suppressor genes and mismatch repair (MMR) genes contributes to colorectal tumorigenesis. Thus, we investigated the alterations of 14 microsatellite loci adjacent to MMR genes, p53, adenomatous polyposis coli (APC) and K-ras in 52 Chinese patients with colorectal cancer.   We performed fluorescent polymerase chain reaction and capillary electrophoresis to analyse microsatellite instability (MSI) and loss of heterozygosity (LOH) in microsatellite loci, which included a panel of nine dinucleotide repeats and the Bethesda consensus panel. Additionally, we screened for mutations in exons 4-9 of p53 and the mutation cluster region (MCR) in APC by DHPLC. Codons 12, 13 and 61 in K-ras were analysed using direct sequencing. All variations were confirmed using clone sequencing.   The alteration frequency of microsatellite DNA was 55·8% (29/52). Among the microsatellites, five loci exhibited MSI and another nine loci exhibited LOH. The mutation rates of p53, APC and K-ras were 42·3%, 38·5% and 36·5%, respectively. All patients (n = 7) with liver metastasis had a mutation in p53, APC or K-ras. APC mutation was correlated with clinical stage and the presence of lymph node metastasis (P = 0·001 and P = 0·006, respectively). CONCLUSIONS>   A total of 80·8% of Chinese patients with colorectal cancer show variations in microsatellite DNA, p53, APC or K-ras. It appears that these microsatellite DNA alterations could be a new biomarker for colorectal cancer. © 2011 The Authors. European Journal of Clinical Investigation © 2011 Stichting European Society for Clinical Investigation Journal Foundation.

  9. Giant Filiform Polyposis not Associated with Inflammatory Bowel Disease: A Case Report.

    Science.gov (United States)

    Ponte, Rossella; Mastracci, Luca; Di Domenico, Stefano; Ferretti, Carlotta; De Cian, Franco; Fiocca, Roberto; Grillo, Federica

    2015-02-01

    Filiform polyposis (FP) is an uncommon cause of non-neoplastic and non-syndromic polyposis. Several hypotheses concerning its pathogenesis have been published. FP is most frequently associated with a post-inflammatory reparative process; indeed, the most frequent association is with inflammatory bowel disease (IBD). FP is characterized by one to hundreds of uniform, slender, arborizing, vermiform projections of the large bowel mucosa and submucosa lined by normal or inflamed colonic mucosa. The most common sites for these polyps are the transverse and descending colon. In this report we present a case of giant FP associated with locally invasive adenocarcinoma of the right colon in a 73-year-old man with no past medical history of IBD. Few of these cases have been reported in the literature, and out of the approximately 20 of such case reports only one other was associated with colorectal adenocarcinoma.

  10. Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

    LENUS (Irish Health Repository)

    O'Riordan, J M

    2010-06-01

    The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.

  11. [Association of brownish polyposis and diverticulosis in the sigmoid colon -- a case of mucosal prolapse syndrome].

    Science.gov (United States)

    Karácsony, Tibor; Joó, Judit; Berczi, Lajos; Antal, András

    2011-10-01

    The authors present a case of a 48 year-old man, who was diagnosed with several brownish sigmoid polyps of 1-2 cm size and diverticulosis on colonoscopy. Subsequently, laparoscopic sigmoid resection was carried out due to lower gastrointestinal bleeding. Histological examination revealed diverticulosis associated with polyposis. This rare entity is known in the literature as prolapse-type inflammatory polyp, which is a type of mucosal prolapse syndrome. The brownish discolouration was caused by hemosiderin deposition.

  12. Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.

    Science.gov (United States)

    Cohen, Stacey A; Laurino, Mercy; Bowen, Deborah J; Upton, Melissa P; Pritchard, Colin; Hisama, Fuki; Jarvik, Gail; Fichera, Alessandro; Sjoding, Britta; Bennett, Robin L; Naylor, Lorraine; Jacobson, Angela; Burke, Wylie; Grady, William M

    2016-02-01

    Lynch syndrome confers a hereditary predisposition to colorectal and other cancers. Universal tumor screening (UTS) for Lynch syndrome is recommended by several professional societies, but the implementation can be complex. This article describes the evaluation, process development, and initiation of Lynch syndrome UTS at a tertiary referral cancer center. A multidisciplinary team developed the new process design. Issues in 5 themes were noted: timing, funding, second-opinion patients, result processing, and the role of genetics providers. A committee approach was used to examine each issue for process-improvement development. The issues related to testing were addressed individually for the successful implementation of UTS at the institutional level. In the conventional-care period, 9 of 30 cases (30%) received Lynch syndrome screening, and 4 cases were referred to medical genetics. During the 6 months following the implementation of UTS, 32 of 44 patients (73%) received Lynch syndrome screening. The 13 unscreened patients all had identified reasons for nonscreening (eg, financial limitations). Ten patients were referred to medical genetics, which identified no new cases of Lynch syndrome, but a low-risk adenomatous polyposis coli (APC) variant was detected in 1 individual. The implementation of effective Lynch syndrome UTS can feasibly alter practice at the institutional level. This experience with the assessment and management of issues relevant to the successful implementation of a new clinical care paradigm based on emerging technology has implications for the uptake of advances across molecular oncology into clinical practice, and this is highly relevant in the current era of rapidly evolving genomic technology. © 2015 American Cancer Society.

  13. Thermal coagulation-induced changes of the optical properties of normal and adenomatous human colon tissues in vitro in the spectral range 400-1100 nm

    Energy Technology Data Exchange (ETDEWEB)

    Ao Huilan; Xing Da; Wei Huajiang; Gu Huaimin [MOE Key Laboratory of Laser Life Science and Institute of Laser Life Science, ina Normal University, Guangzhou 510631 (China); Wu Guoyong; Lu Jianjun [Department of Surgery, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080 (China)], E-mail: xingda@scnu.edu.cn

    2008-04-21

    The absorption coefficients, the reduced scattering coefficients and the optical penetration depths for native and coagulated human normal and adenomatous colon tissues in vitro were determined over the range of 400-1100 nm using a spectrophotometer with an internal integrating sphere system, and the inverse adding-doubling method was applied to calculate the tissue optical properties from diffuse reflectance and total transmittance measurements. The experimental results showed that in the range of 400-1100 nm there were larger absorption coefficients (P < 0.01) and smaller reduced scattering coefficients (P < 0.01) for adenomatous colon tissues than for normal colon tissues, and there were smaller optical penetration depths for adenomatous colon tissues than for normal colon tissues, especially in the near-infrared wavelength. Thermal coagulation induced significant increase of the absorption coefficients and reduced scattering coefficients for the normal and adenomatous colon tissues, and significantly reduced decrease of the optical penetration depths for the normal and adenomatous colon tissues. The smaller optical penetration depth for coagulated adenomatous colon tissues is a disadvantage for laser-induced thermotherapy (LITT) and photodynamic therapy (PDT). It is necessary to adjust the application parameters of lasers to achieve optimal therapy.

  14. Genetics of Colorectal Cancer (PDQ®)—Health Professional Version

    Science.gov (United States)

    Hereditary colorectal cancer syndromes include Lynch syndrome and several polyposis syndromes (familial adenomatous polyposis, MUTYH-associated polyposis, juvenile polyposis syndrome, Peutz-Jeghers syndrome, and serrated polyposis syndrome). Learn about the genetics, clinical manifestations, management, and psychosocial aspects of these and other hereditary colon cancer syndromes in this expert-reviewed summary.

  15. Primary Dermal Melanoma in a Patient with a History of Multiple Malignancies: A Case Report with Molecular Characterization

    Directory of Open Access Journals (Sweden)

    Germana Sini

    2013-07-01

    Full Text Available Introduction: Primary dermal melanoma (PDM is a recently described clinical entity accounting for less than 1% of all melanomas. Histologically, it is located in the dermis or subcutaneous tissue, and it shows no connections with the overlying epidermis. The differential diagnosis is principally made along with that of metastatic cutaneous melanoma. Case Report: A 72-year-old Caucasian woman with a history of multiple cancers (metachronous bilateral breast cancer, meningioma, clear cell renal cell carcinoma, uterine fibromatosis and intestinal adenomatous polyposis, came to our attention with a nodular lesion on her back. After removal of the lesion, the histology report indicated malignant PDM or metastatic malignant melanoma. The clinical and instrumental evaluation of the patient did not reveal any other primary tumour, suggesting the primitive nature of the lesion. The absence of an epithelial component argued for a histological diagnosis of PDM. Subsequently, the patient underwent a wide surgical excision with sentinel node biopsy, which was positive for metastatic melanoma. Finally, the mutational status was studied in the main genes that regulate proliferation, apoptosis and cellular senescence. No pathogenetic mutations in CDKN2A, BRAF, NRAS, KRAS, cKIT, TP53 and PTEN genes were observed. This suggests that alternative pathways and low-frequency alterations may be involved. Conclusions: The differential diagnosis between PDM and isolated metastatic melanoma depends on the negativity of imaging studies and clinical findings for other primary lesions. This distinction is important because 5-year survival rates in such cases are higher than in metastatic cases (80-100 vs. 5-20%, respectively.

  16. [Informed Treatment Consent and Refusal in Advanced Endonasal Surgery: The Ethical Dilemma of Olfaction Sacrifice in Surgery for Chronic Rhinosinusitis with Polyposis].

    Science.gov (United States)

    Subtil, João; Araújo, João Pedro; Saraiva, José; Santos, Alberto; Vera-Cruz, Paulo; Paço, João; Pais, Diogo

    2015-01-01

    Olfaction is frequently affected in chronic rhino-sinusitis with polyposis and has been recognised to have important impact on quality of life. Surgical resolution on cases of maximal medical therapy failure is an option to relieve symptoms, with debates as to how extensive surgery should be. A more radical approach will achieve better disease control with less relapse, but can also compromise olfaction. This decision about a more radical surgical approach should be shared with the patient. Thorough informed consent regarding disease control and hyposmia should be taken. Literature review and consultation with a board of experts. We propose some elements to be included in the informed consent discussion, in order to broadly address the surgical limitations regarding anosmia as a frequent complaint, as well as the different options and their associated consequences. Radical surgery decision making should be shared with the patient and the informed consent should be as thorough as possible regarding disease control and hyposmia resolution.

  17. The prevalence of high dysplastic colonic adenomatous polyps in a 3 year endoscopic retrospective study from a single clinical center

    Directory of Open Access Journals (Sweden)

    Alexandru C. Septimiu

    2017-04-01

    Full Text Available Introduction: Many colon neoplastic tumors come from the malignancy of adenomatous polyps (70%-90% that were not timely diagnosed in order to be resected. Materials and Methods: We conducted a retrospective study regarding the incidence of adenomatous polyps during 1.000 consecutive colonoscopies performed in our Upper and Lower Digestive Endoscopy Laboratory during a three-year period. Results: During these colonoscopies, some targeted polyps were biopsied or completely removed and the samples had been sent to a complete anatomopathological examination. Taking into consideration the results, the polyps were classified after the histological type and the form of dysplasia, in order to determine the polyp forms that present a high risk of malignancy. Conclusion: Given the rather high frequency of malignant polyps discovered during our study, we highly recommend colonoscopy as a method of choice for routine monitoring of selected cases.

  18. Hereditary non-polyposis colorectal cancer is predicted to contribute towards colorectal cancer in young South African blacks

    Directory of Open Access Journals (Sweden)

    M. Ramsay

    2009-12-01

    Full Text Available A disproportionately large number of young (<50 years black patients present with colorectal cancer (CRC in South Africa. Although a phenomenon previously described elsewhere in Africa, its specificmolecular basis,whether sporadic or hereditary, has not been established. Molecular analysis of these tumours could link them to the features known to be associated with specific types of hereditary colorectal cancer, specifically through examination of levels of microsatellite instability, promoter methylation and the presence or absence of KRAS and BRAF mutations. The molecular features of cancer tissue samples from 44 CRC cases of black and white patients in South Africa were accordingly retrospectively analysed without knowledge of family history. Compared with samples from older blacks (>50 years, those from young black patients presented more often with a low methylation phenotype (CIMP-L and high levels of microsatellite instability (MSI-H. Furthermore, as determined by real-time PCR using probe technology, the tissues from35%of young blacks showed mutations within exon 1 of the KRAS gene. The BRAF-V600E mutation was only evident in the case of a single young black patient. Based on these results it seems likely that a proportion of CRC cases in young black patients from South Africa develop through the accumulation of mutations resulting in a mismatch repair deficiency linked to MSI-H and, possibly, germline mutations in the mismatch repair genes. The features in these patients are consistent with a diagnosis of the Hereditary Non-Polyposis Colorectal Cancer (HNPCC syndrome. This finding has important implications for patient management and suggests that family members may be at high risk for CRC.

  19. APC mutations in sporadic coloretal carcinomas from The Netherlands Cohort Study

    NARCIS (Netherlands)

    Lüchtenborg, M.; Weijenberg, M.P.; Roemen, G.M.J.M.; Bruïne, A.P. de; Brandt, P.A. van den; Lentjes, M.H.F.M.; Brink, M.; Engeland, M. van; Goldbohm, R.A.; Goeij, A.F.P.M. de

    2004-01-01

    The adenomatous polyposis coli (APC) gene is considered to be a gatekeeper in colorectal tumourigenesis. Inactivating mutations in APC have been reported in 34-70% of sporadic colorectal cancer patients, the majority of which occur in the mutation cluster region (MCR). In this study, tumour tissue

  20. APC mutant zebrafish uncover a changing temporal requirement for wnt signaling in liver development.

    NARCIS (Netherlands)

    Goessling, W.; North, T.E.; Lord, A.M.; Ceol, C.; Lee, S.; Weidinger, G.; Bourque, C.; Strijbosch, R.; Haramis, A.P.; Puder, M.; Clevers, H.; Moon, R.T.; Zon, L.I.

    2008-01-01

    Developmental signaling pathways hold the keys to unlocking the promise of adult tissue regeneration, and to inhibiting carcinogenesis. Patients with mutations in the Adenomatous Polyposis Coli (APC) gene are at increased risk of developing hepatoblastoma, an embryonal form of liver cancer,

  1. Additional Detection of Multiple Osteomas in a Patient with Gardner's Syndrome by Bone SPECT/CT

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Woo Hyoung; Kim, Daeweung; Kim, Chang Guhn; Kim, Myoung Hyoun [Wonkwang Univ. School of Medicine, Iksan (Korea, Republic of)

    2013-12-15

    Familial adenomatous polyposis (FAP) is an autosomal dominant disorder which generally develops numerous polyps in the colon and rectum during the second decade of life. Gardner's syndrome is a variant of FAP which has multiple osteomas, dental abnormalities, and fibromas, with incidence ranging between 1 in 4,000 and 1 in 40,000, depending on the region. We present the case of a 35-year-old man referred to our department for bone scintigraphy who was shown to have multiple colon polyps and nuchal type fibroma. In this patient, planar image showed intensely increased uptakes of bone agent in the maxilla and mandible, which are typical findings of Gardner's syndrome. Single photon emission computed tomography/computed tomography (SPECT/CT) was acquired to accurately identify and locate abnormal uptakes detected on planar images. SPECT/CT showed numerous osteomas in the maxilla and mandible where intense uptakes of bone agent were seen. Mildly asymmetrical, focally increased uptake in the superomedial aspect of the left orbit on anterior planar image was shown to be a fontal sinus osteoma on SPECT/CT. Enhanced sensitivity of detecting lesions of SPECT/CT superior to planar scintigraphy has been reported in previous studies. In this report, additional osteomas of sphenoidal and ethmoidal sinuses, which were not seen on planar scintigraphy, were detected by SPECT/CT. This case emphasizes that nuclear physicians should be aware of the typical findings of bone scintigraphy for Gardner's syndrome and also that SPECT/CT could be helpful to diagnose additional lesions not seen on planar images.

  2. Associations among benign prostate hypertrophy, atypical adenomatous hyperplasia and latent carcinoma of the prostate.

    Science.gov (United States)

    Stamatiou, Konstantinos; Alevizos, Alevizos; Natzar, Mohamed; Mihas, Constantinos; Mariolis, Anargiros; Michalodimitrakis, Emmanouel; Sofras, Fragiskos

    2007-03-01

    To investigate the frequency of atypical adenomatous hyperplasia (AAH) and its associations with benign prostate hypertrophy (BPH) and latent histological carcinoma of the prostate (LPC) in autopsy material. Two hundred and twelve prostate specimens obtained from autopsy material were subjected to whole mount analysis in an attempt to investigate the associations among BPH, AAH and LPC. Most histological carcinomas and AAH lesions were found in enlarged prostates with intense hypertrophy. No statistically significant relation was found between BPH and the main characteristics of LPC, such as tumor volume, histological differentiation and biological behavior. Our data regarding multi-focal tumors showed a tendency for multi-focal carcinomas to develop in larger prostates, and a tendency of AAH lesions to develop in larger prostates. No statistically significant relation was found between AAH and LPC. There seems not any causative aetiopathogenetical or topographical relation between AAH lesions and prostate adenocarcinoma. AAH lesion seems to be a well-defined mimicker of prostatic adenocarcinoma, and the reported association of AAH with prostatic carcinoma could probably be an epiphenomenon.

  3. Café au lait macules and juvénile polyps.

    Science.gov (United States)

    Pacheco, Theresa R; Scatena, Lisa S; Hoffenberg, Edward J; Gralla, Jane; Lee, Lela A

    2007-01-01

    Several hereditary and nonhereditary gastrointestinal tract polyposis syndromes exhibit extra-intestinal manifestations, including cutaneous findings. However, a lack of information exists regarding cutaneous features of juvenile polyposis. Our objective was to document the prevalence of cutaneous hyperpigmented lesions in children with juvenile polyposis coli or juvenile polyposis coli and their first degree relatives.Children seen in the gastroenterology practice at The Children's Hospital in Denver, Colorado with polyps (juvenile polyposis coli, sporadic juvenile polyps, and familial adenomatous polyposis coli) and their first degree relatives were invited to participate in the study. A comprehensive skin examination was performed on those who consented to participate. We found that 8 of 14 patients (eight with juvenile polyposis coli, four with juvenile polyposis, and two with familial adenomatous polyposis coli) had at least one café-au-lait macule, compared with three of 27 relatives (p=0.003).The prevalence of at least one café-au-lait macule in our patients (8/14 or 57.1%, CI: 28.9–82.3%) was significantly higher than the general population prevalence of 28.5% (p=0.023). However, if the two patients with familial adenomatous polyposis coli were excluded, the comparison with the general population prevalence did not reach statistical significance (p=0.095). The prevalence of multiple cafe´-au-lait macules in our patients (4/14 or 28.6%; CI:8.4–58.1%) was significantly higher than the general population prevalence of 5.2% (p ¼ 0.005). A notable finding was the presence of multiple café -au-lait macules in 4 of 12 juvenile polyposis coli/juvenile polyposis patients.Two patients with juvenile polyposis coli also had lentigines. In this selected case series, we observed single or multiple café-au-lait macules in a high proportion of children with the three types of polyps. Further studies are needed to assess a possible common pathway for hamartomatous

  4. The role of TNF alpha polymorphism and expression in susceptibility to nasal polyposis.

    Science.gov (United States)

    Zhang, Guimin; Zhang, Jinmei; Kuang, Manbao; Lin, Peng

    2018-02-01

    In this study, we first performed a meta-analysis to assess the role of single-nucleotide polymorphism (SNP) within tumor necrosis factor alpha (TNF alpha) gene and TNF alpha expression in the risk of nasal polyposis. STATA 12.0 software was utilized to conduct the Mantel-Haenszel statistics, Cohen statistics, Begg's test, Egger's tests and sensitivity analysis. We systemically carried out the database retrieval and initially identified 486 articles. After screening, 15 articles were included in our meta-analysis. For TNF alpha rs1800629 G/A SNP, compared with control group, an increased risk of nasal polyposis of case group was observed in the models of A vs. G [p (P value of association) = 0.009, OR (odds ratio) = 1.35], GA vs. GG (p = 0.001, OR = 1.69), GA+AA vs. GG (p = 0.010, OR = 1.47). The similar results were observed in Caucasian subgroup (p 1). For TNF alpha rs361525 G/A SNP, no significant difference between control and case group was detected (all p > 0.05). In addition, a significant difference exists between case and control groups in the meta-analyses of TNF alpha expression in nasal mucosal cells, secreted TNF alpha (p 1), but not serum TNF alpha (p = 0.090). The present meta-analysis revealed that TNF alpha rs1800629, increased TNF alpha expression and secretion of nasal mucosal cells were associated with an increased risk of nasal polyposis.

  5. Mucosal prolapse in the pathogenesis of Peutz-Jeghers polyposis.

    NARCIS (Netherlands)

    Jansen, M.; Leng, W.W.J. de; Baas, A.F.; Myoshi, H.; Mathus-Vliegen, L.; Taketo, M.M.; Clevers, J.C.; Giardiello, F.M.; Offerhaus, G.J.A.

    2006-01-01

    Germline mutations in LKB1 cause the rare cancer prone disorder Peutz-Jeghers syndrome (PJS). Gastrointestinal hamartomatous polyps constitute the major phenotypic trait in PJS. Hamartomatous polyps arising in PJS patients are generally considered to lack premalignant potential although rare

  6. RESEARCH Lessons from the hepatoblastoma-familial polyposis ...

    African Journals Online (AJOL)

    Hepatoblastoma (HB) is the most common primary liver cancer of childhood, accounting for up to 1% of all paediatric malignancies, particularly in the younger child. HB is associated with congenital abnormalities in approximately one-third of patients, suggesting complex genetic and/or epigenetic factors in its ...

  7. Determination of optical properties of normal and adenomatous human colon tissues in vitro using integrating sphere techniques

    Science.gov (United States)

    Wei, Hua-Jiang; Xing, Da; Lu, Jian-Jun; Gu, Huai-Min; Wu, Guo-Yong; Jin, Ying

    2005-01-01

    AIM: The purpose of the present study is to compare the optical properties of normal human colon mucosa/submucosa and muscle layer/chorion, and adenomatous human colon mucosa/submucosa and muscle layer/chorion in vitro at 476.5, 488, 496.5, 514.5 and 532 nm. We believe these differences in optical properties should help differential diagnosis of human colon tissues by using optical methods. METHODS: In vitro optical properties were investigated for four kinds of tissues: normal human colon mucosa/submucosa and muscle layer/chorion, and adenomatous human colon mucosa/submucosa and muscle layer/chorion. Tissue samples were taken from 13 human colons (13 adenomatous, 13 normal). From the normal human colons a total of 26 tissue samples, with a mean thickness of 0.40 mm, were used (13 from mucosa/submucosa and 13 from muscle layer/chorion), and from the adenomatous human bladders a total of 26 tissue samples, with a mean thickness of 0.40 mm, were used (13 from mucosa/submucosa and 13 from muscle layer/chorion). The measurements were performed using a double-integrating-sphere setup and the optical properties were assessed from these measurements using the adding-doubling method that was considered reliable. RESULTS: The results of measurement showed that there were significant differences in the absorption coefficients and scattering coefficients between normal and adenomatous human colon mucosa/submucosa at the same wavelength, and there were also significant differences in the two optical parameters between both colon muscle layer/chorion at the same wavelength. And there were large differences in the anisotropy factors between both colon mucosa/submucosa at the same wavelength, there were also large differences in the anisotropy factors between both colon muscle layer/chorion at the same wavelength. There were large differences in the value ranges of the absorption coefficients, scattering coefficients and anisotropy factors between both colon mucosa/submucosa, and

  8. Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

    NARCIS (Netherlands)

    Sijmons, Rolf; Hofstra, Roelof; Hollema, Harmen; Mensink, R; VANDERHOUT, A; Hoekstra, Harald; Kleibeuker, Jan; Molenaar, Willemina; Wijnen, Juul; Fodde, R; Vasen, H; Buys, Carolus

    2000-01-01

    Sarcomas, including the malignant fibrous histiocytomas (MFHs), are not known to be part of the tumour spectrum of hereditary non-polyposis colorectal cancer (HNPCC) as epidemiologically established. Therefore, occurrence of MFH in an HNPCC family may very well be coincidental. HNPCC is associated

  9. Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome.

    Science.gov (United States)

    Drini, Musa; Wong, Nicholas C; Scott, Hamish S; Craig, Jeffrey M; Dobrovic, Alexander; Hewitt, Chelsee A; Dow, Christofer; Young, Joanne P; Jenkins, Mark A; Saffery, Richard; Macrae, Finlay A

    2011-02-10

    Hyperplastic Polyposis Syndrome (HPS) is a condition associated with multiple serrated polyps, and an increased risk of colorectal cancer (CRC). At least half of CRCs arising in HPS show a CpG island methylator phenotype (CIMP), potentially linked to aberrant DNA methyltransferase (DNMT) activity. CIMP is associated with methylation of tumor suppressor genes including regulators of DNA mismatch repair (such as MLH1, MGMT), and negative regulators of Wnt signaling (such as WIF1). In this study, we investigated the potential for interaction of genetic and epigenetic variation in DNMT genes, in the aetiology of HPS. We utilized high resolution melting (HRM) analysis to screen 45 cases with HPS for novel sequence variants in DNMT1, DNMT3A, DNMT3B, and DNMT3L. 21 polyps from 13 patients were screened for BRAF and KRAS mutations, with assessment of promoter methylation in the DNMT1, DNMT3A, DNMT3B, DNMT3L MLH1, MGMT, and WIF1 gene promoters. No pathologic germline mutations were observed in any DNA-methyltransferase gene. However, the T allele of rs62106244 (intron 10 of DNMT1 gene) was over-represented in cases with HPS (pdisease free cells with methylation level negatively correlated to expression level in normal colonic tissue. DNMT3L promoter hypomethylation was more often found in polyps harbouring KRAS mutations (p = 0.0053). BRAF mutations were common (11 out of 21 polyps), whilst KRAS mutations were identified in 4 of 21 polyps. Genetic or epigenetic alterations in DNMT genes do not appear to be associated with HPS, but further investigation of genetic variation at rs62106244 is justified given the high frequency of the minor allele in this case series.

  10. Methylation diet and methyl group genetics in risk for adenomatous polyp occurrence.

    Science.gov (United States)

    Lucock, Mark; Yates, Zoë; Martin, Charlotte; Choi, Jeong-Hwa; Beckett, Emma; Boyd, Lyndell; LeGras, Kathleen; Ng, Xiaowei; Skinner, Virginia; Wai, Ron; Kho, Jeremy; Roach, Paul; Veysey, Martin

    2015-06-01

    The aim of this study is to explore whether a methylation diet influences risk for adenomatous polyps (AP) either independently, or interactively with one-carbon metabolism-dependent gene variants, and whether such a diet modifies blood homocysteine, a biochemical phenotype closely related to the phenomenon of methylation. 249 subjects were examined using selective fluorescence, PCR and food frequency questionnaire to determine homocysteine, nine methylation-related gene polymorphisms, dietary methionine, 5-methyltetrahydrofolate, vitamins B6 and B12. 1). Both dietary methionine and 5-methyltetrahydrofolate intake are significantly associated with plasma homocysteine. 2). Dietary methionine is related to AP risk in 2R3R-TS wildtype subjects, while dietary B12 is similarly related to this phenotype in individuals heterozygous for C1420T-SHMT, A2756G-MS and 844ins68-CBS, and in those recessive for 2R3R-TS. 3). Dietary methionine has a marginal influence on plasma homocysteine level in C1420T-SHMT heterozygotes, while B6 exhibits the same effect on homocysteine in C776G-TCN2 homozygote recessive subjects. Natural 5-methyltetrahydrofolate intake is interesting: Wildtype A1298C-MTHFR, heterozygote C677T-MTHFR, wildtype A2756G-MS and recessive A66G-MSR individuals all show a significant reciprocal association with homocysteine. 4). Stepwise regression of all genotypes to predict risk for AP indicated A2756G-MS and A66G-MSR to be most relevant (p = 0.0176 and 0.0408 respectively). Results were corrected for age and gender. A methylation diet influences methyl group synthesis in the regulation of blood homocysteine level, and is modulated by genetic interactions. Methylation-related nutrients also interact with key genes to modify risk of AP, a precursor of colorectal cancer. Independent of diet, two methylation-related genes (A2756G-MS and A66G-MSR) were directly associated with AP occurrence.

  11. DNA Methylation Changes in Atypical Adenomatous Hyperplasia, Adenocarcinoma In Situ, and Lung Adenocarcinoma

    Science.gov (United States)

    Selamat, Suhaida A.; Galler, Janice S.; Joshi, Amit D.; Fyfe, M. Nicky; Campan, Mihaela; Siegmund, Kimberly D.; Kerr, Keith M.; Laird-Offringa, Ite A.

    2011-01-01

    Background Aberrant DNA methylation is common in lung adenocarcinoma, but its timing in the phases of tumor development is largely unknown. Delineating when abnormal DNA methylation arises may provide insight into the natural history of lung adenocarcinoma and the role that DNA methylation alterations play in tumor formation. Methodology/Principal Findings We used MethyLight, a sensitive real-time PCR-based quantitative method, to analyze DNA methylation levels at 15 CpG islands that are frequently methylated in lung adenocarcinoma and that we had flagged as potential markers for non-invasive detection. We also used two repeat probes as indicators of global DNA hypomethylation. We examined DNA methylation in 249 tissue samples from 93 subjects, spanning the putative spectrum of peripheral lung adenocarcinoma development: histologically normal adjacent non-tumor lung, atypical adenomatous hyperplasia (AAH), adenocarcinoma in situ (AIS, formerly known as bronchioloalveolar carcinoma), and invasive lung adenocarcinoma. Comparison of DNA methylation levels between the lesion types suggests that DNA hypermethylation of distinct loci occurs at different time points during the development of lung adenocarcinoma. DNA methylation at CDKN2A ex2 and PTPRN2 is already significantly elevated in AAH, while CpG islands at 2C35, EYA4, HOXA1, HOXA11, NEUROD1, NEUROD2 and TMEFF2 are significantly hypermethylated in AIS. In contrast, hypermethylation at CDH13, CDX2, OPCML, RASSF1, SFRP1 and TWIST1 and global DNA hypomethylation appear to be present predominantly in invasive cancer. Conclusions/Significance The gradual increase in DNA methylation seen for numerous loci in progressively more transformed lesions supports the model in which AAH and AIS are sequential stages in the development of lung adenocarcinoma. The demarcation of DNA methylation changes characteristic for AAH, AIS and adenocarcinoma begins to lay out a possible roadmap for aberrant DNA methylation events in tumor

  12. Mantle Cell Lymphoma of Intestine Presenting as Multiple Lymphomatous Polyposis with Intussusception

    Directory of Open Access Journals (Sweden)

    Meena N. Jadhav

    2015-01-01

    Full Text Available Mantle Cell Lymphoma (MCL is a distinct clinicopathological subtype of B-cell non-Hodgkin's lymphoma (NHL accounting for 2-10% of all NHL cases. Gastrointestinal tract (GIT is the predominant site of extranodal MCL which commonly presents as Multiple Lymphomatous Polyposis (MLP. A 60 year old male presented with pain abdomen, diarrhea and weight loss of two months duration. On colonoscopy multiple polyps were found in the entire colon and rectum. Computed tomography revealed ileo-colic intussusception with nodularity in the lead point. Histopathology suggested features of MCL. On immunohistochemistry, the tumor cells were positive for CD20, CD5, Cyclin D1, negative for CD3, CD10, CD23, and CD45 RO

  13. Protein-losing pseudomembranous colitis with cap polyposis-like features.

    Science.gov (United States)

    Kreisel, Wolfgang; Ruf, Guenther; Salm, Richard; Lazaro, Adhara; Bengsch, Bertram; Globig, Anna-Maria; Fisch, Paul; Lassmann, Silke; Schmitt-Graeff, Annette

    2017-04-28

    Protein-losing enteropathy (PLE) is characterized by loss of serum proteins into the gastrointestinal tract. It may lead to hypoproteinemia and clinically present as protein deficiency edema, ascites, pleural or pericardial effusion and/or malnutrition. In most cases the site of protein loss is the small intestine. Here we present an unusual case of severe PLE in a 55-year old female with a one-year history of recurrent diarrhea, crampy abdominal pain, and peripheral edema. Endoscopy and MRI showed a diffuse inflammatory thickening of the sigmoid colon and the rectum. Surgical resection of the involved colon was performed and the symptoms were significantly resolved. The final histologic evaluation confirmed a diagnosis of a pseudomembranous colitis with cap polyposis-like features. Such a cause of PLE has never been described before.

  14. NF-kappaB, p38 MAPK and JNK are highly expressed and active in the stroma of human colonic adenomatous polyps

    NARCIS (Netherlands)

    Hardwick, J. C.; van den Brink, G. R.; Offerhaus, G. J.; van Deventer, S. J.; Peppelenbosch, M. P.

    2001-01-01

    The factors that govern the progression from colonic adenomatous polyp to colon cancer are poorly understood. The observation that NSAIDs act as chemopreventative agents and reduce the size of colonic polyps suggests the involvement of inflammatory signalling, but inflammatory signalling in colonic

  15. Crystal-storing histiocytosis due to massive accumulation of charcot-leyden crystals: a unique association producing colonic polyposis in a 78-year-old woman with eosinophilic colitis.

    Science.gov (United States)

    Lewis, Jason T; Candelora, Joseph N; Hogan, Reed B; Briggs, Frank R; Abraham, Susan C

    2007-03-01

    Crystal-storing histiocytosis is a rare diagnosis that to date has only been associated with 2 conditions: intracytoplasmic accumulation of crystallized immunoglobulins in patients with lymphoproliferative disorders or plasma cell dyscrasias, and histiocytic accumulations of phagocytosed clofazimine, a drug used to treat lepromatous leprosy. We describe a 78-year-old woman with a past medical history of dermatologic mastocytosis and peripheral eosinophilia who presented with diarrhea and weight loss, and was found at colonoscopy to have polyposis limited to the right and transverse colon. She eventually underwent subtotal colectomy to remove the segment of polyposis. At gross examination, the colonic mucosa contained numerous polyps ranging from 1 to 7 mm which on histologic evaluation proved to represent mucosal and submucosal collections of histiocytes whose cytoplasm was distended by numerous brightly eosinophilic crystals. An intense eosinophilic infiltrate surrounded the histiocyte collections and also mildly involved the intervening colonic mucosa and superficial submucosa. Electron microscopy confirmed the presence of intracytoplasmic material identical to Charcot-Leyden crystals within histiocytes, representing the breakdown products of degranulated eosinophils. This is the first reported case of crystal-storing histiocytosis produced by massive accumulation of Charcot-Leyden crystals in eosinophilic colitis.

  16. Adenomatous-Dominant Benign Prostatic Hyperplasia (AdBPH) as a Predictor for Clinical Success Following Prostate Artery Embolization: An Age-Matched Case–Control Study

    Energy Technology Data Exchange (ETDEWEB)

    Little, M. W., E-mail: m.little@doctors.org.uk; Boardman, P.; Macdonald, A. C.; Taylor, N.; Macpherson, R. [Oxford University Hospitals NHS Foundation Trust, Department of Radiology, Churchill Hospital (United Kingdom); Crew, J. [Oxford University Hospitals NHS Foundation Trust, Department of Urology, Churchill Hospital (United Kingdom); Tapping, C. R., E-mail: crtapping@doctors.org.uk [Oxford University Hospitals NHS Foundation Trust, Department of Radiology, Churchill Hospital (United Kingdom)

    2017-05-15

    PurposeTo investigate the clinical impact of performing prostate artery embolization (PAE) on patients with adenomatous-dominant benign prostatic hyperplasia (AdBPH).Materials and MethodsTwelve patients from the ongoing proSTatic aRtery EmbolizAtion for the treatMent of benign prostatic hyperplasia (STREAM) trial were identified as having AdBPH; defined as two or more adenomas within the central gland of ≥1 cm diameter on multi-parametric MRI (MP-MRI). These patients were age-matched with patients from the STREAM cohort, without AdBPH. Patients were followed up with repeat MP-MRI at 3 months and 1 year. International prostate symptom score (IPSS), international index for erectile function (IIEF), and quality of life assessment from the IPSS and EQ-5D-5S questionnaires were recorded pre-PAE and at 6 weeks, 3 months, and 1 year.ResultsThe mean age of patients was 68 (61–76). All patients had PAE as a day-case procedure. The technical success in the cohort was 23/24 (96%). There was a significant reduction in prostate volume following embolization with a median reduction of 34% (30–55) in the AdBPH group, compared to a mean volume reduction of 22% (9–44) in the non-AdBPH group (p = 0.04). There was a significant reduction in IPSS in the AdBPH group following PAE when compared with the control group [AdBPH median IPSS 8 (3–15) vs. non-AdBPH median IPSS 13 (8–18), p = 0.01]. IPSS QOL scores significantly improved in the AdBPH group (p = 0.007). There was no deterioration in sexual function in either group post-PAE.ConclusionsThis is the first time that AdBPH has been identified as being a predictor of clinical success following PAE.

  17. Higher prevalence of nasal polyposis among textile workers: an endoscopic based and controlled study.

    Science.gov (United States)

    Veloso-Teles, R; Cerejeira, R; Roque-Farinha, R; von Buchwald, C

    2018-02-03

    There is a deficit of reliable epidemiologic studies exploring the prevalence of Chronic Rhinosinusitis with Nasal Polyps (CRSwNP). Recent data suggests that occupational dust exposure may be involved in its physiopathology. To compare the prevalence of nasal polyposis (NP) in a group of workers with occupational dust exposure (textile workers) and in a control group (retail store workers). Cross-sectional study with a random sample of textile and retail store employees. Clinical data was gathered through a systematic interview, which included RhinoQOL and CAT questionnaires. A systematic endoscopic nasal examination was performed using a 0 degree rigid endoscope. Lund-Kennedy endoscopic score was determined for each participant. Statistical analysis was performed with SPSS. 316 participants were included in the study, i.e. 215 textile workers and 101 retail store workers. NP was found in 19 subjects among textile workers and none in the control group. The prevalence of NP increased by age strata and by years of dust exposition. Polypoid degeneration of the middle turbinate was more prevalent in the exposed group with Lund-Kennedy scoring also higher. RhinoQOL and CAT questionnaires had both significantly higher scores among textile employees. Previous medical diagnosis of atopic diseases or chronic lower airway diseases did not differ between exposed and control groups or even between subjects with and without NP. These results point to an important correlation between occupational dust exposure and NP occurrence.

  18. Mandibular osteomas in sporadic colorectal carcinoma. A genetic marker

    DEFF Research Database (Denmark)

    Søndergaard, J O; Rasmussen, M S; Videbaek, H

    1993-01-01

    Pantomography of the mandible was performed in 98 patients with sporadic colorectal adenocarcinoma. Twenty-eight patients (29%) had osteomas versus 5% in a control group (P osteomas are found in most patients with the premalignant dominant syndrome familial adenomatous...... polyposis. Sporadic colorectal cancer examinations of married couples have shown that diet has only a moderate influence on the development of colorectal cancer, whereas pedigree studies indicate a genetic component. On this basis we conclude that mandibular osteomas are probably genetic markers...

  19. ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

    Science.gov (United States)

    Syngal, Sapna; Brand, Randall E.; Church, James M.; Giardiello, Francis M.; Hampel, Heather L.; Burt, Randall W.

    2015-01-01

    This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. PMID:25645574

  20. Estudo histológico e ultra-estrutural da mucosa do seio maxilar em pacientes com rinossinusite crônica e polipose nasossinusal Histology and ultrastructural study of the mucosa of the maxillary sinus in patients with chronic rhinosinusitis and nasosinusal polyposis

    Directory of Open Access Journals (Sweden)

    João Vicente Dorgam

    2004-01-01

    Full Text Available Na rinossinusite crônica, a inflamação da mucosa nasossinusal provoca alterações qualitativas e quantitativas do epitélio respiratório que recobre toda a cavidade nasossinusal, levando à manutenção do quadro inflamatório. FORMA DE ESTUDO: Caso-controle. MATERIAL E MÉTODO: Foram avaliados histopatologicamente dez pacientes com rinossinusite crônica (RC e polipose nasossinusal (PN por meio da história clínica e alérgica, estudo microbiológico, microscopia óptica, eletrônica de transmissão e varredura. RESULTADO: A diminuição do número de células colunares ciliadas, o aumento das células caliciformes, a diminuição do número de cílios por célula afetada e a metaplasia escamosa foram alterações freqüentemente encontradas nos casos de rinossinusite, explicando a persistência do quadro pela destruição no epitélio e quebra do sistema mucociliar.In chronic rhinosinusitis, inflammation of the rhinosinusal mucosa provokes qualitative and quantitative changes in the respiratory epithelium that lines the entire rhinosinusal cavity, leading to the maintenance of an inflammatory picture. STUDY DESIGN: Case-control. MATERIAL AND METHOD: In the present study we evaluated histopathologically ten patients with chronic rhinosinusitis on the basis of clinical and allergic history, microbiological study, and light, electron and scanning electron microscopy. RESULTS: A reduced number of ciliated columnar cells, an increase in goblet-like cells, a reduction in the number of cilia per affected cell and squamous metaplasia were changes frequently detected in the cases of rhinosinusitis, explaining the persistence of the signs and symptoms due to the destruction of the epithelium and to the breakdown of the mucociliary system.

  1. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani

    2011-01-01

    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  2. PATTERNS OF SEVEN AND COMPLICATED MALARIA IN CHILDREN

    African Journals Online (AJOL)

    GB

    2017-07-01

    Jul 1, 2017 ... ABSTRACT. BACKGROUND: The coexistence of familial adenomatous polyposis and spondyloarthritis is rarely defined in literature. The primary aim of this presentation is to report a development of peripheral arthritis in 3 years following colon surgery with the diagnosis of familial adenomatous polyposis ...

  3. Disease: H01025 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01025 Familial adenomatous polyposis Familial adenomatous polyposis (FAP) is an au...575] ICD-10: D12.6 MeSH: D011125 OMIM: 175100 608456 PMID:19822006 (description, gene) Half E, Bercovich D, Rozen P Familia

  4. Myc deletion rescues Apc deficiency in the small intestine

    NARCIS (Netherlands)

    Sansom, O.J.; Meniel, V.S.; Muncan, V.; Phesse, T.J.; Wilkins, J.A.; Reed, K.R.; Vass, J.K.; Athineos, D.; Clevers, J.C.; Clarke, A.R.

    2007-01-01

    The APC gene encodes the adenomatous polyposis coli tumour suppressor protein, germline mutation of which characterizes familial adenomatous polyposis (FAP), an autosomal intestinal cancer syndrome. Inactivation of APC is also recognized as the key early event in the development of sporadic

  5. Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

    Science.gov (United States)

    Sheng, Jian Qiu; Chan, Tsun Leung; Chan, Yee Wai; Huang, Ji Sheng; Chen, Ji Gui; Zhang, Ming Zhi; Guo, Xiu Lan; Mu, Hong; Chan, Annie Sy; Li, Shi Rong; Yuen, Siu Tsan; Leung, Suet Yi

    2006-01-01

    Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is the most common cause of hereditary colorectal cancer with an early age of onset. Microsatellite instability (MSI) and germline mutation in one of the DNA mismatch repair (MMR) genes are found in the majority of HNPCC families and provide an opportunity for genetic diagnosis and prophylactic screening. The MMR gene mutation spectrum may vary across different populations and be influenced by founder mutations that prevail in specific ethnic groups. China is a big and ancient nation with enormous genetic diversity, which is especially notable between the northern and southern Chinese populations. A MMR gene mutation database for the southern Chinese population based in Hong Kong has been previously established. This study compares the MMR gene mutation spectrum and the MSI of HNPCC between the northern and southern Chinese populations. Twenty-five HNPCC families from northern China were systematically analyzed. The MSI analysis was performed using five loci in the USA National Cancer Institute (NCI) panel (D2S123, D5S346, BAT-25, BAT-26 and BAT-40) by PCR from the tumor and normal tissue. MSH2, MSH6 and MLH1 were performed using immunohistochemical staining. Two founder mutations of MSH2 and MLH1 were examined by PCR base analyses using primers flanking the two deletion sites (c.1452_1455delAATG in MSH2 and 1.8 kb deletion involving exon 11 of MLH1). Of the 25 families collected, 19 met Bethesda guideline (BG) 1 and six met BG3. Twenty-two (15.7%) were extra-colonic cancers with gastric cancer (in seven patients) being the most common cancer type. Of the 25 tumors analyzed, 21 (84%) were high level microsatellite instability (MSI-H) and four (16%) were microsatellite stable (MSS). Eighteen (86%) of the 21 MSI-H tumors showed loss of either the MLH1 or the MSH2 protein. Three MSI-H tumors and all four MSS tumors showed no loss of expression of the three MMR proteins. Out of the 21 patients with MSI

  6. Colon Cancer Metastatic to the Biliary Tree

    OpenAIRE

    Strauss, Alexandra T.; Clayton, Steven B.; Markow, Michael; Mamel, Jay

    2016-01-01

    Metastasis of colon adenocarcinoma is commonly found in the lung, liver, or peritoneum. Common bile duct (CBD) tumors related to adenomas from familial adenomatous polyposis metastasizing from outside of the gastrointestinal tract have been reported. We report a case of biliary colic due to metastatic colon adenocarcinoma to the CBD. Obstructive jaundice with signs of acalculous cholecystitis on imaging in a patient with a history of colon cancer should raise suspicion for metastasis to CBD.

  7. Role of APC and DNA mismatch repair genes in the development of colorectal cancers

    Directory of Open Access Journals (Sweden)

    Roy Deodutta

    2003-12-01

    Full Text Available Abstract Colorectal cancer is the third most common cause of cancer-related death in both men and women in the western hemisphere. According to the American Cancer Society, an estimated 105,500 new cases of colon cancer with 57,100 deaths will occur in the U.S. in 2003, accounting for about 10% of cancer deaths. Among the colon cancer patients, hereditary risk contributes approximately 20%. The main inherited colorectal cancers are the familial adenomatous polyposis (FAP and the hereditary nonpolyposis colorectal cancers (HNPCC. The FAP and HNPCC are caused due to mutations in the adenomatous polyposis coli (APC and DNA mismatch repair (MMR genes. The focus of this review is to summarize the functions of APC and MMR gene products in the development of colorectal cancers.

  8. Thermal coagulation-induced changes of the optical properties of normal and adenomatous human colon tissues in vitro in the spectral range 400 1100 nm

    Science.gov (United States)

    Ao, Huilan; Xing, Da; Wei, Huajiang; Gu, Huaimin; Wu, Guoyong; Lu, Jianjun

    2008-04-01

    The absorption coefficients, the reduced scattering coefficients and the optical penetration depths for native and coagulated human normal and adenomatous colon tissues in vitro were determined over the range of 400-1100 nm using a spectrophotometer with an internal integrating sphere system, and the inverse adding-doubling method was applied to calculate the tissue optical properties from diffuse reflectance and total transmittance measurements. The experimental results showed that in the range of 400-1100 nm there were larger absorption coefficients (P thermotherapy (LITT) and photodynamic therapy (PDT). It is necessary to adjust the application parameters of lasers to achieve optimal therapy.

  9. Immunologic factors in patients with chronic polypoid sinusitis ...

    African Journals Online (AJOL)

    Immunologic factors in patients with chronic polypoid sinusitis. S Nikakhlagh, M Ghafourian-Boroujerdnia, N Saki, M.R Soltan-Moradi, F Rahim. Abstract. Nasal polyposis is the benign protrusion of soft tissue into the nasal cavity, with multifactorial origin. This study is designed to examine the suggested role of IgE and CD4 ...

  10. Cost effectiveness of a new strategy to identify HNPCC patients

    NARCIS (Netherlands)

    Kievit, W; Adang, EMM; Severens, JL; Kleibeuker, JH; Sijmons, RH; Ruers, TJ; Nagengast, FM; Vasen, HFA; van Krieken, JHJM; Ligtenberg, MJL; Hoogerbrugge, N

    Background: Distinguishing hereditary non-polyposis colorectal cancer (HNPCC) from non-hereditary colorectal cancer (CRC) can increase the life expectancy of HNPCC patients and their close relatives. Aim: To determine the effectiveness, efficiency, and feasibility of a new strategy for the detection

  11. Serrated polyposis associated with a family history of colorectal cancer and/or polyps: The preferential location of polyps in the colon and rectum defines two molecular entities.

    Science.gov (United States)

    Silva, Patrícia; Albuquerque, Cristina; Lage, Pedro; Fontes, Vanessa; Fonseca, Ricardo; Vitoriano, Inês; Filipe, Bruno; Rodrigues, Paula; Moita, Susana; Ferreira, Sara; Sousa, Rita; Claro, Isabel; Nobre Leitão, Carlos; Chaves, Paula; Dias Pereira, António

    2016-09-01

    Serrated polyposis (SPP) is characterized by the development of multiple serrated polyps and an increased predisposition to colorectal cancer (CRC). In the present study, we aimed to characterize, at a clinical and molecular level, a cohort of SPP patients with or without a family history of SPP and/or polyps/CRC (SPP-FHP/CRC). Sixty-two lesions from 12 patients with SPP-FHP/CRC and 6 patients with sporadic SPP were included. The patients with SPP-FHP/CRC presented with an older mean age at diagnosis (p=0.027) and a more heterogeneous histological pattern of lesions (p=0.032) than the patients with sporadic SPP. We identified two molecular forms of SPP-FHP/CRC, according to the preferential location of the lesions: proximal/whole-colon or distal colon. Mismatch repair (MMR) gene methylation [mutS homolog 6 (MSH6)/mutS homolog 3 (MSH3)] or loss of heterozygosity (LOH) of D2S123 (flanking MSH6) were detected exclusively in the former (p=3.0x10-7), in most early lesions. Proximal/whole‑colon SPP-FHP/CRC presented a higher frequency of O-6-methylguanine-DNA methyltransferase (MGMT) methylation/LOH, microsatellite instability (MSI) and Wnt mutations (19/29 vs. 7/17; 16/23 vs. 1/14, p=2.2x10-4; 15/26 vs. 2/15, p=0.006; 14/26 vs. 4/20, p=0.02) but a lower frequency of B-raf proto-oncogene, serine/threonine kinase (BRAF) mutations (7/30 vs. 12/20, p=0.0089) than the distal form. CRC was more frequent in cases of Kirsten rat sarcoma viral oncogene homolog (KRAS)-associated proximal/whole-colon SPP-FHP/CRC than in the remaining cases (4/4 vs. 1/8, p=0.01). Thus, SPP-FHP/CRC appears to be a specific entity, presenting two forms, proximal/whole-colon and distal, which differ in the underlying tumor initiation pathways. Early MGMT and MMR gene deficiency in the former may underlie an inherited susceptibility to genotoxic stress.

  12. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

    Science.gov (United States)

    Rohlin, Anna; Rambech, Eva; Kvist, Anders; Törngren, Therese; Eiengård, Frida; Lundstam, Ulf; Zagoras, Theofanis; Gebre-Medhin, Samuel; Borg, Åke; Björk, Jan; Nilbert, Mef; Nordling, Margareta

    2017-04-01

    Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19 CRC susceptibility genes to 91 individuals of six phenotypic subgroups. Targeted NGS-based sequencing of the whole gene regions including introns of the 19 genes was used. The individuals had a family history of CRC or had a phenotype consistent with a known CRC syndrome. The purpose of the study was to demonstrate the diagnostic difficulties linked to genotype-phenotype diversity and the benefits of using a gene panel. Pathogenicity classification was carried out on 46 detected variants. In total we detected sixteen pathogenic or likely pathogenic variants and 30 variants of unknown clinical significance. Four of the pathogenic or likely pathogenic variants were found in BMPR1A in patients with unexplained familial adenomatous polyposis or atypical adenomatous polyposis, which extends the genotype-phenotype spectrum for this gene. Nine patients had more than one variant remaining after the filtration, including three with truncating mutations in BMPR1A, PMS2 and AXIN2. CNVs were found in three patients, in upstream regions of SMAD4, MSH3 and CTNNB1, and one additional individual harbored a 24.2 kb duplication in CDH1 intron1.

  13. Thin-section computed tomography–histopathologic comparisons of pulmonary focal interstitial fibrosis, atypical adenomatous hyperplasia, adenocarcinoma in situ, and minimally invasive adenocarcinoma with pure ground-glass opacity

    Energy Technology Data Exchange (ETDEWEB)

    Si, Ming-Jue, E-mail: smjsh@hotmail.com [Department of Radiology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Shanghai 201999 (China); Tao, Xiao-Feng, E-mail: taoxiaofeng1963@hotmail.com [Department of Radiology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Shanghai 201999 (China); Du, Guang-Ye, E-mail: 715376158@qq.com [Department of Pathology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Shanghai 201999 (China); Cai, Ling-Ling, E-mail: caill_00@163.com [Department of Radiology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Shanghai 201999 (China); Han, Hong-Xiu, E-mail: hanhongxiu@hotmail.com [Department of Pathology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Shanghai 201999 (China); Liang, Xi-Zi, E-mail: liangxizish@hotmail.com [Department of Pathology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Shanghai 201999 (China); Zhao, Jiang-Min, E-mail: zhaojiangmin1962@hotmail.com [Department of Radiology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Shanghai 201999 (China)

    2016-10-15

    Objective: To retrospectively compare focal interstitial fibrosis (FIF), atypical adenomatous hyperplasia (AAH), adenocarcinoma in situ (AIS), and minimally invasive adenocarcinoma (MIA) with pure ground-glass opacity (GGO) using thin-section computed tomography (CT). Materials and methods: Sixty pathologically confirmed cases were reviewed including 7 cases of FIF, 17 of AAH, 23of AIS, and 13 of MIA. All nodules kept pure ground glass appearances before surgical resection and their last time of thin-section CT imaging data before operation were collected. Differences of patient demographics and CT features were compared among these four types of lesions. Results: FIF occurred more frequently in males and smokers while the others occurred more frequently in female nonsmokers. Nodule size was significant larger in MIA (P < 0.001, cut-off value = 7.5 mm). Nodule shape (P = 0.045), margin characteristics (P < 0.001), the presence of pleural indentation (P = 0.032), and vascular ingress (P < 0.001) were significant factors that differentiated the 4 groups. A concave margin was only demonstrated in a high proportion of FIF at 85.7% (P = 0.002). There were no significant differences (all P > 0.05) in age, malignant history, attenuation value, location, and presence of bubble-like lucency. Conclusion: A nodule size >7.5 mm increases the possibility of MIA. A concave margin could be useful for differentiation of FIF from the other malignant or pre-malignant GGO nodules. The presence of spiculation or pleural indentation may preclude the diagnosis of AAH.

  14. JP-HHT phenotype in Danish patients with SMAD4 mutations

    DEFF Research Database (Denmark)

    Jelsig, A M; Tørring, P M; Kjeldsen, A D

    2016-01-01

    Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14...

  15. A population-based study of hereditary non-polyposis colorectal cancer: evidence of pathologic and genetic heterogeneity.

    Science.gov (United States)

    Warden, G; Harnett, D; Green, J; Wish, T; Woods, M O; Green, R; Dicks, E; Rahman, P; Zhai, G; Parfrey, P

    2013-12-01

    Hereditary non-polyposis colorectal cancer (HNPCC) may be the result of Lynch syndrome (LS) caused by mutations in mismatch repair (MMR) genes, a syndrome of unknown etiology called familial colorectal cancer type-X (FCCTX), or familial serrated neoplasia associated with the colorectal cancer (CRC) somatic BRAF mutation. To determine the cause of HNPCC in the founder population of the island of Newfoundland, we studied 37 families with LS and 29 families without LS who fulfilled the Amsterdam I criteria. In non-LS, four index CRCs were BRAF mutation positive, one of which was microsatellite instable. Geographic clustering of LS families caused by three different founder mutations in MSH2 was observed. Nine unique MMR mutations in four MMR genes were identified in single families distributed in different geographic isolates. The geographic distribution of non-LS was similar to LS. The coefficient of relatedness using genotype data was significantly higher for non-LS than for all CRC. Extensive genealogic investigation failed to connect non-LS families and in some clusters pathologic CRC heterogeneity was observed. We conclude that non-LS HNPCC may be a heterogeneous disorder with different pathogenic pathways, and that the geographic distribution is consistent with multiple different mutations in unknown CRC susceptibility gene(s). © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report

    Directory of Open Access Journals (Sweden)

    Mai Phuong L

    2007-03-01

    Full Text Available Abstract Background Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome. Case presentation The patient was diagnosed with a left testicular seminoma at age 28, and treated with left orchiectomy followed by adjuvant cobalt radiation. His family history is significant for testicular seminoma in his son, bladder cancer in his sister, and lipomatosis in his father. His evaluation as part of an etiologic study of familial testicular cancer revealed multiple colon polyps (adenomatous, hyperplastic, and hamartomatous first found in his 50 s, multiple lipomas, multiple hyperpigmented skin lesions, left kidney cancer diagnosed at age 64, and a growth-hormone producing pituitary adenoma with associated acromegaly diagnosed at age 64. The patient underwent genetic testing for Cowden syndrome (PTEN gene, Carney complex (PRKAR1A gene, and multiple endocrine neoplasia syndrome type 1 (MEN1 gene; no deleterious mutations were identified. Discussion The constellation of benign and malignant neoplasms in the context of this patient's familial testicular cancer raised the possibility that these might be manifestations of a known hereditary susceptibility cancer syndrome; however, genetic testing for the three syndromes that were most likely to explain these findings did not show any mutation. Alternatively, this family's phenotype might represent a novel neoplasm susceptibility disorder. This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.

  17. Familial colorectal cancer: Patient assessment, surveillance and surgical management.

    Science.gov (United States)

    Kennelly, R P; Gryfe, R; Winter, D C

    2017-02-01

    Germline mutations account for 5-10% of colorectal cancer. Most mutations are autosomal dominant with high penetrance and affected patients benefit greatly from appropriate treatment. This review presents the current knowledge regarding familial colorectal cancer and provides practical information based on international guidelines and the best available evidence regarding patient assessment, surveillance and surgical management. Surgeons are often the first point of contact and frequently, the main provider of care for families with cancer syndromes or patients with familial cancer. Patients with a polyposis phenotype should undergo appropriate genetic testing. In non-polyposis patients with a cancer diagnosis, tumor testing for Lynch syndrome can guide the use of genetic testing. In patients without a personal history of cancer or polyposis, a carefully obtained family history with testing of available tumor tissue or of a living relative affected by colorectal cancer informs the need for genetic testing. Surveillance and surgical management should be planned following thorough assessment of familial cancer risk. Evidence exists to provide guidance as to the surveillance strategies required, the specific indications of genetic testing and the appropriate timing of operative intervention. A carefully obtained family history with selective genetic testing should inform surveillance and surgical management in patients who have a genetic predisposition for the development of colorectal cancer. Copyright © 2016 Elsevier Ltd, BASO ~ The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.

  18. A healthy lifestyle index is associated with reduced risk of colorectal adenomatous polyps among non-users of non-steroidal anti-inflammatory drugs.

    Science.gov (United States)

    Tabung, Fred K; Steck, Susan E; Burch, James B; Chen, Chin-Fu; Zhang, Hongmei; Hurley, Thomas G; Cavicchia, Philip; Alexander, Melannie; Shivappa, Nitin; Creek, Kim E; Lloyd, Stephen C; Hebert, James R

    2015-02-01

    In a Columbia, South Carolina-based case-control study, we developed a healthy lifestyle index from five modifiable lifestyle factors (smoking, alcohol intake, physical activity, diet, and body mass index), and examined the association between this lifestyle index and the risk of colorectal adenomatous polyps (adenoma). Participants were recruited from a local endoscopy center and completed questionnaires related to lifestyle behaviors prior to colonoscopy. We scored responses on each of five lifestyle factors as unhealthy (0 point) or healthy (1 point) based on current evidence and recommendations. We added the five scores to produce a combined lifestyle index for each participant ranging from 0 (least healthy) to 5 (healthiest), which was dichotomized into unhealthy (0-2) and healthy (3-5) lifestyle scores. We used logistic regression to calculate odds ratios (OR) and 95% confidence intervals (CI) for adenoma with adjustment for multiple covariates. We identified 47 adenoma cases and 91 controls. In the main analyses, there was a statistically nonsignificant inverse association between the dichotomous (OR 0.54; 95% CI 0.22, 1.29) and continuous (OR 0.75; 95% CI 0.51, 1.10) lifestyle index and adenoma. Odds of adenoma were significantly modified by the use of non-steroidal anti-inflammatory drugs (NSAIDs) (p(interaction) = 0.04). For participants who reported no use of NSAIDs, those in the healthy lifestyle category had a 72% lower odds of adenoma as compared to those in the unhealthy category (OR 0.28; 95% CI 0.08, 0.98), whereas a one-unit increase in the index significantly reduced odds of adenoma by 53% (OR 0.47; 95% CI 0.26, 0.88). Although these findings should be interpreted cautiously given our small sample size, our results suggest that higher scores from this index are associated with reduced odds of adenomas, especially in non-users of NSAIDs. Lifestyle interventions are required to test this approach as a strategy to prevent colorectal adenomatous

  19. Relationship among expression of basic-fibroblast growth factor ...

    African Journals Online (AJOL)

    Relationship among expression of basic-fibroblast growth factor, MTDH/Astrocyte elevated gene-1, adenomatous polyposis coli, matrix metalloproteinase 9,and COX-2 markers with prognostic factors in prostate carcinomas.

  20. Stages of Colon Cancer

    Science.gov (United States)

    ... under a microscope ). Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). Having a personal history of chronic ulcerative colitis ...

  1. Treatment Option Overview (Colon Cancer)

    Science.gov (United States)

    ... under a microscope ). Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). Having a personal history of chronic ulcerative colitis ...

  2. Stages of Rectal Cancer

    Science.gov (United States)

    ... under a microscope ). Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). Having a personal history of chronic ulcerative colitis ...

  3. The risk of osteoporosis in oral steroid treatment for nasal polyposis

    DEFF Research Database (Denmark)

    Winblad, L; Larsen, C G; Håkansson, K.

    2017-01-01

    BACKGROUND: Systemic glucocorticoids are often used in the treatment of chronic rhinosinusitis with nasal polyps (CRSwNP), and osteoporosis is a well-known complication to steroid treatment, associated with significant morbidity. Nevertheless, the burden of steroid induced osteoporosis is unknown...... the inclusion criteria. Doses and durations of oral steroids were over 5 mg/day for more than 3 months and 1 mg/kg body weight/day for 6 to 10 days for 4 or more courses/year. The prevalence of low bone mass was 39% and 61%, respectively. It was not possible to quantify the overall risk of osteoporosis induced...... in patients with CRSwNP. We aimed to assess the risk of acquiring osteoporosis caused by oral steroids in patients with CRSwNP, and provide recommendations on future research and guidelines. METHODOLOGY: Cochrane Review Database, EMBASE, Ovid Medline, and PubMed were searched for studies including adult...

  4. Herpes viruses and human papilloma virus in nasal polyposis and controls.

    Science.gov (United States)

    Ioannidis, Dimitrios; Lachanas, Vasileios A; Florou, Zoe; Bizakis, John G; Petinaki, Efthymia; Skoulakis, Charalampos E

    2015-01-01

    Chronic rhinosinusitis with nasal polyps is a multifactorial disease entity with an unclear pathogenesis. Contradictory data exist in the literature on the potential implication of viral elements in adult patients with chronic rhinosinusitis. To compare the prevalence of human herpes viruses (1-6) and Human Papilloma Virus in adult patients with chronic rhinosinusitis with nasal polyps and healthy controls. Viral DNA presence was evaluated by real-time polymerase chain reaction application to nasal polyps specimens from 91 chronic rhinosinusitis with nasal polyps patients and nasal turbinate mucosa from 38 healthy controls. Epstein-Barr virus positivity was higher in nasal polyps (24/91; 26.4%) versus controls (4/38; 10.5%), but the difference did not reach significance (p=0.06). Human herpes virus-6 positivity was lower in nasal polyps (13/91; 14.29%) versus controls (10/38; 26.32%, p=0.13). In chronic rhinosinusitis with nasal polyps group, 1 sample was herpes simplex virus-1-positive (1/91; 1.1%), and another was cytomegalovirus-positive (1/91; 1.1%), versus none in controls. No sample was positive for herpes simplex virus-2, varicella-zoster virus, high-risk-human papilloma viruses (16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59) and low-risk-human papilloma viruses (6, 11). Differences in Epstein-Barr virus and human herpes virus-6 positivity among patients with chronic rhinosinusitis with nasal polyps and healthy controls are not statistically significant, weakening the likelihood of their implication in chronic rhinosinusitis with nasal polyps pathogenesis. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  5. Herpes viruses and human papilloma virus in nasal polyposis and controls

    Directory of Open Access Journals (Sweden)

    Dimitrios Ioannidis

    2015-12-01

    Full Text Available ABSTRACT INTRODUCTION: Chronic rhinosinusitis with nasal polyps is a multifactorial disease entity with an unclear pathogenesis. Contradictory data exist in the literature on the potential implication of viral elements in adult patients with chronic rhinosinusitis. OBJECTIVE: To compare the prevalence of human herpes viruses (1-6 and Human Papilloma Virus in adult patients with chronic rhinosinusitis with nasal polyps and healthy controls. METHODS: Viral DNA presence was evaluated by real-time polymerase chain reaction application to nasal polyps specimens from 91 chronic rhinosinusitis with nasal polyps patients and nasal turbinate mucosa from 38 healthy controls. RESULTS: Epstein-Barr virus positivity was higher in nasal polyps (24/91; 26.4% versus controls (4/38; 10.5%, but the difference did not reach significance (p = 0.06. Human herpes virus-6 positivity was lower in nasal polyps (13/91; 14.29% versus controls (10/38; 26.32%,p = 0.13. In chronic rhinosinusitis with nasal polyps group, 1 sample was herpes simplex virus-1-positive (1/91; 1.1%, and another was cytomegalovirus-positive (1/91; 1.1%, versus none in controls. No sample was positive for herpes simplex virus-2, varicella-zoster virus, high-risk-human papilloma viruses (16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59 and low-risk-human papilloma viruses (6, 11. CONCLUSION: Differences in Epstein-Barr virus and human herpes virus-6 positivity among patients with chronic rhinosinusitis with nasal polyps and healthy controls are not statistically significant, weakening the likelihood of their implication in chronic rhinosinusitis with nasal polyps pathogenesis.

  6. Fulminant Pseudomembranous Colitis Presenting as Sigmoid Stricture and Severe Polyposis with Clinical Response to Intracolonic Vancomycin

    OpenAIRE

    Sai Wah Cheung; Kin Kong Li

    2016-01-01

    Clostridium difficile infection (CDI) is the most common cause of antibiotic-associated diarrhea. Severe diseases carry significant morbidities such as septic shock, acute kidney injury, bowel perforation, and mortality. Immunocompromising conditions increase the risk of developing the disease but whether these individuals suffer a more fulminant course or warrant a more potent first-line treatment is still controversial issue. Hereby we report a case of a cirrhotic patient with life-threaten...

  7. The comparasion of microsatellite instability at sporadic colorectal and hereditary non-polyposis colorectal cancers

    Directory of Open Access Journals (Sweden)

    Hadžiavdić Vesna

    2012-01-01

    Full Text Available Somatic mutations of MMR gene are not often present in HNPCC and in sporadic RER+ colorectal cancers. Complete studies were made according to Bethesda and Amsterdam Criteria, and 35 patients belonged to the group with sporadic colorectal cancer, and 9 patients belonged to HNPCC group. The results of our studies showed that there is no significant difference between RER phenotype of HNPCC and sporadic cancer (p>0,05 in regard to microsatellite status. It can be a good indicator that there are so called 'susspected' on HNPCC among sporadic cancers which were not detected yet. The reason for this was an incomplete familial history of illness of patients and as such it was selected as sporadic cancer. Microsatellite analysis together with medical and familial history of illness can be a successful instrument for efficient HNPCC identification. However, successful solving of this problem lies in making an accurate diagnosis in comparative findings, which can be provided by genetic and clinical tests.

  8. Fulminant Pseudomembranous Colitis Presenting as Sigmoid Stricture and Severe Polyposis with Clinical Response to Intracolonic Vancomycin.

    Science.gov (United States)

    Cheung, Sai Wah; Li, Kin Kong

    2016-01-01

    Clostridium difficile infection (CDI) is the most common cause of antibiotic-associated diarrhea. Severe diseases carry significant morbidities such as septic shock, acute kidney injury, bowel perforation, and mortality. Immunocompromising conditions increase the risk of developing the disease but whether these individuals suffer a more fulminant course or warrant a more potent first-line treatment is still controversial issue. Hereby we report a case of a cirrhotic patient with life-threatening pseudomembranous colitis complicated by colonic stricture, initially refractory to standard treatment but with subsequent improvement on intracolonic vancomycin.

  9. Fulminant Pseudomembranous Colitis Presenting as Sigmoid Stricture and Severe Polyposis with Clinical Response to Intracolonic Vancomycin

    Directory of Open Access Journals (Sweden)

    Sai Wah Cheung

    2016-01-01

    Full Text Available Clostridium difficile infection (CDI is the most common cause of antibiotic-associated diarrhea. Severe diseases carry significant morbidities such as septic shock, acute kidney injury, bowel perforation, and mortality. Immunocompromising conditions increase the risk of developing the disease but whether these individuals suffer a more fulminant course or warrant a more potent first-line treatment is still controversial issue. Hereby we report a case of a cirrhotic patient with life-threatening pseudomembranous colitis complicated by colonic stricture, initially refractory to standard treatment but with subsequent improvement on intracolonic vancomycin.

  10. Polipose múltipla familiar: análise de 44 casos tratados no Hospital das Clínicas da FMRP-USP Familiar adenomatosis polyposis: analysis of forty-four cases from the school of medicine of Riberão preto Hospital and Clinics

    Directory of Open Access Journals (Sweden)

    Andreza Regina de B. M. da Silva

    2007-09-01

    Full Text Available Os autores apresentam análise retrospectiva de 44 pacientes com Polipose Múltipla Familiar tratados no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto,Universidade de São Paulo, entre janeiro de 1991 a julho de 2005. Foram estudados aspectos epidemiológicos (idade, sexo, genéticos, principais sintomas, antecedentes pessoais e aspectos envolvendo tratamento cirúrgico e complicações pós-operatórias, comparando os achados com os da literatura correlata. Dos pacientes, 31 são do sexo masculino e 13 do feminino com idade média de 32 anos (14 - 60 anos. Os sintomas prevalentes foram: sangramento intestinal (62,5 %, alteração do hábito intestinal (60%, e com menor freqüência dor abdominal (45 % e emagrecimento (30%. Relataram casos de polipose familiar 67,5% dos pacientes e 62,5% referiram parentes com antecedente de neoplasias (intestinal e extra-intestinal. Cerca de 32,5% dos pacientes já apresentavam neoplasia de cólon na época do diagnóstico da polipose,com idade média de 39 anos. O tratamento cirúrgico foi realizado em 95,4% dos pacientes: 35,7% foram submetidos à proctocolectomia total(9 casos com bolsa ileal em J e 6 casos com ileostomia definitiva e 59,2% a colectomia total com ileorretoanastomose. Atualmente 57% dos pacientes avaliados ainda estão em seguimento com reavaliações periódicas, 7% faleceram e 27% abandonaram o tratamento.The authors present a retrospective analysis of forty-four patients with familiar adenomatosis polyposis treated at the School of Medicine of Ribeirão Preto Hospital and Clinics - University of São Paulo, from January 1991 to July 2005. Epidemiologic (age and gender and genetic aspects were investigated as well as main symptoms, personal history and surgical treatment outcome. Data obtained were compared to the available literature. Our results show that 31 patients were male and 13 female, with average age of 32 years-old (14 to 60 years-old. The main symptoms were

  11. Sulindac treatment in hereditary non-pollyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, Fleur E. M.; Hollema, Harry; van der Zee, Ate G. J.; van der Sluis, Tineke; Ek, Wytske Boersma-van; Kleibeuker, Jan H.

    Non-steroidal anti-inflammatory drugs, e.g. sulindac have been extensively studied for chemoprevention in familial adenomatous polyposis, but not in hereditary non-polyposis colorectal cancer (HNPCC). We evaluated these effects in HNPCC using surrogate end-points for cancer risk. In a randomised

  12. MLPA mutation detection in Argentine HNPCC and FAP families

    NARCIS (Netherlands)

    Gomez, Laura C.; Marzese, Diego M.; Adi, Jose; Bertani, Diego; Ibarra, Jorge; Mol, Bart; Vos, Ivonne Johanna; De Marchi, Gabriela; Roque, Maria

    Colorectal cancer (CC) is the secondary cause of death in the Western countries of which approximately 15% are considered to be hereditary. The hereditary forms are Familial Adenomatous Polyposis (FAP) and Hereditary Non Polyposis Colorectal Cancer (HNPCC) which is the commonest form. The detection

  13. MYH-Associated Polyposis

    Science.gov (United States)

    ... With a Genetic Counselor Collecting Your Family Cancer History Sharing Genetic Test Results with Your Family More Information Colon Cancer Alliance www.ccalliance.org C3: Colorectal Cancer Coalition ...

  14. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... with an assisted reproduction specialist at a fertility clinic. How common is JPS? It is estimated that between 1 in 16,000 and 1 in 100,000 people has JPS. How is JPS diagnosed? A diagnosis of JPS is assumed if a person’s symptoms and family history fits any of the 3 categories listed above. ...

  15. Hereditary Mixed Polyposis Syndrome

    Science.gov (United States)

    ... consider asking the following questions: Does my family history increase my risk of colorectal cancer or other types of cancer? Will you refer me to a genetic counselor or other genetics specialist? Should I consider genetic ... Family Cancer History Sharing Genetic Test Results with Your Family Additional ...

  16. Disappearance of an advanced adenomatous colon polyp after intratumoural injection with Viscum album (European mistletoe) extract: a case report.

    Science.gov (United States)

    von Schoen-Angerer, Tido; Goyert, Andreas; Vagedes, Jan; Kiene, Helmut; Merckens, Harald; Kienle, Gunver S

    2014-12-01

    Extracts of Viscum album (European mistletoe) have immune-stimulatory and cytotoxic effects, with trials showing a well-established effect on the quality of life and prolonged survival in patients with advanced pancreatic cancer. Regression of tumours following intratumoural injection with Viscum album extract has been documented in individual cases. However, its influence on colon polyps has not been investigated. We present the case of a 78-year-old Caucasian male who had undergone hemi-colectomy for a stage IIIC colon cancer but who refused adjuvant chemotherapy. Five years later a newly detected high-grade dysplasia colon adenoma was discovered; however, the adenoma could not be resected endoscopically and the patient did not consent to surgery. Intratumoural injections with Viscum album L extract (Quercus; Iscador®Qu) were administered twice in an attempt to limit tumour growth. Eight months after the second intratumoural injection the adenoma had disappeared and biopsy revealed no intraepithelial dysplasia or adenoma. This is the first report showing complete regression of a colon adenoma after intratumoural injection with Viscum album extract. Prospective studies should evaluate if the treatment effect is reproducible and if this approach could be a useful pre-operative measure for colon adenomas too large for endoscopic resection.

  17. CT findings of solitary fibromatosis in the colon: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Heo, So Young; Lim, Jae Hoon; Kang, Kyung A; Lee, Jeong Ju [Myongji Hospital, Seonam University College of Medicine, Goyang (Korea, Republic of)

    2016-07-15

    Fibromatosis is a rare benign neoplasm that appears as a sporadic lesion or is found in patients with familial adenomatous polyposis. Fewer than 7 cases of intraabdominal solitary fibromatosis arising from the colon have been reported in the English literature. This small number of reported cases may be not only because of the low incidence of the disease but also because of the difficulty in making proper diagnosis. We present here a case of histologically confirmed intraabdominal solitary fibromatosis arising from the colon, with an emphasis on computed tomography findings.

  18. Erythropoietin production by a hepatic adenoma in a patient with severe erythrocytosis.

    Science.gov (United States)

    Vik, Anders; Cui, Guanglin; Isaksen, Vidar; Wik, Trude; Hansen, John-Bjarne

    2009-01-01

    A 53-year-old woman with severe erythrocytosis (hemoglobin concentration 19.5 g/dl and hematocrit 0.59) was admitted to our hospital because of fatigue and headache. The serum erythropoietin (Epo) concentration was 68.6 U/l (reference range; 3.7-31.5). Further investigations excluded polycythemia vera or any lung or heart disease. Radiological examination showed a tumor in the left hepatic lobe. Needle biopsies were performed and the histopathological diagnosis was hepatocellular adenoma. Immunohistochemistry demonstrated erythropoietin expression in the adenomatous cells. Liver adenoma is a rare cause of erythrocytosis. For the first time, we report erythropoietin-positive immunoreactivity in liver adenomatous cells in a patient with erythrocytosis. (c) 2009 S. Karger AG, Basel.

  19. Serrated and Adenomatous Polyp Detection Increases with Longer Withdrawal Time: Results from the New Hampshire Colonoscopy Registry

    Science.gov (United States)

    Robinson, Christina M.; Anderson, Joseph; Weiss, Julia E.; Goodrich, Martha; Onega, Tracy L.; Amos, Christopher I.; Beach, Michael L.

    2014-01-01

    Background Detection and removal of adenomas and clinically significant serrated polyps is critical to the effectiveness of colonoscopy in preventing colorectal cancer. While longer withdrawal time has been found to increase polyp detection, this association, and the use of withdrawal time as a quality indicator, remains controversial. Few studies have reported on withdrawal time and serrated polyp detection. Using data from the New Hampshire Colonoscopy Registry, we examined how an endoscopist’s withdrawal time in normal colonoscopies affects adenoma and serrated polyp detection. Methods We analyzed 7996 colonoscopies performed in 7972 patients between 2009 and 2011 by 42 endoscopists at 14 hospitals, ambulatory surgery centers, and community practices. Clinically significant serrated polyps (CSSPs) were defined as sessile serrated polyps and hyperplastic polyps proximal to the sigmoid. Adenoma and CSSP detection rates were calculated based on median endoscopist withdrawal time in normal exams. Regression models were used to estimate the association of increased normal withdrawal time and polyp, adenoma, and CSSP detection. Results Polyp and adenoma detection rates were highest among endoscopists with 9 minute median normal withdrawal time, while detection of CSSPs reached its highest levels at 8 to 9 minutes. Incident rate ratios for adenoma and CSSP detection increased with each minute of normal withdrawal time above 6 minutes, with maximum benefit at 9 minutes for adenomas (1.50, 95% CI (1.21,1.85)) and CSSPs (1.77, 95% CI (1.15, 2.72)). When modeling was used to set the minimum withdrawal time at 9 minutes, we predicted that adenomas and CSSPs would be detected in 302 (3.8%) and 191 (2.4%) more patients. The increase in detection was most striking for the CSSPs, with nearly a 30% relative increase. Conclusions A withdrawal time of 9 minutes resulted in a statistically significant increase in adenoma and serrated polyp detection. Colonoscopy quality may

  20. The submucosal cushion does not improve the histologic evaluation of adenomatous colon polyps resected by snare polypectomy.

    Science.gov (United States)

    Jovanovic, Ivan; Caro, Carlos; Neumann, Helmut; Lux, Anke; Kuester, Doerthe; Fry, Lucia C; Malfertheiner, Peter; Mönkemüller, Klaus

    2011-10-01

    Although the "submucosal cushion" technique or injection-assisted polypectomy (IAP) is often used to resect colon polyps, little is known on the influence of this technique on histologic interpretation. We aimed to evaluate whether the use of a submucosal cushion improves the histologic and margin evaluation of colon polyps. Consecutive patients undergoing polypectomy with and without IAP were included. An experienced blinded gastrointestinal pathologist evaluated the specimens using standardized criteria. One hundred eleven sessile colon adenomas were analyzed (IAP, n = 65, standard, n = 46). Two-thirds of polyps ranged in size from 10 to 20 mm; the average polyp size was 13.2 mm for IAP and 9.9 mm for standard snare polypectomy (P = .001). The cautery degree, cautery amount, and margin evaluability, did not differ substantially with regard to the resection technique. For polyps ≥10-20 mm, the overall architecture quality was better in polyps resected with standard technique as compared with IAP. The utilization of IAP did not result in a better margin evaluability of the resected polyp. Overall, IAP does not result in a better histologic polyp evaluability. Copyright © 2011 AGA Institute. Published by Elsevier Inc. All rights reserved.

  1. WNT signaling controls expression of pro-apoptotic BOK and BAX in intestinal cancer

    Energy Technology Data Exchange (ETDEWEB)

    Zeilstra, Jurrit; Joosten, Sander P.J. [Department of Pathology, Academic Medical Center, University of Amsterdam (Netherlands); Wensveen, Felix M. [Department of Experimental Immunology, Academic Medical Center, Amsterdam (Netherlands); Dessing, Mark C.; Schuetze, Denise M. [Department of Pathology, Academic Medical Center, University of Amsterdam (Netherlands); Eldering, Eric [Department of Experimental Immunology, Academic Medical Center, Amsterdam (Netherlands); Spaargaren, Marcel [Department of Pathology, Academic Medical Center, University of Amsterdam (Netherlands); Pals, Steven T., E-mail: s.t.pals@amc.uva.nl [Department of Pathology, Academic Medical Center, University of Amsterdam (Netherlands)

    2011-03-04

    Research highlights: {yields} Intestinal adenomas initiated by aberrant activation of the WNT pathway displayed an increased sensitivity to apoptosis. {yields} Expression profiling of apoptosis-related genes in Apc{sup Min/+} mice revealed the differential expression of pro-apoptotic Bok and Bax. {yields} APC-mutant adenomatous crypts in FAP patients showed strongly increased BAX immunoreactivity. {yields} Blocking of {beta}-catenin/TCF-4-mediated signaling in colon cancer cells reduced the expression of BOK and BAX. -- Abstract: In a majority of cases, colorectal cancer is initiated by aberrant activation of the WNT signaling pathway. Mutation of the genes encoding the WNT signaling components adenomatous polyposis coli or {beta}-catenin causes constitutively active {beta}-catenin/TCF-mediated transcription, driving the transformation of intestinal crypts to cancer precursor lesions, called dysplastic aberrant crypt foci. Deregulated apoptosis is a hallmark of adenomatous colon tissue. However, the contribution of WNT signaling to this process is not fully understood. We addressed this role by analyzing the rate of epithelial apoptosis in aberrant crypts and adenomas of the Apc{sup Min/+} mouse model. In comparison with normal crypts and adenomas, aberrant crypts displayed a dramatically increased rate of apoptotic cell death. Expression profiling of apoptosis-related genes along the crypt-villus axis and in Apc mutant adenomas revealed increased expression of two pro-apoptotic Bcl-2 family members in intestinal adenomas, Bok and Bax. Analysis of the colon of familial adenomatous polyposis (FAP) patients along the crypt-to-surface axis, and of dysplastic crypts, corroborated this expression pattern. Disruption of {beta}-catenin/TCF-4-mediated signaling in the colorectal cancer cell line Ls174T significantly decreased BOK and BAX expression, confirming WNT-dependent regulation in intestinal epithelial cells. Our results suggest a feedback mechanism by which

  2. The Comparison of TH1 and TH2 Cytokines Gene Expression in Allergic and Non-Allergic Patients With Nasal Polyps By PCR

    Directory of Open Access Journals (Sweden)

    Javadinia Sh

    2011-12-01

    Full Text Available Background: Too many studies are in the process of determining the probable role of immune system in the etiopathogenesis of nasal polyposis. This study was designed to identify the probable participation of Th1, Th2 lymphocytes in the induction and progression of nasal polyposis.Methods: Seventy-five patients, 42 male and 33 female, with nasal polyposis were examined for total serum IgE, specific serum IgE and reaction to skin test for differentiating allergic from non-allergic participants in Rasoul Akram Hospital during 2010. To determine the possible correlation of allergic reactions in the upper respiratory tract and nasal polyposis, cytokine gene expression was evaluated on the extracted RNA by RT-PCR. The data were analyzed by using c2, independent t-test, correlation and Receiver operating characteristic (ROC curve.Results: The mean age of participants was 38 years (18-81 years. IFN-γ and IL-4 gene expressions were more prevalent in allergic than non-allergic individuals (IFN-γ: 39.5% vs. 14.2%, P=0.3 and IL-4: 44.7% vs. 18.9%, P=0.02, respectively. IL-10 and IL-12 (P35 and P40 fractions genes were not significantly different between the two groups. IL-10 and IL-12 (P35, P40 genes did not differ significantly either.Conclusion: This research suggests that overproduction of cytokines and an imbalance of Th1 and Th2 cell production may play an important role in the pathophysiology of allergic or non-allergic nasal polyp formation. Thus, although nasal polyposis is a multifactorial disease with several different etiological factors, chronic persistent inflammation is undoubtedly a major factor irrespective of the etiology.

  3. Juvenil polypose-syndrom og hereditær hæmoragisk telangiektasi hos en patient med SMAD4-mutation

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Tørring, Pernille Mathiesen; Wikman, Friedrik

    2014-01-01

    Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon...... cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis....

  4. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

    DEFF Research Database (Denmark)

    Aretz, S; Stienen, D; Uhlhaas, S

    2007-01-01

    suspected to have JPS. RESULTS: By direct sequencing of the two genes, point mutations were identified in 30 patients (46% of typical JPS). Using MLPA, large genomic deletions were found in 14% of all patients with typical JPS (six deletions in SMAD4 and three deletions in BMPR1A). Mutation analysis...

  5. When brachytherapy met genetic oncology. Can radiation oncologists improve the detection of hereditary non-polyposis colorectal cancer?

    Science.gov (United States)

    Nguyen, Tan Dat; Delvincourt, Chantal; Gorisse, Marie-Claude; Penet, Clotilde

    2011-01-01

    Between January 1994 and December 2004, 696 patients with localized endometrial carcinoma have been treated at the Institute Jean-Godinot. Patients were selected on the following criteria: histologically proven adenocarcinoma of the endometrium; age at onset under 60 years; patient not deceased at the time of the study. One hundred twelve patients met these criteria and received a mailed specific questionnaire to establish their pedigree. Thirty-one patients (35.5%) were eventually found eligible for a genetic counselling but only 13 patients agreed to be informed later on. According to the obtained pedigrees and MSI test results, 7 genetic tests have been carried out and so far, 3 MMR mutations were detected. This study suggested the feasibility of a step by step screening of endometrial cancers to select patients at risk for Lynch syndrome and for whom a genetic test would be recommended. Authors suggest that either Amsterdam or Bethesda criteria should be systematically used prospectively in every newly diagnosed endometrial cancer and retrospectively using clinical databases available on endometrial cancers. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  6. Mecanismos de ação dos corticosteróides na polipose rinossinusal Mechanism of action of glucocorticoids in nasal polyposis

    Directory of Open Access Journals (Sweden)

    Atílio Maximino Fernandes

    2008-04-01

    Full Text Available Os glicocorticóides (GC são drogas de escolha no tratamento clínico da polipose nasossinusal conforme recomendação da literatura. Entretanto, seus mecanismos de ação nas regressões dos sintomas clínicos e dos pólipos não são totalmente compreendidos. Sabe-se que a administração tópica e ou sistêmica dos glicocorticóides leva a variações na expressão de citocinas, quimiocinas e linfocinas, além das alterações celulares. Assim, os GC suprimem a expressão de citocinas pró-inflamatórias, de quimiocinas, de moléculas de adesão, além de estimular a transcrição de citocinas antiinflamatórias. Citocinas pró-fibróticas como a IL-11, fator básico de crescimento do fibroblasto (b-FGF e fator de crescimento endotelial vascular (VEGF, relacionados com o crescimento do pólipo, também são suprimidos pela ação do GC. Tal ação depende fundamentalmente da interação com os seus receptores (GR, pois alguns indivíduos apresentam algum grau de resistência celular ao seu efeito, que parece estar relacionada com a presença da isoforma b do GR. Genes envolvidos nas fases de produção de imunoglobulinas, apresentação e processamento do antígeno também sofrem ação dos GC de forma variada. OBJETIVOS: Fazer uma revisão da literatura sobre os mecanismos de ação do GC na PNS. CONCLUSÃO: A compreensão desses mecanismos implicará no desenvolvimento de drogas mais eficazes na sua terapêutica.Glucocorticoids (GC are the drugs of choice for the clinical treatment of nasal polyposis, according to the medical literature. Its mechanism of action in the regression of clinical symptoms and polyps, however, is not fully understood. The topical and/or systemic use of glucocorticoids lead to variable expression of cytokines, chemokines and lymphokines, as well as changes in cells. It is known that GC suppresses the expression of pro-inflammatory cytokines, chemokines and adhesion molecules such as ICAM-1 and E-selectin; GC also

  7. An individual with both MUTYH-associated polyposis and Lynch syndrome identified by multi-gene hereditary cancer panel testing: a case report

    Directory of Open Access Journals (Sweden)

    Stephanie A Cohen

    2016-03-01

    Full Text Available The utilization of next-generation sequencing technology to interrogate multiple genes simultaneously is being utilized more frequently in hereditary cancer testing. While this has benefits of reducing cost and allowing clinicians to cast a wide net in the elucidation of their patient’s cancer, panel testing has the potential to reveal unexpected information. We report on a proband with pathogenic variants resulting in two different hereditary colon cancer syndromes.A 39-year-old male with a history of colon cancer, more than 20 colon polyps and a family history of colon cancer presented for genetic counseling. Testing with a 7-gene high-risk hereditary colon cancer panel identified a homozygous pathogenic variant, c.1187G>A (p.Gly396Asp in MUTYH, and a likely pathogenic duplication of exon 7 in MSH2. Since this test result, the proband’s mother was diagnosed with colon cancer; subsequent genetic testing confirmed she also carries the likely pathogenic duplication in the MSH2 gene.Although the cancer risk in individuals who carry multiple pathogenic variants has not been established for combined biallelic MUTYH-associated polyposis and Lynch syndrome, the identification of multiple pathogenic variants does allow for screening for cancers associated with both syndromes and has implications for cancer risk for family members. In particular, this has significant impact on those who test negative for a known familial pathogenic variant, yet could be still be at risk for cancer due to a second pathogenic variant in a family. More information is needed on the frequency of occurrence of multiple pathogenic variants, as well as the phenotypic spectrum when multiple pathogenic variants are present.

  8. Serum MicroRNA profile in patients with colon adenomas or cancer

    OpenAIRE

    Zhang, Yajie; Li, Min; Ding, Yijiang; Fan, Zhimin; Zhang, Jinchun; ZHANG, HONGYING; Jiang, Bin; Zhu, Yong

    2017-01-01

    Background Colon cancer, one of the most common causes of cancer-related deaths, arises from adenomatous polyps. In these years, circulating microRNAs (miRNAs) have attracted increasing attention as novel biomarkers for colon cancers. The dysregulated circulating miRNAs in patients with colon adenomas has not been well-understood. Methods Here, we aimed to identify miRNA profile in the serum of patients with colon adenomas or colon cancer by using microarray. Then we validated eight different...

  9. Cytogenetic comparisons of synchronous carcinomas and polyps in patients with colorectal cancer

    DEFF Research Database (Denmark)

    Bardi, G; Parada, L A; Bomme, L

    1997-01-01

    Thirty tumorous lesions from seven patients with colorectal cancer were short-term cultured and cytogenetically analysed: 16 non-adenomatous polyps, six adenomas, seven carcinomas, including one in polyp, and one lymph node metastasis. Clonal chromosome aberrations were found in 20 samples in 100...... found in carcinomas but not in adenomas, indicating that they might be specifically associated with carcinoma development in the large bowel mucosa. The karyotypic similarity seen between the malignant and benign tumours in the same patient, and also sometimes among non-malignant polyps in the same case...

  10. Study on the origin and nature of the adenomatoid odontogenic tumor by immunohistochemistry Estudo da origem e natureza do tumor odontogênico adenomatóide pela imunoistoquímica

    Directory of Open Access Journals (Sweden)

    Marcelo Macedo Crivelini

    2005-12-01

    Full Text Available The adenomatoid odontogenic tumor (AOT is a clinically benign lesion. Discussions about the AOT hamartomatous or neoplastic nature, and the probable odontogenic epithelial cell it originates from still exist. This research aimed to study and discuss the subject by the immunohistochemical detection of cytokeratins, laminin, collagen IV, PCNA and p53 in 8 tumor samples and 8 dental follicle samples containing reduced enamel epithelium. The results have shown that CK14 labelling indicated differentiation grades for secreting ameloblasts or ameloblasts in the post-secreting stage in the adenomatoid structure of AOT. Laminin, found on the luminal surface of adenomatoid structures, was compatible with the reduced enamel epithelium during the "protective stage of amelogenesis". PCNA specifically labelled the spindled areas and peripheral cords of the AOT, indicating that these areas are responsible for tumor growth. After considerations about pathogenesis, the authors suggested that the nature of AOT is hamartomatous with histogenesis from the reduced enamel epithelium.O tumor odontogênico adenomatóide (TOA é uma lesão clinicamente benigna, cujas discussões acerca de sua natureza hamartomatosa ou neoplásica, e provável célula epitelial odontogênica de origem ainda existem. Este projeto de pesquisa teve por objetivo estudar o assunto através da detecção imuno-histoquímica das citoqueratinas, laminina, colágeno IV, PCNA e p53, utilizando-se para isso 08 amostras do tumor e 08 amostras de folículo pericoronário contendo epitélio reduzido do órgão do esmalte (EROE. Os resultados mostraram que a marcação da CK14 sinalizou graus de diferenciação para ameloblastos secretores ou pós-secretores nas estruturas adenomatóides do TOA, e a laminina presente em sua superfície luminal foi compatível com o EROE durante o "estágio protetor" da amelogênese. O PCNA marcou especificamente áreas enoveladas e cordões periféricos do TOA

  11. Avaliação da concordância interobservadores na análise da polipose nasossinusal por meio da tomografia computadorizada Evaluation of the concordance between observers in sinunasal polyposis through computed tomographic analysis

    Directory of Open Access Journals (Sweden)

    Elaine A. Mendes

    2004-08-01

    Full Text Available Polipose nasossinusal (PNS é uma entidade de etiologia controversa, caracterizada por uma condição inflamatória da superfície mucosa das fossas nasais e seios paranasais, bilateralmente. A queixa principal do paciente consiste na obstrução nasal e, ao exame físico, observam-se freqüentemente massas polipóides ocupando as cavidades nasais em extensões variáveis. Além da rinoscopia anterior e da endoscopia nasal, o uso da tomografia computadorizada (TC torna-se necessário para avaliação das fossas nasais e da presença ou não do acometimento dos seios paranasais por essas massas, bem como a sua extensão. Este trabalho tem como objetivo avaliar a concordância interobservadores, por meio da análise da tomografia computadorizada, de 32 casos de PNS. FORMA DE ESTUDO: Clínico prospectivo. CASUÍSTICA E MÉTODOS: Foram avaliadas 32 TC de pacientes portadores PNS por dois observadores experientes, separadamente, em relação à presença ou não de 3 sinais tomográficos sugestivos dessa doença: (1 alargamento infundibular do complexo ostiomeatal, (2 abaulamento lateral da lâmina papirácea e (3 apagamento do trabeculado ósseo etmoidal. RESULTADOS: Observou-se Qui-quadrado não significante para o primeiro e segundo sinais (p=0,7055 e p=0,2057 e significante para o terceiro (p=0,0040. Contudo, o coeficiente de correlação de Kendall entre os dois observadores foi significante para os três sinais tomográficos acima citados (pSinonasal polyposis (SNP is a condition with a controversial aethiology, known by bilaterally inflammatory mucous membranes of nasal and paranasal sinuses. The major patient's complaint is nasal obstruction, and polypoid masses in different sizes can be found during nasal cavity examination. Beyond anterior rhinoscophy and nasal endoscopy, screening sinus computed tomography (SSCT is necessary to measure the size and the extent of the polyps into nasal cavities and paranasal sinuses. The purpose of this

  12. [Familial non-polyposis colorectal carcinoma (Lynch syndrome) in Germany - analysis of information, advisory service and family screening].

    Science.gov (United States)

    Schneider, R; Rümmele, P; Dechant, S; Hofstädter, F; Lorenz, W; Fürst, A

    2011-01-01

    Lynch syndrome is associated with an increased incidence of colorectal carcinomas and extracolonic neoplasms. Patients fulfilling the "Revised Bethesda criteria" or the Amsterdam Citeria I or II should be screened for DNA mismatch repair deficiency. Mutation carriers and high risk individuals should undergo intensified annual screening, as recommended by the S3 guideline for colorectal carcinoma. All families of the Regensburger study group with a verified mutation were included in this study. Data acquisition was conducted by telephone interviews. We determined the number of family members who had been informed about the diagnosis and how many of them participated in the recommended screening program. Additionally, an information letter was sent to family members providing information about the opportunity of a predictive mutation analysis. 90 family members of 12 families with a total of 42 carcinomas and a mean age of tumor diagnosis of 41.3 years were included. At the beginning of the study 97.4 % of the family members were informed about the diagnosis. In the course of the study the number of family members participating in the mutation analysis increased from 29.5 % to 42.3 %. The number of index patients complying with the recommended screening program was over 90 %, in contrast to the number of family members which varied between 30 - 60 %. Relatives of index patients are not sufficiently informed about the importance of predictive testing and the re-commended surveillance guidelines. An insufficient implementation of Lynch syndrome specific aspects of the S3-guideline can be assumed. For an improved implementation barriers of physicians' adherence must be systemically analyzed. It is essential for these high-risk families to establish and enforce awareness in order to create intensified surveillance. © Georg Thieme Verlag KG Stuttgart · New York.

  13. Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer

    DEFF Research Database (Denmark)

    Ripa, Rasmus S.; Katballe, Niels; Wikman, Friedrik P.

    2005-01-01

    , identified after mutation screening of MSH2 and MLH1. All patients in the families were haplotyped using markers flanking the MSH2 gene. The haplotypes revealed that the five families with high probability descended from only two founders. The N596del segregated with the HNPCC phenotype with lod scores of 3....... The results support the hypothesis that N596del is the disease causing mutation and not a clinically silent variation. On this basis, the application of the MSH2 N596del mutation, in presymptomatic screening of HNPCC families, is recommended....

  14. Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue

    Directory of Open Access Journals (Sweden)

    Dourisboure Ricardo J

    2006-01-01

    Full Text Available Abstract Background Hereditary non-polyposis colon cancer (HNPCC is an autosomal dominant syndrome predisposing to the early development of various cancers including those of colon, rectum, endometrium, ovarium, small bowel, stomach and urinary tract. HNPCC is caused by germline mutations in the DNA mismatch repair genes, mostly hMSH2 or hMLH1. In this study, we report the analysis for genetic counseling of three first-degree relatives (the mother and two sisters of a male who died of colorectal adenocarcinoma at the age of 23. The family fulfilled strict Amsterdam-I criteria (AC-I with the presence of extracolonic tumors in the extended pedigree. We overcame the difficulty of having a proband post-mortem non-tumor tissue sample for MSI testing by studying the alleles carried by his progenitors. Methods Tumor MSI testing is described as initial screening in both primary and metastasis tumor tissue blocks, using the reference panel of 5 microsatellite markers standardized by the National Cancer Institute (NCI for the screening of HNPCC (BAT-25, BAT-26, D2S123, D5S346 and D17S250. Subsequent mutation analysis of the hMLH1 and hMSH2 genes was performed. Results Three of five microsatellite markers (BAT-25, BAT-26 and D5S346 presented different alleles in the proband's tumor as compared to those inherited from his parents. The tumor was classified as high frequency microsatellite instability (MSI-H. We identified in the HNPCC family a novel germline missense (c.1864C>A mutation in exon 12 of hMSH2 gene, leading to a proline 622 to threonine (p.Pro622Thr amino acid substitution. Conclusion This approach allowed us to establish the tumor MSI status using the NCI recommended panel in the absence of proband's non-tumor tissue and before sequencing the obligate carrier. According to the Human Gene Mutation Database (HGMD and the International Society for Gastrointestinal Hereditary Tumors (InSiGHT Database this is the first report of this mutation.

  15. Adenosine deaminase, xanthine oxidase, uric acid, and nitric oxide metabolism in the pathogenesis of disease in patients with colon polyps

    Directory of Open Access Journals (Sweden)

    Rafet Mete

    2014-03-01

    Full Text Available Objective: Protrusion of colonic mucosa to the lumen is called polyp. Since adenomatous polyps are neoplastic polyps, determining the factors contributing to the pathogenesis of the disease would be helpful in terms of reducing mortality and morbidity. Variety studies have showed that increased oxidative stress might play an important role in carcinogenesis. The aim of this study was to investigate the relationship between adenosine deaminase, xanthine oxidase nitric oxide, uric acid levels and oxidative stress in patients with colonic polyps to help the elucidation of pathophysiology of the disease. Methods: The study was conducted at Gastroenterology Clinics of Namik Kemal University Training and Research Hospital. Thirty-five subjects who underwent colonoscopy because of any gastrointestinal symptom and whose pathologic evaluation of colonoscopic biopsy revealed adenomatous polyps were enrolled as patient group. Control group was consisted of 36 healthy subjects. Uric acid was measured by an autoanalyzer using photometric method. Adenosine deaminase, xanthine oxidase, and nitric oxide were measured manually using a spectrophotometric method. Results: Xanthine oxidase, uric acid, and nitric oxide levels were found to be significantly higher in patients with colonic polyp compared that of the healthy controls. (p = 0.007; p = 0.02; p<0.001, respectively.Although adenosine deaminase levels were significantly higher in patient group, the difference was not statistically significant (p = 0.07 Conclusion: Increased serum levels of adenosine deaminase, xanthine oxidase, nitric oxide, and uric acid levels in patients with colonic adenomatous polyp may indicate the increased oxidative stress and the oxidative impairment of the colonic mucosa which may play an important role in the pathophysiology of the disease. Further studies would be useful to assess antioxidant treatment options in these patients.

  16. Giant desmoid tumor of the abdominal wall in a patient with Gardner Syndrome

    OpenAIRE

    Santana, Daniel Paulino; Figueiredo, Juliano Alves; Meyer, Matheus Matta Machado Mafra Duque Estrada; Ferreira, Paula Mendonça Pimenta; Valente, Guilherme Sousa Sarmento; Reis, Marcos Wanderley Campos

    2012-01-01

    Gardner syndrome (GS) is a rare entity characterized by a triad of familial colonic polyposis, multiple osteomas and soft tissue tumors, including desmoid tumor (DT). This is a case report of a 30 year-old patient with GS who developed giant DT in the abdominal wall after undergoing several laparotomies. The patient has taken a long time to search for medical care, and at first he saw another team that refused to operate him by judging the lesion unresectable. The surgery in our department wa...

  17. Rectal carcinoma after radiotherapy for cervical carcinoma in patients with a family history of colorectal carcinoma: report of two cases.

    Science.gov (United States)

    Melichar, B; Ryska, A; Krepelová, A; Holecková, P

    2007-01-01

    Rectal carcinoma is a rare, but well documented late complication of pelvic irradiation. Little is known about the factors predisposing to the development of radiation-associated rectal carcinoma. We present two patients who developed rectal carcinoma 17 and 26 years after radiotherapy for carcinoma of the uterine cervix. In one patient, mutation in exon 4 of the hMLH1 gene was detected. Radiation-associated rectal carcinoma represents a rare late toxicity of radiotherapy for cervical carcinoma that may occur in patients with a family history of colorectal carcinoma, including hereditary non-polyposis colorectal cancer.

  18. Parathyroid hormone-related peptide plasma concentrations in patients on hemodialysis

    DEFF Research Database (Denmark)

    Nordholm, Anders; Rix, M.; Olgaard, K.

    2014-01-01

    /paracrine function in the parathyroids, but it is still uncertain if PTHrP is a secretory product of the gland and thereby possess endocrine actions. In cells of severe adenomatous secondary hyperparathyroidism PTHrP and PTH have been found to be co-localized in the same secretory granules. PTH and PTHrP act through......BACKGROUND: Uremic patients develop hyperplasia of the parathyroid glands due to disturbances in the mineral metabolism. The hyperplastic parathyroids are associated with significant expression of parathyroid hormone (PTH)-related peptide (PTHrP). PTHrP has been shown to have an autocrine...... not derive from the uremic hyperplastic parathyroid glands...

  19. Analysis of APC allelic imbalance/loss of heterozygosity and APC protein expression in cutaneous squamous cell carcinomas.

    LENUS (Irish Health Repository)

    Gray, Sarah E

    2011-05-01

    The adenomatous polyposis coli (APC) gene is a tumor suppressor gene which is mutated in the hereditary disease, familial adenomatous polyposis (FAP). Somatic mutations of the APC gene have also been identified in the majority of sporadic colorectal carcinomas, and mutation of the APC gene appears to be an early step in the initiation of colon cancer. Loss of heterozygosity (LOH) of APC has been described in a variety of other cancer types, including renal cell carcinoma, gastric cancer, non-small cell lung cancer, endometrial cancer and oral squamous cell carcinomas (SCC).

  20. Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

    Directory of Open Access Journals (Sweden)

    Vesela Kamila

    2007-04-01

    Full Text Available Abstract Background Germline mutations in the adenomatous polyposis gene (APC result in familial adenomatous polyposis (FAP. FAP is an autosomal dominantly inherited disorder predisposing to colorectal cancer. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extracolonic manifestations. An attenuated form of polyposis (AFAP is characterized by less than 100 adenomas and later onset of the disease. Methods Here, we analyzed the APC gene for germline mutations in 59 Czech and 15 Slovak FAP patients. In addition, 50 apparently APC mutation negative Czech probands and 3 probands of Slovak origin were screened for large deletions encompassing the APC gene. Mutation screening was performed using denaturing gradient gel electrophoresis and/or protein truncation test. DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. Screening for large deletions was performed by multiplex ligation dependent probe amplification. The extent of deletions was analyzed using following microsatellite markers: D5S299, D5S82, D5S134 and D5S346. Results In the set of Czech and Slovak patients, we identified 46 germline mutations among 74 unrelated probands. Total mutation capture is 62,2% including large deletions. Thirty seven mutations were detected in 49 patients presenting a classical FAP phenotype (75,5% and 9 mutations in 25 patients with attenuated FAP (36%. We report 20 novel germline APC mutations and 3 large deletions (6% encompassing the whole-gene deletions and/or exon 14 deletion. In the patients with novel mutations, correlations of the mutation localization are discussed in context of the classical and/or attenuated phenotype of the disease. Conclusion The results of the molecular genetic testing are used both in the establishment of the predictive diagnosis and in the clinical management of patients. In some cases this study has also shown the difficulty to classify clinically

  1. Gastric polyps and polypoid lesions: Retrospective analysis of 36650 endoscopic procedures in 29940 patients.

    Science.gov (United States)

    Vatansever, Sezgin; Akpınar, Zehra; Alper, Emrah; İpek, Serkan; Yazıcıoğlu, Nafi; Ekinci, Neşe; Ünsal, Belkıs

    2015-03-01

    The frequency of gastric polyps increases with the widespread use of endoscopy for diagnosis and treatment. As gastric polyps can be malignant or premalignant, histopathological evaluation is needed. The aim of this study is to determine the prevalence and characteristics of gastric polyps in patients undergoing endoscopy. This study consisted of a retrospective analysis of 36650 consecutive endoscopy and associated pathology reports of 29940 patients between December 2005 and February 2012 in a tertiary-referral center. Gastric polypoid lesions were detected in 666 (2.22%) patients. Hyperplastic polyps were the most common type of polyps (36.2%), followed by fundic gland polyps (8.3%), inflammatory fibroid polyps (2.4%) and adenomatous polyps (1.9%). Foveolar hyperplasia, neuroendocrine tumor, xanthoma, gastrointestinal stromal tumor, adenocarcinoma and lymphoma were less commonly seen. Malignant transformation was seen in 0.42% of hyperplastic polyps and in 23.1% of adenomatous polyps. Endoscopic appearance of gastric polyps can be variable, distinguishing macroscopically can be misleading. Because of their malignant potential histopathological evaluation is mandatory and polypectomy should be performed whenever possible.

  2. Sexual Function and Body Image are Similar after Laparoscopy-Assisted and Open Ileal Pouch-Anal Anastomosis

    DEFF Research Database (Denmark)

    Kjaer, Mie Dilling; Laursen, Stig Borbjerg; Qvist, Niels

    2014-01-01

    and laparoscopic IPAA; however, there was a tendency toward lower postoperative self-esteem among women compared to men (p = 0.07). We also found a tendency toward a better body image among laparoscopy-treated women compared to open-treated women (p = 0.07). CONCLUSIONS: Although there might be a tendency toward......BACKGROUND: Ileal pouch-anal anastomosis (IPAA) is performed in patients with ulcerative colitis and familial adenomatous polyposis where the majority of patients are sexually active. Laparoscopic surgery is becoming the preferred technique for most colorectal interventions, and we examined...... postoperative sexual function and body image compared to those after open surgery IPAA. METHODS: Patients treated with IPAA in the period from October 2008 to March 2012 were included. Evaluation of sexual function, body image, and quality of life was performed using the Female Sexual Function Index (FSFI...

  3. Patient compliance with surveillance colonoscopy: patient factors and the use of a graded recall system.

    Science.gov (United States)

    Gauci, Chahaya; Lendzion, Rebecca; Phan-Thien, Kim-Chi; King, Denis; Perera, Dayashan S

    2017-12-07

    Surveillance colonoscopy allows for the early detection and improved treatment outcomes in colorectal neoplasms but compliance rates and factors require further investigation. This is a retrospective cohort study examining 816 patients recalled for surveillance colonoscopy at an Australian colorectal practice over a 6-month period. Primary outcome was compliance with colonoscopy within 12 months of recall. The secondary outcome of this study was to identify factors affecting compliance including patient factors and the practices' graded recall system. A total of 715 patients (87.6%) were compliant with recall requests for repeat colonoscopy. Significantly higher compliance rates were noted with a personal history of adenomatous polyps (90.9% versus 85.6%, P = 0.025). Those with private insurance or Department of Veterans Affairs were more likely to be compliant than those publicly funded (89.0% versus 93.3% versus 79.0%, P = 0.007). No statistically significant difference in compliance was shown with a personal history of colorectal cancer, diverticular disease, perianal disease, National Health and Medical Research Council risk category, gender, time associated with the practice or the clinician. There was a significant positive correlation between the number of letters sent and compliance with recall, with 61.8% being compliant after a single letter, and a final cumulative compliance after five letters of 87.6% (R = 0.882, P = 0.048). A graded recall system can achieve compliance rates as high as 87.6% compared to a single letter only achieving 61.8% compliance. A history of adenomatous polyps and insurance status were the only factors shown to result in higher recall compliance. © 2017 Royal Australasian College of Surgeons.

  4. The destruction complex of beta-catenin in colorectal carcinoma and colonic adenoma.

    Science.gov (United States)

    Bourroul, Guilherme Muniz; Fragoso, Hélio José; Gomes, José Walter Feitosa; Bourroul, Vivian Sati Oba; Oshima, Celina Tizuko Fujiyama; Gomes, Thiago Simão; Saba, Gabriela Tognini; Palma, Rogério Tadeu; Waisberg, Jaques

    2016-01-01

    To evaluate the destruction complex of beta-catenin by the expression of the proteins beta-catetenin, adenomatous polyposis coli, GSK3β, axin and ubiquitin in colorectal carcinoma and colonic adenoma. Tissue samples from 64 patients with colorectal carcinoma and 53 patients with colonic adenoma were analyzed. Tissue microarray blocks and slides were prepared and subjected to immunohistochemistry with polyclonal antibodies in carcinoma, adjacent non-neoplastic mucosa, and adenoma tissues. The immunoreactivity was evaluated by the percentage of positive stained cells and by the intensity assessed through of the stained grade of proteins in the cytoplasm and nucleus of cells. In the statistical analysis, the Spearman correlation coefficient, Student's t, χ2, Mann-Whitney, and McNemar tests, and univariate logistic regression analysis were used. In colorectal carcinoma, the expressions of beta-catenin and adenomatous polyposis coli proteins were significantly higher than in colonic adenomas (pcitoplasma e no núcleo das células. Na análise estatística, foram utilizados o coeficiente de correlação de Spearman, os testes t de Student, χ2, Mann-Whitney e de McNemar, e a análise de regressão logística univariada. No carcinoma colorretal, as expressões da betacatenina e da adenomatous polyposis coli foram significativamente maiores do que em adenomas do colo (p<0,001 e p<0,0001, respectivamente). A imunorreatividade das proteínas GSK3β, axina 1 e ubiquitina foi significativamente maior (p=0,03, p=0,039 e p=0,03, respectivamente) no carcinoma colorretal do que no adenoma e na mucosa não neoplásica adjacente. A coloração imuno-histoquímica dessas proteínas não apresentou diferenças significantes em relação às características clinicopatológicas do câncer colorretal e do adenoma. Em adenomas, as menores expressões de betacatenina, axina 1 e GSK3β indicaram que o complexo de destruição da betacatenina estava conservado, enquanto que, no carcinoma

  5. Análise imuno-histoquímica das citoqueratinas em ameloblastoma e tumor odontogênico adenomatóide Immunohistochemical analysis of cytokeratins in ameloblastoma and adenomatoid odontogenic tumor

    Directory of Open Access Journals (Sweden)

    Fernanda Ferreira Lopes

    2005-12-01

    Full Text Available OBJETIVO: O presente trabalho teve por objetivo traçar o perfil das citoqueratinas (CKs 7, 8, 10, 13, 14, 18 e 19 em ameloblastomas e tumor odontogênico adenomatóide (TOA visando contribuir para o entendimento da histogênese desses tumores e somar com os resultados já relatados na literatura. MATERIAL E MÉTODO: do arquivo do Laboratório de Anatomia Patológica do Departamento de Odontologia da Universidade Federal do Rio Grande do Norte (UFRN foi selecionada uma amostra com dez casos de ameloblastomas e oito de TOA para o estudo imuno-histoquímico, utilizando-se anticorpos anti-CKs pelo método da estreptoavidina-biotina. RESULTADOS: Observou-se que nos ameloblastomas a CK 14 esteve presente em todos os casos, enquanto a CK 19 foi observada nas células periféricas (oito casos e nas centrais (cinco casos. Para os TOA, observou-se imunopositividade para a CK 14 em todos os casos, enquanto a CK 19 esteve marcada predominantemente nas células ductais (seis casos. CONCLUSÃO: As citoqueratinas são expressas de forma variada nos ameloblastomas e nos TOA, os quais preservam CK típicas do germe dental em estágios avançados do desenvolvimento, confirmando sua origem exclusiva a partir do epitélio odontogênico e não se evidenciando CK características do epitélio escamoso.OBJECTIVES: The aim of the present study was to describe the immunohistochemical expression of cytokeratins (CKs 7, 8, 10,13, 14, 18 and 19 in the epithelial components of ameloblastomas and adenomatoid odontogenic tumor (AOT. The results were compared and histogenesis discussed. MATERIAL AND METHOD: Specimens of ten ameloblastomas and eight adenomatoid odontogenic tumors were examined by immunohistochemistry using streptavidin-biotin-peroxidase complex method and anti-CKs antibody. The sample was obtained from Department of Oral Pathology, Federal University of Rio Grande do Norte. RESULTS: Immunohistochemical reactivity for CK14 was detected in all cases of

  6. Real-time differentiation of adenomatous and hyperplastic diminutive colorectal polyps during analysis of unaltered videos of standard colonoscopy using a deep learning model.

    Science.gov (United States)

    Byrne, Michael F; Chapados, Nicolas; Soudan, Florian; Oertel, Clemens; Linares Pérez, Milagros; Kelly, Raymond; Iqbal, Nadeem; Chandelier, Florent; Rex, Douglas K

    2017-10-24

    In general, academic but not community endoscopists have demonstrated adequate endoscopic differentiation accuracy to make the 'resect and discard' paradigm for diminutive colorectal polyps workable. Computer analysis of video could potentially eliminate the obstacle of interobserver variability in endoscopic polyp interpretation and enable widespread acceptance of 'resect and discard'. We developed an artificial intelligence (AI) model for real-time assessment of endoscopic video images of colorectal polyps. A deep convolutional neural network model was used. Only narrow band imaging video frames were used, split equally between relevant multiclasses. Unaltered videos from routine exams not specifically designed or adapted for AI classification were used to train and validate the model. The model was tested on a separate series of 125 videos of consecutively encountered diminutive polyps that were proven to be adenomas or hyperplastic polyps. The AI model works with a confidence mechanism and did not generate sufficient confidence to predict the histology of 19 polyps in the test set, representing 15% of the polyps. For the remaining 106 diminutive polyps, the accuracy of the model was 94% (95% CI 86% to 97%), the sensitivity for identification of adenomas was 98% (95% CI 92% to 100%), specificity was 83% (95% CI 67% to 93%), negative predictive value 97% and positive predictive value 90%. An AI model trained on endoscopic video can differentiate diminutive adenomas from hyperplastic polyps with high accuracy. Additional study of this programme in a live patient clinical trial setting to address resect and discard is planned. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. Primary Adenocarcinoma of Ileostomy: Case Report with Review of the Literature

    Directory of Open Access Journals (Sweden)

    Shailesh Mohandas

    2010-01-01

    Full Text Available Primary adenocarcinoma is a rare and late complication following proctocolectomy and ileostomy for ulcerative colitis, familial adenomatous polyposis, Crohn's disease and multifocal colorectal cancer. We report a case of adenocarcinoma of the ileostomy occurring 48 years after proctocolectomy for ulcerative colitis. A review of the literature suggests that there are 39 cases reported in literature and this case reports the longest interval between formation of ileostomy and diagnosis of ileostomy adenocarcinoma. This case also reports lymph node metastasis to the adjacent mesenteric lymph node. The incidence of lymphnode metastasis is 15 percent as per literature. Onces diagnosis is confirmed by biopsy enblock excision with or without stomal relocation is the main stay of treatment. Patient education and regular surveillance of patients with long-standing ileostomy is recommended for early detection of this unusual cancer.

  8. Dietary fat and risk of colon and rectal cancer with aberrant MLH1 expression, APC or KRAS genes.

    NARCIS (Netherlands)

    Weijenberg, M.P.; Luchtenborg, M.; Goeij, A.F. de; Brink, M.; Muijen, G.N.P. van; Bruine, A.P. de; Goldbohm, R.A.; Brandt, P.A. van den

    2007-01-01

    OBJECTIVE: To investigate baseline fat intake and the risk of colon and rectal tumors lacking MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) repair gene expression and harboring mutations in the APC (adenomatous polyposis coli) tumor suppressor gene and in the KRAS (v-Ki-ras2 Kirsten rat

  9. Dysplasia in fundic gland polyps is associated with nuclear beta-catenin expression and relatively high cell turnover rates

    NARCIS (Netherlands)

    Jalving, M.; Koornstra, J.J.; Boersma-van Ek, W.; de Jong, S.; Karrenbeld, A.; Hollema, H.; de Vries, E.G.E.; Kleibeuker, J.H.

    Background: Fundic gland polyps (FGPs) occur in both syndromic and sporadic form. Syndromic FGPs arise through mutations in the adenomatous polyposis coli (APC) gene, whereas sporadic FGPs are caused by beta-catenin gene mutations. Dysplasia in sporadic FGPs, found less often than in syndromic FGPs,

  10. Crypt stem cells as the cells-of-origin of intestinal cancer.

    NARCIS (Netherlands)

    Barker, N.; Ridgway, R.A.; van Es, J.H.; van de Wetering, M.L.; Begthel, H.L.; van den Born, M.M.W.; Danenberg, E.M.; Clarke, A.R.; Sansom, O.J.; Clevers, H.

    2009-01-01

    Intestinal cancer is initiated by Wnt-pathway-activating mutations in genes such as adenomatous polyposis coli (APC). As in most cancers, the cell of origin has remained elusive. In a previously established Lgr5 (leucine-rich-repeat containing G-protein-coupled receptor 5) knockin mouse model, a

  11. Apc Restoration Promotes Cellular Differentiation and Reestablishes Crypt Homeostasis in Colorectal Cancer

    NARCIS (Netherlands)

    Dow, Lukas E; O'Rourke, Kevin P; Simon, Janelle; Tschaharganeh, Darjus F; van Es, Johan H; Clevers, Hans; Lowe, Scott W

    2015-01-01

    The adenomatous polyposis coli (APC) tumor suppressor is mutated in the vast majority of human colorectal cancers (CRC) and leads to deregulated Wnt signaling. To determine whether Apc disruption is required for tumor maintenance, we developed a mouse model of CRC whereby Apc can be conditionally

  12. The use of DNA markers in the pre-clinical diagnosis of familial ...

    African Journals Online (AJOL)

    D5S6), but not probes Pi227 (D5S37) and C11 p11 (D5S71). Haplotype analysis allowed the pre- clinical diagnosis of FAP in 5 subjects. S Atr Med J 1995; 85: 269-271. Familial adenomatous polyposis (FAP) is an autosomal dominant genetic ...

  13. S48 EAST AFRICAN MEDICAL JOURNAL

    African Journals Online (AJOL)

    Genetic analytical techniques were carried out to identify mutations in adenomatous polyposis coli (APC) gene and K-ras oncogene in colorectal tumourigenesis. These two genes are said to be early mutation genes among other mutation genes that constitute the model for colorectal tumourigenesis. To do this analysis, ...

  14. Browse Title Index

    African Journals Online (AJOL)

    Items 101 - 150 of 633 ... Vol 13, No 1 (2003), Child Maltreatment Among Elementary School Children in Jimma Town, Abstract PDF ... Vol 27, No 4 (2017), Coexistence of Peripheral Spondyloarthritis and Familial Adenomatous Polyposis: A Rare Case Report with Treatment Contradictions and Review of the Literature ...

  15. Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders : Comparing questionnaire results with in-depth interviews

    NARCIS (Netherlands)

    DudokdeWit, AC; Tibben, A; Duivenvoorden, HJ; Niermeijer, MF; Passchier, J; Trijsburg, RW; Lindhout, D; Meijers-Heijboer, EJ; Frets, PG; Frets, PG; Lodder, LN; Zoetewij, MW; Klijn, JGM; Brocker-Vriends, A; van Haeringen, A; Helderman, ATJM; Hilhorst-Hofstee, Y; Kant, S; Maat-Kievit, JA; Oosterwijk, JC; van der Smagt, JJ; Vegter-van der Vlis, M; Vries-van der Weerd, MACS; Zoeteweij, MW; Bakker, E; Devilee, P; Losekoot, M; Tops, C; Cornelisse, CJ; Vasen, HFA

    1998-01-01

    In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (Impact of Event Scale), anxiety and depression

  16. A Comparison Between Denaturing Gradient Gel Electrophoresis and Denaturing High Performance Liquid Chromatography in Detecting Mutations in Genes Associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC and the Identification of 9 New Mutations Previously Unidentified by DGGE

    Directory of Open Access Journals (Sweden)

    Meldrum Cliff J

    2003-12-01

    Full Text Available Abstract Denaturing high performance liquid chromatography is a relatively new method by which heteroduplex structures formed during the PCR amplification of heterozygote samples can be rapidly identified. The use of this technology for mutation detection in hereditary non-polyposis colorectal cancer (HNPCC has the potential to appreciably shorten the time it takes to analyze genes associated with this disorder. Prior to acceptance of this method for screening genes associated with HNPCC, assessment of the reliability of this method should be performed. In this report we have compared mutation and polymorphism detection by denaturing gradient gel electrophoresis (DGGE with denaturing high performance liquid chromatography (DHPLC in a set of 130 families. All mutations/polymorphisms representing base substitutions, deletions, insertions and a 23 base pair inversion were detected by DHPLC whereas DGGE failed to identify four single base substitutions and a single base pair deletion. In addition, we show that DHPLC has been used for the identification of 5 different mutations in exon 7 of hMSH2 that could not be detected by DGGE. From this study we conclude that DHPLC is a more effective and rapid alternative to the detection of mutations in hMSH2 and hMLH1 with the same or better accuracy than DGGE. Furthermore, this technique offers opportunities for automation, which have not been realised for the majority of other methods of gene analysis.

  17. High yield of synchronous lesions in referred patients with large lateral spreading colorectal tumors.

    Science.gov (United States)

    Bick, Benjamin L; Ponugoti, Prasanna L; Rex, Douglas K

    2017-01-01

    There are few data on the prevalence of synchronous colorectal lesions in patients who have large lateral spreading tumors (LLSTs). We sought to describe the rate of synchronous lesions found in patients who underwent endoscopic resection of large sessile adenomas and serrated lesions. This is a retrospective assessment of a prospectively created database of 728 consecutive patients with resected LLSTs who underwent complete clearing of the colon during 2 colonoscopies by a single expert endoscopist. The 728 patients with resected LLSTs and complete clearing had 4578 synchronous lesions, including 584 patients (80.2%) with at least 1 synchronous conventional adenoma, 132 (18.1%) with at least 1 synchronous conventional adenoma ≥ 20 mm in size, 294 (40.4%) with at least 1 synchronous advanced conventional adenoma, and 6 patients with a synchronous lesion with cancer. Patients with an index large sessile conventional adenoma compared with those with an index large serrated lesion had on average more synchronous conventional adenomas (4.8 vs 2.9, P = .001) and fewer synchronous serrated lesions (1.4 vs 4.5, P < .001). Of the 97 patients with a serrated class index lesion, 28 (28.9%) met criteria for serrated polyposis. There is a very high prevalence of synchronous lesions, including other large and advanced synchronous lesions, in patients with flat or sessile conventional adenomas and serrated colorectal polyps. Patients with LLSTs in the colon need detailed clearing of the rest of the colon. Patients referred for endoscopic resection of serrated lesions ≥ 20 mm have a very high prevalence of serrated polyposis. This study has potential implications for further stratification of high-risk patient groups in postpolypectomy surveillance guidelines. Copyright © 2017. Published by Elsevier Inc.

  18. How I do it: the stapled ileal J pouch at restorative proctocolectomy.

    LENUS (Irish Health Repository)

    Martin, S T

    2011-12-01

    Ileal pouch-anal anastomosis (IPAA) following proctocolectomy is the preferred option for patients with medically refractory ulcerative colitis, indeterminate colitis, and familial adenomatous polyposis. However, it remains a procedure associated with morbidity and mortality. Pelvic sepsis, pouch fistulae, and anastomotic dehiscence predispose to pouch failure. We report our experience with an adaptation for the formation of the stapled ileal J pouch using the GIA™ 100 stapling device (Covidien, Mansfield, Massachusetts, USA). When creating the J pouch, we remove the bevelled plastic protector from the thin fork of the stapling device, allowing the staple line to be completed to the tip of the stapled efferent limb of the pouch, thereby minimizing potential blind ending in the efferent limb and injury to the transverse staple line.

  19. Anatomic and functional characteristics of the rat ileal pouch.

    Science.gov (United States)

    Chen, Chiung-Nien; McVay, Laila D; Batlivala, Zubin S; Hendren, Samantha K; Swain, Gary P; Salzman, Nita; Williams, Noel N; Rombeau, John L

    2002-04-01

    The definitive operation for chronic ulcerative colitis (UC) and familial adenomatous polyposis is total proctocolectomy with ileal pouch-anal anastomosis (IPAA). Mild inflammation (pouchitis) is omnipresent in pouches and becomes severe in 50% of UC patients with IPAA. The etiology of pouchitis is likely due to combined genetic, microbial, and immunologic factors. Epithelial cell exposure to surgical trauma and/or to changes in intestinal bacterial composition may account for the inflammatory infiltrate. Progress in understanding pouchitis is restricted by the lack of suitable animal models. An ileal pouch-rectal anastomosis [IPRA] in rats was developed to reproduce a model of human IPAA and clinical, gross and histologic criteria were determined. Many shared features with human ileal pouch were observed. IPRA is an important in vivo model to study mechanisms of repair, defense and immunity that may contribute to pouchitis.

  20. Decreased expression of cytochrome P450 protein in non-malignant colonic tissue of patients with colonic adenoma

    DEFF Research Database (Denmark)

    Bergheim, I.; Bode, C.; Parlesak, Alexandr

    2005-01-01

    BACKGROUND: Cytochrome P450 (CYP) enzymes in epithelial cells lining the alimentary tract play an important role in both the elimination and activation of (pro-)carcinogens. To estimate the role of cytochrome P450 in carcinogenesis of the colon, expression patterns and protein levels of four...... representative CYPs (CYP2C, CYP2E1, CYP3A4 and CYP3A5) were determined in colon mucosa of normal and adenomatous colonic tissue of patients with adenomas and disease-free controls. METHODS: Expression of CYP2C, CYP2E1, CYP3A4, and CYP3A5 in colon mucosa of normal and adenomatous colonic tissue of patients...... with adenoma and disease-free controls was determined by RT-PCR. Protein concentration of CYPs was determined using Western blot. RESULTS: With the exception of CYP3A5, expression of CYP mRNA was similar among groups and tissues (e.g. normal colon mucosa and adenoma). CYP3A5 mRNA expression was significantly...

  1. Familial pancreatic cancer: Concept, management and issues

    Science.gov (United States)

    Matsubayashi, Hiroyuki; Takaori, Kyoichi; Morizane, Chigusa; Maguchi, Hiroyuki; Mizuma, Masamichi; Takahashi, Hideaki; Wada, Keita; Hosoi, Hiroko; Yachida, Shinichi; Suzuki, Masami; Usui, Risa; Furukawa, Toru; Furuse, Junji; Sato, Takamitsu; Ueno, Makoto; Kiyozumi, Yoshimi; Hijioka, Susumu; Mizuno, Nobumasa; Terashima, Takeshi; Mizumoto, Masaki; Kodama, Yuzo; Torishima, Masako; Kawaguchi, Takahisa; Ashida, Reiko; Kitano, Masayuki; Hanada, Keiji; Furukawa, Masayuki; Kawabe, Ken; Majima, Yoshiyuki; Shimosegawa, Toru

    2017-01-01

    Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion ( Caucasian) and a younger onset are common also in FPC. In European countries, “anticipation” is reported in FPC families, as with other hereditary syndromes; a trend toward younger age and worse prognosis is recognized in the late years. The resected pancreases of FPC kindred often show multiple pancreatic intraepithelial neoplasia (PanIN) foci, with various K-ras mutations, similar to colorectal polyposis seen in the FAP patients. As with HBOC patients, a patient who is a BRCA mutation carrier with unresectable pancreatic cancer (accounting for 0%-19% of FPC patients) demonstrated better outcome following platinum and Poly (ADP-ribose) polymerase inhibitor treatment. Western countries have established FPC registries since the 1990s and several surveillance projects for high-risk individuals are now ongoing to detect early PCs. Improvement in lifestyle habits, including non-smoking, is recommended for individuals at risk. In Japan, the FPC study group was initiated in 2013 and the Japanese FPC registry was established in 2014 by the Japan Pancreas Society. PMID:28246467

  2. Familial Investigations of Childhood Cancer Predisposition

    Science.gov (United States)

    2018-01-03

    Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

  3. Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps

    Directory of Open Access Journals (Sweden)

    Tescher Paul

    2010-04-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is a hereditary disorder characterized by polyposis along the gastrointestinal tract. Information on adenoma status below the duodenum has previously been restricted due to its inaccessibility in vivo. Capsule Endoscopy (CE may provide a useful adjunct in screening for polyposis in the small bowel in FAP patients. This study aims to evaluate the effectiveness of CE in the assessment of patients with FAP, compared to other imaging modalities for the detection of small bowel polyps. Method 20 consecutive patients with previously diagnosed FAP and duodenal polyps, presenting for routine surveillance of polyps at The Royal Melbourne Hospital were recruited. Each fasted patient initially underwent a magnetic resonance image (MRI of the abdomen, and a barium small bowel follow-through study. Capsule Endoscopy was performed four weeks later on the fasted patient. An upper gastrointestinal side-viewing endoscopy was done one (1 to two (2 weeks after this. Endoscopists and investigators were blinded to results of other investigations and patient history. Results Within the stomach, upper gastrointestinal endoscopy found more polyps than other forms of imaging. SBFT and MRI generally performed poorly, identifying fewer polyps than both upper gastrointestinal and capsule endoscopy. CE was the only form of imaging that identified polyps in all segments of the small bowel as well as the only form of imaging able to provide multiple findings outside the stomach/duodenum. Conclusion CE provides important information on possible polyp development distal to the duodenum, which may lead to surgical intervention. The place of CE as an adjunct in surveillance of FAP for a specific subset needs consideration and confirmation in replication studies. Trial Registration Australian New Zealand Clinical Trials Registry ACTRN12608000616370

  4. The survival of patients with Stage III Colon Cancer is improved in HNPCC compared with sporadic cases. A Danish registry based study

    DEFF Research Database (Denmark)

    Brixen, Line Merrild; Bernstein, Inge Thomsen; Bülow, Steffen

    2013-01-01

    AIM: Patients with hereditary non-polyposis colorectal cancer (HNPCC) seem to have a better prognosis than those with sporadic colon cancer (CC)s. The aim was to compare survival after stage III CC in patients with HNPCC with those having sporadic CC. METHOD: 230 patients with hereditary cancer...... history of cancer. Patient characteristics, geographic differences and survival data were analyzed. RESULTS: The overall survival (OS) was better in HNPCC patients compared to sporadic CC after stratification for sex and age (p=0.02; CI 1.04-1.7). The 5-year survival was 70% in HNPCC patients compared...... from The Danish HNPCC-Register and 3557 patients with sporadic CC from The Danish Colorectal Cancer Database, diagnosed during May 2001-December 2008 were included. HNPCC patients were classified according to Mismatch Repair mutation status and family pedigree. Sporadic cases had no known family...

  5. Intrarectal vaccination with recombinant vaccinia virus expressing carcinoembronic antigen induces mucosal and systemic immunity and prevents progression of colorectal cancer.

    Science.gov (United States)

    Kim-Schulze, Seunghee; Kim, Hong Sung; Wainstein, Alberto; Kim, Dae Won; Yang, Wein Cui; Moroziewicz, Dorota; Mong, Phyllus Y; Bereta, Michal; Taback, Bret; Wang, Qin; Kaufman, Howard L

    2008-12-01

    The gastrointestinal mucosa contains an intact immune system that protects the host from pathogens and communicates with the systemic immune system. Absorptive epithelial cells in the mucosa give rise to malignant tumors although the interaction between tumor cells and the mucosal immune system is not well defined. The pathophysiology of colorectal cancer has been elucidated through studies of hereditary syndromes, such as familial adenomatous polyposis, a cancer predisposition syndrome caused by germline mutations in the adenomatous polyposis coli tumor suppressor gene. Patients with FAP develop adenomas and inevitably progress to invasive carcinomas by the age of 40. To better delineate the role of mucosal immunity in colorectal cancer, we evaluated the efficacy of intrarectal recombinant vaccinia virus expressing the human carcinoembryonic Ag (CEA) in a murine FAP model in which mice are predisposed to colorectal cancer and also express human CEA in the gut. Mucosal vaccination reduced the incidence of spontaneous adenomas and completely prevented progression to invasive carcinoma. The therapeutic effects were associated with induction of mucosal CEA-specific IgA Ab titers and CD8(+) CTLs. Mucosal vaccination was also associated with an increase in systemic CEA-specific IgG Ab titers, CD4(+) and CD8(+) T cell responses and resulted in growth inhibition of s.c. implanted CEA-expressing tumors suggesting communication between mucosal and systemic immune compartments. Thus, intrarectal vaccination induces mucosal and systemic antitumor immunity and prevents progression of spontaneous colorectal cancer. These results have implications for the prevention of colorectal cancer in high-risk individuals.

  6. Frequency of Thyroid Nodules among Patients with Colonic Polyps

    Directory of Open Access Journals (Sweden)

    Cevdet Duran

    2012-01-01

    Full Text Available Aim. Colonic polyps and thyroid nodules are common diseases and their frequency increases with age. In the literature, there is no study investigating the coexistence of colonic polyps and thyroid nodules. Therefore, this study was designed to investigate thyroid nodule prevalence in patients with colonic polyps. Material and Methods. Sixty-six patients with colonic polyps and 146 patients without colonic polyps enrolled into the study. Age and sex matched control group was composed from patients without colonic polyps. Colonoscopic examinations, thyroid ultrasonographies were performed in all patients, and TSH were measured. Results. Male/female ratio in polyp and control groups were 40/26 versus 68/78, respectively (P=0.058. Mean ages were similar in both groups (53.3±11.4 versus, 51.8±11.4, P=0.373. Thyroid nodule was detected in 44 (66.7% patients with polyps and in 61 (41.8% controls (P=0.001. Patients with adenomatous polyps had 5 or more thyroid nodules compared to patients with hyperplastic polyps (P=0.03. Thyroid nodules were more prevalent among patients aged 50 or older compared to 50 years or less (P=0.023. Conclusion. Thyroid nodules were detected more common in patients with colonic polyps. Further studies are needed to clarify this coexistence.

  7. Live imaging of cysteine-cathepsin activity reveals dynamics of focal inflammation, angiogenesis, and polyp growth.

    Directory of Open Access Journals (Sweden)

    Elias Gounaris

    2008-08-01

    Full Text Available It has been estimated that up to 30% of detectable polyps in patients regress spontaneously. One major challenge in the evaluation of effective therapy of cancer is the readout for tumor regression and favorable biological response to therapy. Inducible near infra-red (NIR fluorescent probes were utilized to visualize intestinal polyps of mice hemizygous for a novel truncation of the Adenomatous Polyposis coli (APC gene. Laser Scanning Confocal Microscopy in live mice allowed visualization of cathepsin activity in richly vascularized benign dysplastic lesions. Using biotinylated suicide inhibitors we quantified increased activities of the Cathepsin B & Z in the polyps. More than (3/4 of the probe signal was localized in CD11b(+Gr1(+ myeloid derived suppressor cells (MDSC and CD11b(+F4/80(+ macrophages infiltrating the lesions. Polyposis was attenuated through genetic ablation of cathepsin B, and suppressed by neutralization of TNFalpha in mice. In both cases, diminished probe signal was accounted for by loss of MDSC. Thus, in vivo NIR imaging of focal cathepsin activity reveals inflammatory reactions etiologically linked with cancer progression and is a suitable approach for monitoring response to therapy.

  8. Synchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation.

    LENUS (Irish Health Repository)

    Canney, A

    2012-02-01

    Mutations of DNA mismatch repair genes are characterised by microsatellite instability and are implicated in carcinogenesis. This mutation susceptible phenotype has been extensively studied in patients with hereditary non-polyposis colon carcinoma, but little is known of the contribution of such mutations in other tumour types, particularly non-small-cell lung carcinoma. This report describes the occurrence of two synchronous lung tumours, one mimicking a metastatic colon carcinoma, in a male patient with a history of metachronous colonic carcinoma. Immunohistochemistry supported a pulmonary origin for both lesions. Mismatch repair protein immunohistochemistry showed loss of MSH2 and MSH6 expression in both colonic tumours and in one lung tumour showing enteric differentiation. Subsequent mutational analysis demonstrated a deleterious germline mutation of the MSH2 mismatch repair gene. The significance of these findings and the practical diagnostic difficulties encountered in this case are discussed.

  9. Hypoglycemic Syndrome in a Patient with Proinsulin-Only Secreting Pancreatic Adenoma (Proinsulinoma

    Directory of Open Access Journals (Sweden)

    Gian Paolo Fadini

    2011-01-01

    Full Text Available We describe an unusual case of hypoglycemic syndrome in a 69-year old woman with a proinsulin-only secreting pancreatic endocrine adenoma. The clinical history was highly suggestive of an organic hypoglycemia, with normal or relatively low insulin concentrations and elevated proinsulin levels. Magnetic resonance and computed tomography of the abdomen showed a 1 cm pancreatic nodule and multiple accessory spleens. The diagnosis was confirmed by selective angiography, showing location and vascularization of the nodule, despite no response to intra-arterial calcium. After resection, the hypoglycemic syndrome resolved. The surgical specimen was comprised of a neuroendocrine adenomatous tissue with high proinsulin immunoreactivity. Study of this unusual case of proinsulinoma underlines (i the need to assay proinsulin in patients with hypoglycemia and normal immunoreactive insulin, (ii the differential diagnosis in the presence of accessory spleens, (iii the unresponsiveness to intra-arterial calcium stimulation, and (iv the extensive evaluation needed to reach a final diagnosis.

  10. Poliposis múltiple familiar y carcinoma de colon Multiple familial polyposis and carcinoma of the colon: report of a case

    Directory of Open Access Journals (Sweden)

    María Isabel Villegas

    1989-02-01

    approaches have been proposed; selection of which one to perform depends on age, number of polyps and presence of carcinoma. Every patient with MFP should be studied with upper gastrointestinal endoscopy since there is a high risk of gastric and duodenal polyps; these should also be resected in order to prevent their malignant degeneration.

  11. Quality of life after ileal pouch-anal anastomosis: an evaluation of diet and other factors using the Cleveland Global Quality of Life instrument.

    LENUS (Irish Health Repository)

    Coffey, J C

    2012-02-03

    PURPOSE: Although functional results after ileal pouch-anal anastomosis are excellent, imperfections of function do occur. In this setting, quality-of-life assessment is an invaluable tool in determining overall therapeutic efficacy. We evaluated the impact of dietary restrictions, preoperative diagnosis (ulcerative colitis vs. familial adenomatous polyposis), and pregnancy (after pouch insertion) on quality of life. METHODS: After ethical approval, 64 patients were reviewed (mean age, 31 (range, 15-54) years). Long-term quality of life in patients after ileal pouch-anal anastomosis was assessed using the Cleveland Global Quality of Life instrument or Fazio score. The Cleveland Global Quality of Life score is a novel quality-of-life instrument specifically designed for patients with ileal pouches. Stool frequency and continence were recorded to establish the functional status of this group. RESULTS: Sixty-one patients (95.3 percent) complained of some form of dietary restriction and adopted a fixed dietary regimen. All such patients felt that a breach of this regimen would impinge significantly on their quality of life. Late eating and alcohol were associated with diarrhea, whereas smoking was not. Constipation was infrequently reported. The mean Cleveland Global Quality of Life score of patients with ulcerative colitis (0.81 +\\/- 0.13) was greater than that of patients with ulcerative colitis and a background of pouchitis (0.78 +\\/- 0.16; P = 0.042). Whereas postoperative stool frequency in patients with familial adenomatous polyposis was always higher than the preoperative level (4 vs. 2 movements per day; P = 0.04), the Cleveland Global Quality of Life score of this group was lower than that of ulcerative colitis patients (0.77 vs. 0.81; P = 0.047). The Cleveland Global Quality of Life score of females who had had pregnancies after pouch formation was 0.70, significantly lower (P = 0.039) than that of ulcerative colitis patients, although pouch function was

  12. Monoallelic mutation analysis (MAMA) for identifying germline mutations.

    Science.gov (United States)

    Papadopoulos, N; Leach, F S; Kinzler, K W; Vogelstein, B

    1995-09-01

    Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal allele. Here we report the development of a sensitive and specific diagnostic strategy based on somatic cell hybridization termed MAMA (monoallelic mutation analysis). We have demonstrated the utility of this strategy in two different hereditary colorectal cancer syndromes, one caused by a defective tumour suppressor gene on chromosome 5 (familial adenomatous polyposis, FAP) and the other caused by a defective mismatch repair gene on chromosome 2 (hereditary non-polyposis colorectal cancer, HNPCC).

  13. Mutación fundadora en una familia argentina con cáncer colorrectal hereditario Detection of a founder mutation in an Argentine family with hereditary non polyposis colorectal cancer

    Directory of Open Access Journals (Sweden)

    Laura Gómez

    2010-02-01

    Full Text Available El cáncer colorrectal hereditario no poliposo (CCHNP se relaciona con mutaciones en los genes reparadores de ADN (MLH1, MSH2 y MSH6. La mayoría de estas alteraciones son familia-específicas y su detección suele requerir la secuenciación completa de los genes relacionados. Se detectó una mutación puntual (2269-2270insT en el último codón del gen MLH1 en familias de un área del norte de Italia (Reggio Emilia y su origen se considera debido a un efecto fundador. En este trabajo presentamos una familia mendocina con CCHNP portadora de la misma mutación, cuyos ancestros eran oriundos de Reggio Emilia. Para la detección de la mutación se diseñó una estrategia basada en PCR y posterior corte enzimático. La mutación fue hallada en tres integrantes de la familia estudiada, dos de los cuales no presentaban sintomatología clínica. Estos pacientes fueron seguidos preventivamente mediante colonoscopias. La metodología utilizada en nuestro laboratorio fue específica y sensible para la detección de una mutación previamente registrada y permitió realizar el diagnóstico genético molecular en el país, evitando el envío de muestras al extranjero. Es de importancia destacar que el diagnóstico genético pre-sintomático de cáncer hereditario, enfocado desde un grupo multidisciplinario de profesionales, permite un mejor seguimiento y apoyo a las familias afectadas.Hereditary non polyposis colorectal cancer (HNPCC has been related to mutations in the DNA mismatch repair genes (MLH1, MSH2 y MSH6. Mutation detection analysis requires the complete sequencing of these genes, given the high frequency of family-specific alterations. A point mutation (2269- 2270insT in the last codon of the MLH1 gene has been detected in families from a northern region of Italy (Reggio Emilia.Given that this alteration was registered only in people from this region, it has been considered a founder mutation. In this work, we present an Argentine HNPCC family

  14. The Prevalence of Allergic Rhinitis in Patients with Chronic Rhinosinusitis

    Directory of Open Access Journals (Sweden)

    Mehdi Bakhshaee

    2014-10-01

    Full Text Available Introduction: Chronic rhinosinusitis (CRS is a multifactorial disease. Allergies are considered a predisposing factor to CRS; however, this remains controversial. The objective of this research was to investigate the prevalence of co-morbidities and allergic reaction, and to specify the most common allergens in patients with confirmed CRS.   Materials and Methods: One hundred patients with signs and symptoms of CRS who met the diagnostic endoscopic and radiologic criteria of chronic rhinosinusitis were selected. They filled out a questionnaire and underwent a skin prick test for the common inhalant allergens. Allergic rhinitis was diagnosed according to the history and positive skin prick tests.   Results: The mean age of patients was 34. Males were slightly more involved (54%. The prevalence of polypoid and none-polypoid rhinosinusitis was 54% and 46% respectively. The patients’ most common symptoms were nasal discharge (95%, blockage (94%, smell disorders (63%, cough (45%, halitosis (41%, lethargy (37%, and aural fullness (36%. Allergy to at least one allergen was noted in 64% of the CRS patients which is higher than general population in Mashhad, Iran with allergic rhinitis (22.4%. Salsola was the most common allergen. There was no significant difference in allergic reactions between polypoid and non-polypoid CRS patients.   Conclusion:  Allergic reactions was found in Iranian CRS patients with or without polyposis to be much higher than general population in Mashhad with allergic rhinitis alone.

  15. Specialists’ perceptions of hereditary colorectal cancer screening in Newfoundland and Labrador

    Science.gov (United States)

    MacEachern, J.; Mathews, M.; Green, J.; Pullman, D.

    2012-01-01

    Purpose Colorectal cancer (crc) screening is particularly valuable in Newfoundland and Labrador (NL), where a substantial proportion of crc cases have a hereditary link. We examined the perceptions of gastroenterologists and general surgeons with respect to screening practices for patients with hereditary crc. Methods We surveyed all gastroenterologists and general surgeons in NL to determine demographic and professional practice characteristics and screening knowledge, practices, and attitudes for four groups of patients with hereditary crc. Results Of the 43 eligible physicians, 36 (83.7%) responded. Most of the physicians surveyed knew the correct age to start screening, preferred screening by colonoscopy, had a systematic means in their own practice of prioritizing patients for screening, and felt that family doctors or patients (or both) should be responsible for monitoring screening compliance. Most physicians reported that patients with hereditary nonpolyposis crc and familial adenomatous polyposis waited 3 months for screening; patients with a family history of crc or adenomatous polyp waited 6 months or longer. Although respondents agreed on the need for a province-wide crc registry [4.36 on a 5-point Likert scale (1 = strongly disagree; 5 = strongly agree)], they disagreed that wait times were reasonable (2.81) and that other health professionals should perform colonoscopies (2.86). They were equivocal about the need for centralized bookings (3.25) and about whether genetic testing is useful for prioritizing patients (3.25). Conclusions Gastroenterologists and general surgeons in NL were knowledgeable about screening, but had varying opinions about individual roles in screening, wait times, and the means for prioritizing and providing screening for patients with hereditary crc. PMID:22670101

  16. Specialists' perceptions of hereditary colorectal cancer screening in Newfoundland and Labrador.

    Science.gov (United States)

    Maceachern, J; Mathews, M; Green, J; Pullman, D

    2012-06-01

    Colorectal cancer (CRC) screening is particularly valuable in Newfoundland and Labrador (NL), where a substantial proportion of CRC cases have a hereditary link. We examined the perceptions of gastroenterologists and general surgeons with respect to screening practices for patients with hereditary crc. We surveyed all gastroenterologists and general surgeons in NL to determine demographic and professional practice characteristics and screening knowledge, practices, and attitudes for four groups of patients with hereditary CRC. Of the 43 eligible physicians, 36 (83.7%) responded. Most of the physicians surveyed knew the correct age to start screening, preferred screening by colonoscopy, had a systematic means in their own practice of prioritizing patients for screening, and felt that family doctors or patients (or both) should be responsible for monitoring screening compliance. Most physicians reported that patients with hereditary nonpolyposis CRC and familial adenomatous polyposis waited 3 months for screening; patients with a family history of CRC or adenomatous polyp waited 6 months or longer. Although respondents agreed on the need for a province-wide CRC registry [4.36 on a 5-point Likert scale (1 = strongly disagree; 5 = strongly agree)], they disagreed that wait times were reasonable (2.81) and that other health professionals should perform colonoscopies (2.86). They were equivocal about the need for centralized bookings (3.25) and about whether genetic testing is useful for prioritizing patients (3.25). Gastroenterologists and general surgeons in NL were knowledgeable about screening, but had varying opinions about individual roles in screening, wait times, and the means for prioritizing and providing screening for patients with hereditary CRC.

  17. hereditary non-polyposis colorectal carcinoma (hnpcc)

    African Journals Online (AJOL)

    2011-08-08

    Aug 8, 2011 ... Construction of the family tree showed a very striking picture of colonic cancers in three generations. (Figure 1). Only the two youngest (twins) out of 8 siblings in the second generation had been spared from colon cancer. The ages of the siblings at diagnosis is shown in Table 2. Paraffin tissue blocks from ...

  18. Manuseio de grave diminuição de hemoglobina em paciente jovem, testemunha de Jeová, submetido à proctocolectomia total: relato de caso Manoseo de grave disminución de hemoglobina en paciente joven, testigo de Jehová, sometido a la proctocolectomia total: relato de caso Extreme intraoperative hemodilution in Jehovah’s witness patient submitted total proctocolectomy: case report

    Directory of Open Access Journals (Sweden)

    Luiz Eduardo Imbelloni

    2005-10-01

    family history of adenomatous polyposis. The disease was manifested at eight years of age, characterized by bleeding. At 13 years of age he was submitted to total colectomy. At 17 years of age he was submitted to total proctocolectomy. Patient was prepared with erythropoietin, folic acid, infusion of iron and vitamin B12. Red blood cell count revealed He = 4,200,000/mm³, hemoglobin = 10.5 g/dL, hematocrit = 37% platelets = 273,000/mm³ and normal prothrombin time. Patient was continuously monitored with NIBP, pulse oximetry, capnography and ECG. Anesthesia was induced with propofol, sufentanil, pancuronium and enflurane in closed system. Patient received 7,000 mL lactated Ringer’s and 150 mL of 20% human albumin. Total diuresis was 2,900 mL. Surgery lasted 10 hours and 30 minutes. Patient was referred to the ICU with 20% hematocrit, 2,300,000/mm³ red cells, 4,2 g/dL hemoglobin and was maintained with propofol and atracurium. Next day evaluation revealed 18% hematocrit, 2,050,000/mm³ red cells and 4 g/dL hemoglobin. Patient was extubated 18 hours after surgery and was referred to the ward. Patient started eating four days after surgery and was discharged the 10th postoperative day. Thirty days later patient presented 35% hematocrit, 4,000,000/mm³ red cells and 9.5 g/dL hemoglobin. Six months later he returned for ileostomy closing. Patient was submitted to 12 surgeries without a single blood transfusion. CONCLUSIONS: A good planning of the whole team (clinician, surgeon, anesthesiologist, intensive care staff allows us to perform surgical procedures associated to major blood losses without administering blood.

  19. Novel mechanism for obesity-induced colon cancer progression

    OpenAIRE

    Birmingham, Janette M; Busik, Julia V.; Hansen-Smith, Fay M.; Fenton, Jenifer I

    2009-01-01

    Adipose tissue secretes factors linked to colon cancer risk including leptin. A hallmark of cancer is sustained angiogenesis. While leptin promotes angiogenesis in adipose tissue, it is unknown whether leptin can induce epithelial cells to produce factors that may drive angiogenesis, vascular development and therefore cancer progression. The purpose of this study was to compare the effects of leptin-stimulated colon epithelial cells differing in adenomatous polyposis coli (Apc) genotype (gate...

  20. High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer.

    Science.gov (United States)

    Mork, Maureen E; You, Y Nancy; Ying, Jun; Bannon, Sarah A; Lynch, Patrick M; Rodriguez-Bigas, Miguel A; Vilar, Eduardo

    2015-11-01

    Established guidelines recommend evaluation for hereditary cancer syndromes in patients younger than 50 years diagnosed with colorectal cancer (CRC). This group has been well described in the literature; however, patients diagnosed as adolescents and young adults are not well represented in CRC studies. Here, we define the clinical profile, including the extent of hereditary cancer syndromes and family history of cancer, in patients diagnosed with CRC at age 35 or younger. We reviewed patients who underwent genetic counseling at our institution during 5 years (2009 to 2013). Data were collected regarding demographics, clinicopathologic information, tumor and genetic testing, and family history. Patients with an identified hereditary cancer syndrome were compared with those without a syndrome. Of the 193 patients with evaluable data, 35% had an identifiable hereditary cancer syndrome, including 23 with Lynch syndrome, 22 with mutation-negative Lynch syndrome, 16 with familial adenomatous polyposis, two with constitutional mismatch repair deficiency, two with biallelic MUTYH mutations, and one with Li-Fraumeni syndrome. Patients without a hereditary syndrome more frequently presented with metastatic disease, whereas patients with a syndrome were more likely to present at earlier stages and to have a family history of cancer. Nevertheless, a substantial proportion of the hereditary syndromes (19%) were diagnosed in individuals with no family history of the disease. We conclude that patients diagnosed with CRC at age 35 years or younger should receive genetic counseling regardless of their family history and phenotype. © 2015 by American Society of Clinical Oncology.

  1. in pediAtriC CystiC FiBrosis pAtients

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    Zuzanna Gorski

    2016-12-01

    Full Text Available Introduction. Cystic fibrosis (CF is an autosomal recessive disease affecting the epithelial lining of the respiratory tract andexocrine glands (1-5. many children suffering from CF are often diagnosed and treated for various co-morbidities, includingchronic rhinosinusitis (Crs and nasal polyposis (np (3, 4, 6, 7, which will remain the focus of this article.Aim. the aim of this study was to examine the characteristic of patients with cystic fibrosis (CF admitted to the pediatricotolaryngology department due to coexisting chronic rhinosinusitis (Crs or nasal polyposis (np. the study focused on thedemographics, symptoms and management of children with CF with coexisting Crs and/or np. the data was then compared tothe results that had been presented in the literature.Material and methods. A retrospective study of 26 pediatric patients previously diagnosed with CF that were admitted to thedepartment of pediatric otolaryngology of the medical University of Warsaw between 2010 and 2015 was conducted. patients’medical histories were carefully reviewed. data on patients’ age, gender, symptoms and CF comorbidities were collected. thenumber and type of procedures performed on each patient were documented. Further assessment of the localization of polypswas performed in all np-positive patients.Results. the study included 26 patients (15 males and 11 females. mean age was 9 years. Crs and np was present in 100% and88.5% of the patients, respectively. 23 children underwent a total of 35 sinus surgeries due to Crs and/or np. 6 patients requiredone or more revision surgeries, with a total revision rate of 54.1%. Adenoidectomy (At and/or adenotonsillectomy (Att wasperformed in 10 patients. 5 children were disqualified from the surgery, due to various reasons. the most common localizationof np was maxillary sinus, followed by ethmoid sinus, sphenoid sinus, frontal sinus, and nasal cavity.Conclusions. due to a wide range of clinical findings in many organs

  2. Helicobacter pylori infection and precancerous lesions of the stomach.

    Science.gov (United States)

    Haziri, Adem; Juniku-Shkololli, Argjira; Gashi, Zaim; Berisha, Drita; Haziri, Avni

    2010-01-01

    Chronic atrophic gastritis, intestinal metaplasia, hereditary non-polyposos colon cancer, gastric dysplasia, gastric adenoma, Barrett esophagitis and familiar adenomatous polyposis are confirmed precancerous lesions of the stomach. Most of these conditions are correlated with long-term infections with Helicobacter pylori. Patients which were included in our study underwent gastro endoscopy with multiple biopsies from antrum and corpus ventricle, also urease test and histopathological examination, using special coloring for Helicobacter pylori. 802 patients entered this study, of which 369 female and 483 male. Among female patients 56.4% resulted Helicobacter pylori positive, whereas among male patients this was at a rate of 62.6%. The most affected age was 40-49 years, in which group Helicobacter pylori infection was 64.2%. In each precancerous lesion positivity of Helicobacter pylori infection was very high.-in patients with intestinal metaplasia: 71.7%, with gastric dysplasia: 71.4%, with gastric ulcer: 68.4%, with atrophic gastritis: 66.0% and with Barrett esophagitis: 55.0%. The main purpose of this study was to determine the percentage of Helicobacter pylori infection among patients with precancerous lesions, which resulted to be very high. The highest percentage of infection resulted in patients with intestinal metaplasia (71.7%). Precancerous lesions of stomach are associated with high percentage of Helicobacter pylori infection. This confirms once more the importance of Helicobacter pylori eradication in early stages and patient's surveillance.

  3. Polyp detection rate and pathological features in patients undergoing a comprehensive colonoscopy screening

    Science.gov (United States)

    Asadzadeh Aghdaei, Hamid; Nazemalhosseini Mojarad, Ehsan; Ashtari, Sara; Pourhoseingholi, Mohmad Amin; Chaleshi, Vahid; Anaraki, Fakhrosadat; Haghazali, Mehrdad; Zali, Mohammad Reza

    2017-01-01

    AIM To identify the prevalence, and clinical and pathologic characteristic of colonic polyps among Iranian patients undergoing a comprehensive colonoscopy, and determine the polyp detection rate (PDR) and adenoma detection rate (ADR). METHODS In this cross-sectional study, demographics and epidemiologic characteristics of 531 persons who underwent colonoscopies between 2014 and 2015 at Mehrad gastrointestinal clinic were determined. Demographics, indication for colonoscopy, colonoscopy findings, number of polyps, and histopathological characteristics of the polyps were examined for each person. RESULTS Our sample included 295 (55.6%) women and 236 (44.4%) men, with a mean age of 50.25 ± 14.89 years. Overall PDR was 23.5% (125/531). ADR and colorectal cancer detection rate in this study were 12.8% and 1.5%, respectively. Polyps were detected more significantly frequently in men than in women (52.8% vs 47.2%, P Polyps can be seen in most patients after the age of 50. The average age of patients with cancer was significantly higher than that of patients with polyps (61.3 years vs 56.4 years, P polyps were adenomatous. More than 50% of the polyps were found in the rectosigmoid part of the colon. CONCLUSION The prevalence of polyps and adenomas in this study is less than that reported in the Western populations. In our patients, distal colon is more susceptible to developing polyps and cancer than proximal colon. PMID:28251034

  4. Multiple Gastrointestinal Polyps in Patients Treated with BRAF Inhibitors.

    Science.gov (United States)

    Amaravadi, Ravi K; Hamilton, Kathryn E; Ma, Xiaohong; Piao, Shengfu; Portillo, Armando Del; Nathanson, Katherine L; Carlino, Matteo S; Long, Georgina V; Puzanov, Igor; Xu, Xiaowei; Morrissette, Jennifer J D; Tsai, Kenneth Y; Flaherty, Keith T; Sosman, Jeffrey A; Goodman, Grant R; McArthur, Grant A; Rustgi, Anil K; Metz, David C; Schuchter, Lynn M; Chapman, Paul B; Sepulveda, Antonia R

    2015-12-01

    BRAF inhibitors (BRAFi) extend survival in BRAF-mutant melanoma but can promote the growth of Ras-mutant neoplasms. This study determined if gastrointestinal polyps found in BRAFi-treated patients harbored Ras mutations. Colonic and gastric polyps were identified and resected from BRAFi-treated melanoma patients. Next-generation sequencing (NGS) was performed on polyps. The ability of BRAFi to promote polyp formation was functionally characterized in Apc Min(+/-) mice. MAPK and β-catenin pathway activity was assessed by immunohistochemistry in mouse and human polyps. Fourteen patients treated with BRAFi underwent endoscopy to assess for polyps. Seven out of 7 patients >40 years of age and treated for >2 years were found to have colonic tubular adenomas with 4 out of the 7 patients having 5 or more polyps. One patient presented with bleeding from hyperplastic gastric polyps that recurred 6 months after BRAFi rechallenge. NGS performed on polyps found no mutations in MAPK pathway genes, but found APC mutations in all tubular adenomas. A significant increase in the number of polyps was observed in BRAFi-treated compared with control-treated Apc Min(+/-) mice (20.8 ± 9.2 vs 12.8 ± 0.1; P = 0.016). No polyps were observed in BRAFi-treated wild-type mice. BRAFi may increase the risk of developing hyperplastic gastric polyps and colonic adenomatous polyps. Due to the risk of gastrointestinal bleeding and the possibility of malignant transformation, further studies are needed to determine whether or not endoscopic surveillance should be recommended for patients treated with BRAFi. ©2015 American Association for Cancer Research.

  5. Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases.

    Science.gov (United States)

    Chen, Hong-Yu; Jin, Xiao-Wei; Li, Bai-Rong; Zhu, Ming; Li, Jing; Mao, Gao-Ping; Zhang, Ya-Fei; Ning, Shou-Bin

    2017-06-01

    Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyposis. A growing body of evidence has shown that Peutz-Jeghers syndrome could cause an increased risk of various cancers, yet the range of cancer risk estimates was wide among different studies. In this retrospective cohort study, 336 patients with Peutz-Jeghers syndrome in China were enrolled. The clinical characteristics, cancer spectrum, relative cancer risks, and cumulative cancer risks were analyzed. In total, 52 patients were diagnosed of cancer in the follow-up period, at a median age of 41 years (range: 21-67). The relative risk for cancer in Peutz-Jeghers syndrome patients was 63.858 (confidence interval: 47.514-85.823), and the cumulative cancer risk at the age of 60 years was 55%. Colorectal cancer was the most common cancer for Peutz-Jeghers syndrome patients (relative risk: 237.918, confidence interval: 154.417-366.572) and the cumulative cancer risk at the age of 60 years was 28%. There was a statistically significant difference in the cumulative cancer risk between patients with family history and those without family history, as well as between patients living in rural area and those living in urban areas ( p risk was found ( p > 0.05). Hopefully, our study may contribute to the management of this rare disorder and establishment of related surveillance projects, especially in China.

  6. Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital.

    Science.gov (United States)

    Márquez-Rodas, I; Lobo, M; Flores-Sanchez, C; Sanz, M; Luque, S; Lizarraga, S; González-Asanza, C; Pajares, J A; Peligros, M I; Bueno, O; Mata, C; Lopez, C; López-Tarruella, S; Jerez, Y; Muñoz-Martin, A; Blanco, M; Die-Trill, M; Justel, J P; Solera, J; Martin, M

    2017-01-01

    To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients. Lynch syndrome and adenomatous polyposis were the most frequent syndromes diagnosed (151/175, 86.3%) among 17 different syndromes studied. Of the 404 patients without a previous genetic diagnosis in the family, 62 (15.3%) were found to have mutations in disease-causing genes. Prophylactic surgery and follow-up (33.7%) or follow-up only (66.3%) was proposed for mutation carriers according to international guidelines and patients' preferences. We have a high mutation detection rate, genetic test acceptance, and compliance with risk reduction strategies. However, there is room for improvement, especially in genetic testing timing, considering that an increase in the indications for genetic testing is expected. © 2016 S. Karger AG, Basel.

  7. Descriptive analysis of endoscopic findings in patients with a family history of colorectal cancer.

    Science.gov (United States)

    Álvarez-Cuenllas, B; Díez-Rodríguez, R; Vaquero, L; Pisabarros, C; Aparicio, M; Rodríguez-Martín, L; Muñoz, F; Olcoz, J L; Jorquera, F; Vivas, S

    2015-01-01

    The presence of a family history implies an increased risk for developing colorectal cancer (CRC), and may require a different screening strategy. The aim of this study was to evaluate lesions found during colonoscopies of patients that had a family history of CRC. A retrospective study was conducted that included consecutive colonoscopies performed on patients with a family history of CRC at a referral center within the period from April 2000 to January 2012. The colonoscopic findings were analyzed in relation to sex, age, and the presence or absence of symptoms. Data from 3,792 colonoscopies were collected. The mean age of the patients was 53.14 years (SD 12.22), and 57.4% were women. Colonoscopy was normal in 71.7% of the cases, with hyperplastic polyps being detected in 7.1%, and adenomatous polyps in 19.8% (39.4% of them were high risk). There was a 1.5% presence of adenocarcinomas in the subjects. Polyps and CRC were predominant in men (P=.001 and P=.027, respectively) and there was a linear increase with age. Symptomatic patients had a higher CRC detection rate (Phistory of CRC, and the presence of symptoms was associated with a greater risk for presenting with CRC. Copyright © 2014 Asociación Mexicana de Gastroenterología. Published by Masson Doyma México S.A. All rights reserved.

  8. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

    Science.gov (United States)

    Stoffel, Elena M; Mangu, Pamela B; Gruber, Stephen B; Hamilton, Stanley R; Kalady, Matthew F; Lau, Michelle Wan Yee; Lu, Karen H; Roach, Nancy; Limburg, Paul J

    2015-01-10

    To provide recommendations on prevention, screening, genetics, treatment, and management for people at risk for hereditary colorectal cancer (CRC) syndromes. The American Society of Clinical Oncology (ASCO) has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations. The Familial Risk-Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline published in 2013 on behalf of the European Society for Medical Oncology (ESMO) Guidelines Working Group in Annals of Oncology was reviewed for developmental rigor by methodologists, with content and recommendations reviewed by an ASCO endorsement panel. The ASCO endorsement panel determined that the recommendations of the ESMO guidelines are clear, thorough, and based on the most relevant scientific evidence. The ASCO panel endorsed the ESMO guidelines and added a few qualifying statements. Approximately 5% to 6% of patient cases of CRC are associated with germline mutations that confer an inherited predisposition for cancer. The possibility of a hereditary cancer syndrome should be assessed for every patient at the time of CRC diagnosis. A diagnosis of Lynch syndrome, familial adenomatous polyposis, or another genetic syndrome can influence clinical management for patients with CRC and their family members. Screening for hereditary cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria. © 2014 by American Society of Clinical Oncology.

  9. Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guidelines

    Science.gov (United States)

    Stoffel, Elena M.; Mangu, Pamela B.; Gruber, Stephen B.; Hamilton, Stanley R.; Kalady, Matthew F.; Lau, Michelle Wan Yee; Lu, Karen H.; Roach, Nancy; Limburg, Paul J.

    2015-01-01

    Purpose To provide recommendations on prevention, screening, genetics, treatment, and management for people at risk for hereditary colorectal cancer (CRC) syndromes. The American Society of Clinical Oncology (ASCO) has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations. Methods The Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline published in 2013 on behalf of the European Society for Medical Oncology (ESMO) Guidelines Working Group in Annals of Oncology was reviewed for developmental rigor by methodologists, with content and recommendations reviewed by an ASCO endorsement panel. Results The ASCO endorsement panel determined that the recommendations of the ESMO guidelines are clear, thorough, and based on the most relevant scientific evidence. The ASCO panel endorsed the ESMO guidelines and added a few qualifying statements. Recommendations Approximately 5% to 6% of patient cases of CRC are associated with germline mutations that confer an inherited predisposition for cancer. The possibility of a hereditary cancer syndrome should be assessed for every patient at the time of CRC diagnosis. A diagnosis of Lynch syndrome, familial adenomatous polyposis, or another genetic syndrome can influence clinical management for patients with CRC and their family members. Screening for hereditary cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria. PMID:25452455

  10. Adenocarcinoma of the third portion of the duodenum in a man with CREST syndrome.

    Science.gov (United States)

    Anastasopoulos, Georgios; Marinis, Athanasios; Konstantinidis, Christos; Theodosopoulos, Theodosios; Fragulidis, Georgios; Vassiliou, Ioannis

    2008-10-01

    CREST (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasias) syndrome has been rarely associated with other malignancies (lung, esophagus). This is the first report of a primary adenocarcinoma of the third portion of the duodenum in a patient with CREST syndrome. A 54-year-old male patient with CREST syndrome presented with colicky postprandial pain of the upper abdomen, diminished food uptake and a 6-Kg-body weight loss during the previous 2 months. An ulcerative lesion in the third portion of the duodenum was revealed during duodenoscopy, with a diagnosis of adenocarcinoma on biopsy specimen histology. The patient underwent a partial pancreatoduodenectomy. No adjuvant therapy was instituted and follow-up is negative for local recurrence or metastases 21 months postoperatively. CREST syndrome has been associated with colon cancer, gastric polyps, familial adenomatous polyposis (FAP) syndrome and Crohn's disease; however, this is the first report of a primary adenocarcinoma of the duodenum in a patient with CREST syndrome. However, any etiologic relationship remains to be further investigated.

  11. Adenocarcinoma of the third portion of the duodenum in a man with CREST syndrome

    Directory of Open Access Journals (Sweden)

    Fragulidis Georgios

    2008-10-01

    Full Text Available Abstract Background CREST (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasias syndrome has been rarely associated with other malignancies (lung, esophagus.This is the first report of a primary adenocarcinoma of the third portion of the duodenum in a patient with CREST syndrome. Case presentation A 54-year-old male patient with CREST syndrome presented with colicky postprandial pain of the upper abdomen, diminished food uptake and a 6-Kg-body weight loss during the previous 2 months. An ulcerative lesion in the third portion of the duodenum was revealed during duodenoscopy, with a diagnosis of adenocarcinoma on biopsy specimen histology. The patient underwent a partial pancreatoduodenectomy. No adjuvant therapy was instituted and follow-up is negative for local recurrence or metastases 21 months postoperatively. Conclusion CREST syndrome has been associated with colon cancer, gastric polyps, familial adenomatous polyposis (FAP syndrome and Crohn's disease; however, this is the first report of a primary adenocarcinoma of the duodenum in a patient with CREST syndrome. However, any etiologic relationship remains to be further investigated.

  12. Clinical profile of patients with adult-onset eosinophilic asthma

    Directory of Open Access Journals (Sweden)

    Jantina C. de Groot

    2016-05-01

    Full Text Available Adult-onset eosinophilic asthma is increasingly recognised as a severe and difficult-to-treat subtype of asthma. In clinical practice, early recognition of patients with this asthma subtype is important because it may have treatment implications. Therefore, physicians need to know the distinct characteristics of this asthma phenotype. The objective of the present study was to determine the characteristic profile of patients with adult-onset eosinophilic asthma. 130 patients with adult-onset (>18 years of age asthma and high blood eosinophil counts (≥0.3×109 L−1 were compared with 361 adult-onset asthma patients with low (<0.3×109 L−1 blood eosinophils. Measurements included a series of clinical, functional and imaging parameters. Patients with high blood eosinophils were more often male, had less well controlled asthma and higher exacerbation rates, despite the use of higher doses of inhaled corticosteroids. They had higher levels of total IgE without more sensitisation to common inhaled allergens. In addition, these patients had worse lung function, and more often showed fixed airflow limitation, air trapping, nasal polyposis and abnormalities on sinus computed tomography scanning. Chronic rhinosinusitis, air trapping and male sex were three independent factors associated with blood eosinophilia (adjusted OR 3.8 (95% CI 1.7–8.1, 3.0 (95% CI 1.1–8.1 and 2.4 (95% CI 1.3–4.4, respectively. Patients with adult-onset asthma with elevated blood eosinophils exhibit a distinct profile, which can readily be recognised in clinical practice.

  13. Discrepant serum and urine β-hCG results due to production of β-hCG by a cribriform-morular variant of thyroid papillary carcinoma.

    Science.gov (United States)

    Alikhan, Mir; Koshy, Anoopa; Hyjek, Elizabeth; Stenson, Kerstin; Cohen, Ronald N; Yeo, Kiang-Teck J

    2015-01-01

    Although patients with medullary thyroid cancer are known to present with paraneoplastic hormone production, this is much less common with papillary thyroid cancer. We present a patient with the cribriform morular variant of papillary thyroid cancer in association with familial adenomatous polyposis who developed a positive pregnancy test in the absence of known pregnancy. The patient had developed vaginal bleeding, and her laboratory testing was characterized by elevated serum human chorionic gonadotropin (β-hCG) concentrations, but negative qualitative urine results. After a thorough gynecological evaluation to exclude unexpected normal, ectopic, or molar pregnancy, we pursued an evaluation for other sources of β-hCG production. We showed that the elevated serum β-hCG concentrations were not the result of heterophile antibody interferences, and ultimately we proved that her recurrent tumor produced the ectopic β-hCG. This is the first report of β-hCG production by papillary thyroid cancer. Thus, the possibility of ectopic production of β-hCG by papillary thyroid cancer needs to be included in the differential diagnosis of elevated hCG concentration in the absence of pregnancy. This study of an unusual paraneoplastic syndrome highlights the importance of investigating discrepancies in the clinical laboratory. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. Drug therapy for hereditary cancers

    Directory of Open Access Journals (Sweden)

    Imyanitov Evgeny N

    2011-08-01

    Full Text Available Abstract Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose polymerase (PARP. Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC. Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC patients; studies involving non-selected (i.e., both sporadic and hereditary CRC with high-level microsatellite instability (MSI-H suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP. Hereditary medullary thyroid cancers (MTC have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.

  15. Effect of total enterectomy, pancreatectomy, and portal vein ligation on liver function and histology: a case report.

    Science.gov (United States)

    Vivarelli, M; Lauro, A; Cucchetti, A; D'Errico, A; Pironi, L; Pinna, A D

    2007-01-01

    Impaired hepatic function and histology have been observed in experimental models of diversion of the portal vein blood inflow from the liver and among patients with intestinal failure. Survival after total enterectomy, pancreatectomy, and portal vein ligation, and the effect of such a condition on liver function have never been reported in humans. Herein a 32-year-old woman with familial adenomatous polyposis and multiple desmoid tumors involving the mesentery and the retroperitoneum underwent total enterectomy and pancreatectomy followed by en bloc transplantation of the stomach, small bowel, and pancreas. Due to early graft failure, the patient underwent graftectomy, ligation of the portal vein, and external drainage of the common bile duct. Liver function tests were checked daily and a liver biopsy performed 15 days after graftectomy. The patient died of a ruptured mycotic aneurysm of the abdominal aorta at 27 days after the graftectomy. Liver function tests remained normal throughout the postoperative period; liver biopsy showed normal hepatic architecture with mild portal inflammation and cholestasis and spotty necrosis. Total enterectomy with pancreatectomy and ligation of the portal vein are compatible with survival in humans (at least in the short term), allowing normal hepatic function with minimal histological alterations to the liver.

  16. [Regional growth preferences in hereditary, synchronous, and metachronous colorectal carcinomas. Basics of tumor surgery Part II].

    Science.gov (United States)

    Stelzner, F

    2006-11-01

    This article discusses the therapeutic importance of the loss of self-regulation of cell division in polypoid adenomas and in the cloacogenic, cancerophilic rectal segment. Regional growth preferences can observed in familial adenomatous polyposis (FAP) and ulcerative colitis, as in other diseases featuring a cancerous disposition on the mucosa. For example, rectal carcinomas are more common than colon carcinomas if one considers the total mucosal surface area at risk. Malignant changes do not occur randomly in existing adenomas of FAP patients, and the adenomas' cell division--as in other adenomas--is governed by some degree of self-regulation. In FAP patients undergoing proctocolectomy, preferred new growth areas for carcinomas include the duodenum and ileum. In patients with synchronous colorectal cancers, the rectum is more commonly affected than other colon segments. If the rectum is resected, metachronous carcinomas are exceedingly rare in the remaining colon segments. Clinical decisions about rectal resection must be informed by understanding of the importance of this organ for anorectal continence as well as the described growth of colorectal malignancies.

  17. Deletion Mutations in an Australian Series of HNPCC Patients

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    McPhillips Mary

    2005-11-01

    Full Text Available Abstract Hereditary non polyposis colorectal cancer (HNPCC is characterized by the presence of early onset colorectal cancer and other epithelial malignancies. The genetic basis of HNPCC is a deficiency in DNA mismatch repair, which manifests itself as DNA microsatellite instability in tumours. There are four genes involved in DNA mismatch repair that have been linked to HNPCC; these include hMSH2, hMLH1, hMSH6 and hPMS2. Of these four genes hMLH1 and hMSH2 account for the majority of families diagnosed with the disease. Notwithstanding, up to 40 percent of families do not appear to harbour a change in either hMSH2 or hMLH1 that can be detected using standard screening procedures such as direct DNA sequencing or a variety of methods all based on a heteroduplex analysis. In this report we have screened a series of 118 probands that all have the clinical diagnosis of HNPCC for medium to large deletions by the Multiplex Ligation-Dependent Probe Amplification assay (MLPA to determine the frequency of this type of mutation. The results indicate that a significant proportion of Australian HNPCC patients harbour deletion or duplication mutations primarily in hMSH2 but also in hMLH1.

  18. Management of the patient with eosinophilic asthma: a new era begins

    Directory of Open Access Journals (Sweden)

    Jantina C. de Groot

    2015-09-01

    Full Text Available Now that it is generally accepted that asthma is a heterogeneous condition, phenotyping of asthma patients has become a mandatory part of the diagnostic workup of all patients who do not respond satisfactorily to standard therapy with inhaled corticosteroids. Late-onset eosinophilic asthma is currently one of the most well-defined asthma phenotypes and seems to have a different underlying pathobiology to classical childhood-onset, allergic asthma. Patients with this phenotype can be identified in the clinic by typical symptoms (few allergies and dyspnoea on exertion, typical lung function abnormalities (“fixed” airflow obstruction, reduced forced vital capacity and increased residual volume, typical comorbidities (nasal polyposis and a good response to systemic corticosteroids. The definitive diagnosis is based on evidence of eosinophilia in bronchial biopsies or induced sputum, which can be estimated with reasonable accuracy by eosinophilia in peripheral blood. Until recently, patients with eosinophilic asthma had a very poor quality of life and many suffered from frequent severe exacerbations or were dependent on oral corticosteroids. Now, for the first time, novel biologicals targeting the eosinophil have become available that have been shown to be able to provide full control of this type of refractory asthma, and to become a safe and efficacious substitute for oral corticosteroids.

  19. [Extraenteric infection caused by Blastocystis spp. in a female patient with liver abscess].

    Science.gov (United States)

    Prodeus, T V; Zelia, O P; Khlebnikova, T A; Pikul', D A

    2014-01-01

    The cases associated with the development of liver abscesses in a 64-year-old female patient after elective surgery for colon polyposis could form an opinion that extraenteric infection caused by Blastocystis spp. might develop in the immunocompromised host. The development of Blastocystis spp. in the presence of disintegrated liver tissue and inflammatory cells was verified by microscopic examination of liver abscess aspirates. The Romanovsky-Giemsa stained specimens exhibited typical amoeboid, vacuolar and, what is particularly important, dividing forms of Blastocystis spp. The patients full recovery after timely combination therapy with broad-spectrum antibiotics and imidazole group preparations also indirectly argues for the etiological role of Blastocystis spp. in the development of liver abscess with the signs of changes in both lungs (the signs of right lung compression and bilateral hydrothorax). Physicians' awareness of the potential clinical significance of Blastocystis spp. in immunodeficient patients is sure to expand the range of differential diagnostic studies of patients infected with Blastocystis spp.. particularly in case of gastrointestinal tract diseases of unknown etiology.

  20. Cluster analysis and characterization of response to mepolizumab. A step closer to personalized medicine for patients with severe asthma.

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    Ortega, Hector; Li, Hao; Suruki, Robert; Albers, Frank; Gordon, David; Yancey, Steven

    2014-09-01

    Detailed characterization of asthma phenotypes is essential for identification of responder populations to allow directed personalized medical intervention. The aim of this study was to identify distinctive patient characteristics within subgroups of a well-characterized severe asthma population at risk for exacerbations and to determine the treatment response within each subgroup. A supervised cluster analysis with recursive partitioning approach was applied to data from the Dose Ranging Efficacy And safety with Mepolizumab (DREAM) study to identify characteristics that maximized the differences across subgroups. Exacerbation rate ratios were calculated for each cluster comparing mepolizumab versus placebo. Three predictors were identified in four primary clusters: blood eosinophils, airway reversibility, and body mass index. The reduction in exacerbations was significantly greater in patients who received mepolizumab (clusters 2, 3, and 4) with raised eosinophils (responder population). Cluster 2 with low airway reversibility (mean, 11%) had a 53% reduction in exacerbations. These patients more frequently reported sinusitis and nasal polyposis. Those with higher airway reversibility (mean, 28%) were further split by body mass index. The nonobese versus obese (clusters 3 and 4) had a 35 and 67% reduction in exacerbations, respectively. Cluster 4 also had patients with more comorbidities, including hypertension, weight gain, and anxiety. Using supervised cluster analysis helped identify specific patient characteristics related to disease and therapeutic response. Patients with eosinophilic inflammation received significant therapeutic benefit with mepolizumab, and responses differed within clusters. Clinical trial registered with www.clinicaltrials.gov (NCT01000506).

  1. Experience in clinical diagnosis and treatment of patients aged>65 years with acute calculous cholecystitis

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    GUO Xin

    2016-06-01

    Full Text Available ObjectiveTo investigate the features and methods of clinical diagnosis and treatment of elderly patients with acute calculous cholecystitis. MethodsA retrospective analysis was performed for the clinical data of elderly patients who were diagnosed with acute calculous cholecystitis in 451 Hospital of PLA from June 2012 to June 2015. After admission, all patients received fasting treatment, electrocardiographic monitoring, anti-infective therapy, and maintenance of body fluid balance and stable blood pressure and glucose. According to patients condition choose laparoscopic cholecystectomy open cholecystectomy, open cholecystectomy and common bile duct exploration. ResultsA total of 129 patients were enrolled; among these patients, 119 had acute calculous cholecystitis, 2 had gallstones with adenomatous hyperplasia of the gallbladder mucosa, 6 had pyogenic cholecystitis, and 2 had gallbladder gangrene. Among the patients enrolled, 52 were complicated by at least one internal disease. Among them, 67 underwent emergency surgery since there were no significant improvements in symptoms, and 62 showed relief of symptoms and underwent surgical treatment at other times. Of all patients, 108 underwent laparoscopic cholecystectomy, 9 underwent laparoscopy and were converted to open cholecystectomy, and 9 underwent open cholecystectomy and common bile duct exploration. All the surgeries were successful and all the patients were cured and discharged. There were no deaths. ConclusionElderly patients with acute calculous cholecystitis are in a critical condition and often complicated by various internal diseases. Laparoscopic cholecystectomy is the most commonly used therapeutic method. Clinicians should be fully prepared before surgery, take the perioperative management seriously, and accurately judge the surgical indications and timing.

  2. Cystadenocarcinoma of the appendix: an incidental imaging finding in a patient with adenocarcinomas of the ascending and the sigmoid colon

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    Prassopoulos Panos

    2003-10-01

    Full Text Available Abstract Background Primary adenocarcinomas of the appendix are uncommon. Mucoceles that result from mucinous adenocarcinomas of the appendix may be incidentally detected on imaging. Case presentation A case of a mucocele of the appendix, due to cystadenocarcinoma, is presented as an incidental imaging finding in a female, 86-year-old patient. The patient was admitted due to rectal hemorrhage and underwent colonoscopy, x-ray, US and CT. Adenocarcinoma of the ascending colon, adenomatous polyp of the sigmoid colon and a cystic lesion in the right iliac fossa were diagnosed. The cystic lesion was characterized as mucocele. The patient underwent right hemicolectomy, excision of the mucocele and sigmoidectomy. She recovered well and in two-year follow-up is free from cancer. Conclusions Preoperative diagnosis of an underlying malignancy in a mucocele is important for patient management, but it is difficult on imaging studies. Small lymph nodes or soft tissue stranding in the surrounding fat on computed tomography examination may suggest the possibility of malignancy.

  3. Syndromes with supernumerary teeth.

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    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  4. Common genetic variants in Wnt signaling pathway genes as potential prognostic biomarkers for colorectal cancer.

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    Wen-Chien Ting

    Full Text Available Compelling evidence has implicated the Wnt signaling pathway in the pathogenesis of colorectal cancer. We assessed the use of tag single nucleotide polymorphisms (tSNPs in adenomatous polyposis coli (APC/β-catenin (CTNNB1 genes to predict outcomes in patients with colorectal cancer. We selected and genotyped 10 tSNP to predict common variants across entire APC and CTNNB1 genes in 282 colorectal cancer patients. The associations of these tSNPs with distant metastasis-free survival and overall survival were evaluated by Kaplan-Meier analysis, Cox regression model, and survival tree analysis. The 5-year overall survival rate was 68.3%. Survival tree analysis identified a higher-order genetic interaction profile consisting of the APC rs565453, CTNNB1 2293303, and APC rs1816769 that was significantly associated with overall survival. The 5-year survival overall rates were 89.2%, 66.1%, and 58.8% for the low-, medium-, and high-risk genetic profiles, respectively (log-rank P = 0.001. After adjusting for possible confounders, including age, gender, carcinoembryonic antigen levels, tumor differentiation, stage, lymphovascular invasion, perineural invasion, and lymph node involvement, the genetic interaction profile remained significant. None of the studied SNPs were individually associated with distant metastasis-free survival and overall survival. Our results suggest that the genetic interaction profile among Wnt pathway SNPs might potentially increase the prognostic value in outcome prediction for colorectal cancer.

  5. A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.

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    Gonçalves, Vânia; Theisen, Patrícia; Antunes, Ofélia; Medeira, Ana; Ramos, José Silva; Jordan, Peter; Isidro, Glória

    2009-03-09

    A missense mutation at codon 640 in the APC gene was identified in a familial adenomatous polyposis (FAP) patient, however, its pathological consequence remained unclear. Here we found that this missense mutation interferes at the nucleotide level with an exonic splicing regulatory element and leads to aberrant splicing of the mutant APC transcript rather than exerting its effect through the observed amino acid change. Analysis of the patient RNA revealed complete skipping of exon 14 in transcripts from the mutant APC allele, leading to a frameshift and a premature stop codon. When cloned into a splicing reporter minigene and transfected into colorectal cell lines, the exon 14 point mutation c.1918C>G (pR640G) was found sufficient to cause the observed exon skipping. Bioinformatic analysis predicted the mutation to change SRp55, hnRNP A1 or ASF/SF2 splicing factor binding sites. Using RNA interference methodology these predictions were experimentally validated and revealed that only ASF/SF2 was required for exon 14 inclusion. These research data identify APC mutation c.1918C>G (pR640G) as pathogenic and indicate a mechanism involving disruption of an ASF/SF2 exonic splicing enhancer element. The results allow genetic diagnosis of a hereditary tumour predisposition but also illustrate the need to complement in silico prediction by splicing reporter assays.

  6. Tumor desmóide tratado com tamoxifeno: relato de caso

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    Bruno Juste Werneck Côrtes

    2006-03-01

    Full Text Available O tumor desmóide (TD é uma neoplasia benigna, que se origina de estruturas fasciais ou músculo-aponeuróticas, constituída por proliferação fibroblástica. Ocorre em 4 a 13% dos pacientes com polipose adenomatosa familiar (FAP. Apesar de histologicamente benignos, os TD têm comportamento maligno, sendo localmente invasivos e com elevada recorrência após ressecção. Os autores relatam um caso de tumor desmóide tratado cirurgicamente no Hospital Governador Israel Pinheiro - IPSEMG e fazem revisão da literatura sobre o tratamento.The desmoid tumors are benign tumors arising from fibroaponeurotic tissue. They occur in 4 to 13% patients who present familial adenomatous polyposis. Although a benign disease, desmoid tumors are focally invasive. They do not metastasize but can be lethal because of aggressive growth with pressure and erosion causing small bowel obstruction. Their tendency to recur (65% to 85% after removal has encouraged a conservative approach to management. The authors report the case of a patient who presented intra-abdominal desmoid tumor, treated surgically in the Hospital Governador Israel Pinheiro - Belo Horizonte (MG and discuss the therapeutic options in the literature.

  7. Malignant peripheral nerve sheath tumours in inherited disease

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    Evans D

    2012-10-01

    Full Text Available Abstract Background Malignant peripheral nerve sheath tumours (MPNST are rare tumours known to occur at high frequency in neurofibromatosis 1 (NF1, but may also occur in other cancer prone syndromes. Methods The North West Regional Genetic Register covers a population of 4.1 million and was interrogated for incidence of MPNST in 12 cancer prone syndromes. Age, incidence and survival curves were generated for NF1. Results Fifty two of 1254 NF1 patients developed MPNST, with MPNST also occurring in 2/181 cases of schwannomatosis and 2/895 NF2 patients. Three cases were also noted in TP53 mutation carriers. However, there were no cases amongst 5727BRCA1/2 carriers and first degree relatives, 2029 members from Lynch syndrome families, nor amongst 447 Familial Adenomatous Polyposis, 202 Gorlin syndrome, nor 87 vHL cases. Conclusion MPNST is associated with schwannomatosis and TP53 mutations and is confirmed at high frequency in NF1. It appears to be only increased in NF2 amongst those that have been irradiated. The lifetime risk of MPNST in NF1 is between 9–13%.

  8. Microscopic colitis: a descriptive clinical cohort study of 795 patients with collagenous and lymphocytic colitis.

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    Mellander, Marie-Rose; Ekbom, Anders; Hultcrantz, Rolf; Löfberg, Robert; Öst, Åke; Björk, Jan

    2016-01-01

    Microscopic colitis is a common cause of chronic diarrhoea in the Scandinavian countries. This report comprises demographic data, clinical and endoscopic features, and occurrence of coeliac and inflammatory bowel disease (IBD) in a large urban cohort of patients with lymphocytic colitis (LC) and collagenous colitis (CC). A total of 795 patients with microscopic colitis from two hospitals in Stockholm were included. Medical records were reviewed and clinical data, including endoscopic and histological findings, were compiled. Forty-three percent had CC (female:male ratio 3.7:1) and 57% had LC (female:male ratio 2.7:1). The mean age at diagnosis of CC was 63 years and of LC was 59 years (p = 0.005). Clinical features were similar in both entities, but the intensity of symptoms differed. Watery diarrhoea was reported in 55% in CC patients versus in 43% in LC patients (p = 0.0014), and nocturnal diarrhoea in 28% versus 18% (p = 0.002). Subtle endoscopic mucosal findings were reported in 37% of the CC patients and in 25% of the LC patients (p = 0.0011). Colorectal adenomatous polyps were found in 5.3% of all patients. Coeliac disease occurred in 6% and IBD occurred in 2.1% of all patients. Clinical features of LC and CC are similar but not identical. CC seems to be a more severe type of bowel inflammation and LC tends to occur earlier in life. Both forms might indeed feature endoscopic findings despite the designation 'microscopic'. Our study confirms the strong association with coeliac disease.

  9. Evaluation of house dust mite allergy in real life: patients' characteristics and satisfaction with treatment.

    Science.gov (United States)

    Frati, F; Scurati, S; Dell'Albani, I; Puccinelli, P; Incorvaia, C; Passalacqua, G

    2014-01-01

    HDMs are a ubiquitous allergen source, with a very well defined biology, but their role in clinical settings and in everyday clinical practice is not well characterized. Aim of this cross-sectional, questionnaire-based study was to assess the clinical characteristics of HDM-related respiratory allergy in a large population of Italian patients. A structured questionnaire was sent to allergists randomly chosen among those of the Italian Federation of Immunology, Allergy and Clinical Immunology (IFIACI). They were asked to fill it with the clinical data of 10-12 consecutive patients referred for respiratory allergy, positive to HDM skin prick test. The questionnaire assessed type and severity of allergy, demographics, yearly distribution of symptoms, treatment, and satisfaction with the therapy. 45 allergists collected data from 499 patients. Within the evaluated population, 42% had rhinitis only, 45% asthma + rhinitis and 13% asthma alone. Rhinitis was moderate/severe in 51% of patients. Asthma was intermittent in 36% of patients, mild in 37% and moderate in 27%. Conjunctivitis was the most frequent comorbidity (36%), followed by rhinosinusitis (16%), adenoid hypertrophy (6%) and polyposis (5%). Out of the population, 56.2% of patients were not at all or partially not satisfied of their treatment for rhinitis, whereas the percentage of dissatisfied patients was about 53% for asthma therapy. 34% patients (n = 170) were monosensitized to HDM. It is confirmed that patients have more symptoms during the fall-winter periods. Patients with HDM allergy have frequently moderate-severe rhinitis, and about 50% of them are not satisfied with their treatment.

  10. Fecal blood loss in patients with colonic polyps: a comparison of measurements with 51chromium-labeled erythrocytes and with the Haemoccult test

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    Herzog, P.; Holtermueller, K.H.; Preiss, J.; Fischer, J.; Ewe, K.; Schreiber, H.J.; Berres, M.

    1982-11-01

    The quantitative determinations of fecal daily blood loss after intravenous administration of /sup 51/Cr-labeled erythrocytes in 44 patients with colonic polyps and in 11 controls were compared with the results of the daily performed Haemoccult test without dietary restrictions. A total of 642 stool specimens was analyzed for /sup 51/Cr loss and the Haemoccult test. The mean fecal daily blood loss in the 34 patients with adenomatous polyps of the descending colon and rectosigmoid was 1.36 +/- 0.14 ml/day (mean +/- SEM), in the 10 patients with polyps of the ascending and transverse colon it was 1.28 +/- 0.31 ml/day, and in the 11 controls 0.62 +/- 0.07 ml/day. There was no positive Haemoccult test in the controls. In fecal specimens from patients with polyps in the descending colon and rectosigmoid containing 2.0-3.99 ml blood/day, the Haemoccult-test was positive in 86%. Fecal specimens from patients with polyps in the ascending colon and transverse colon containing equal blood loss yielded a positive Haemoccult test result in 26%. Thus, the positivity of the Haemoccult test is determined by the fecal daily blood loss and the anatomic location of colonic bleeding sites.

  11. Aberrant Wnt/β-Catenin Signaling in Pancreatic Adenocarcinoma

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    Gang Zeng

    2006-04-01

    Full Text Available Wnt/β-catenin signaling plays an important role in normal development. However, its aberrant activation is associated with several cancers. The aim of this study is to examine the Wnt/β-catenin pathway in patients with advanced pancreatic adenocarcinoma (n = 31. Paraffin sections from tumors (n = 16 and normal pancreata (n = 3 were used to determine the localization of β-catenin. An additional 15 frozen tumors, adjacent normal pancreata (n = 5, or normal pancreata (n = 4 were utilized for protein isolation. Tumors were also examined for mutations in exon 3 of the CTNNB1 gene. More than 65% of the tumors showed an increase in total β-catenin, consistent with its enhanced membranous, cytoplasmic, and nuclear localization, but only two showed mutations in CTNNB1. The majority of the remaining tumors demonstrated concurrent increases in Wnt-1 and frizzled-2 (positive regulators and a decrease in Ser45/Thr41-phospho-β-catenin. Electrophoretic mobility shift assay demonstrated β-cateninT-cell factor binding in tumors only. Adenomatous polyposis coli and axin, which are both negative regulators, remained unchanged. Unexpectedly, total glycogen synthase kinase-3β protein was elevated in these tumors. Elevated levels of E-cadherin were also observed, although E-cadherin-β-catenin association in tumors remained unaffected. Thus, Wnt/β-catenin activation was observed in 65% of pancreatic adenocarcinomas, independently of β-catenin gene mutations in most tumors.

  12. Delayed dynamic abdominal wall closure following multi-visceral transplantation.

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    Iype, Satheesh; Butler, Andrew; Jamieson, Neville; Middleton, Stephen; Jah, Asif

    2014-01-01

    Primary closure of the abdominal wall following intestinal transplantation or multivisceral transplantation could become a challenging problem in a significant number of patients. A 38-year-old woman with familial adenomatous polyposis (FAP) underwent a multi-visceral transplantation for short gut syndrome. She subsequently developed acute graft rejection that proved resistant to conventional treatment. She was relisted and underwent re-transplantation along with kidney transplantation. Abdominal wall closure could not be achieved because of the large size of the graft and bowel oedema. The wound was initially managed with laparostomy followed by insertion of the delayed dynamic abdominal closure (DDAC) device (Abdominal Retraction Anchor - ABRA(®) system). Continuous dynamic traction to the wound edges resulted in gradual approximation and complete closure of the abdominal wound was achieved within 3 weeks. Successful abdominal closure after multivisceral transplantation or isolated intestinal transplantation often requires biological mesh, vascularised flaps or abdominal wall transplantation. DDAC eliminated the need for a prosthetic mesh or skin graft and provided an excellent cosmetic result. Adjustment of the dynamic traction at the bedside minimised the need for multiple returns to the operating theatre. It resulted in a well-healed linear scar without a hernia. Dynamic traction allows delayed closure of laparotomy resulting in strong and cosmetically sound wound healing with native tissue. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  13. Colorectal polyps in childhood.

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    Thakkar, Kalpesh; Fishman, Douglas S; Gilger, Mark A

    2012-10-01

    Colorectal polyps are a common cause of gastrointestinal bleeding in children. This review updates the information on colorectal polyps and summarizes the recent advances in genetics, diagnosis, and treatment of polyps in the large intestine. A review of recent literature regarding colorectal polyps demonstrates an estimated detected prevalence of 6.1% overall and 12.0% among those with lower gastrointestinal bleeding during pediatric colonoscopy. Non-Caucasian races (e.g., black and Hispanic) are at higher risk for colorectal polyps in childhood. Recent data show juvenile polyps may recur in approximately 45% of children with multiple polyps and 17% of children with solitary polyps. A clinical trial showed that celecoxib, a cyclooxygenase (COX)-2 inhibitor, significantly reduced the number of colorectal polyps in children with familial adenomatous polyposis (FAP). Ethical challenges related to genetic tests for FAP have been newly examined. The utility of novel endoscopic techniques (e.g., enteroscopy) in Peutz-Jeghers Syndrome to prevent intussusception have been newly described. Although colorectal polyps in children are generally benign and easily removed, careful clinical evaluation and ongoing research are needed to identify the small proportion of children at risk for cancer. The current paradigm of using the polyp number at presentation as a primary determinant of subsequent surveillance may be inadequate for many patients.

  14. Novel Implications in Molecular Diagnosis of Lynch Syndrome

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    Raffaella Liccardo

    2017-01-01

    Full Text Available About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP and Lynch syndrome (LS. In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives.

  15. From Capsule Endoscopy to Balloon-Assisted Deep Enteroscopy: Exploring Small-Bowel Endoscopic Imaging

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    Cooley, D. Matthew; Walker, Andrew J.

    2015-01-01

    In the past 15 years, the use of endoscopic evaluations in patients with obscure gastrointestinal bleeding has become more common. Indications for further endoscopic interventions include iron deficiency anemia, suspicion of Crohn’s disease or small-bowel tumors, assessment of celiac disease or of ulcers induced by nonsteroidal anti-inflammatory drugs, and screening for familial adenomatous polyposis. Often, capsule endoscopy is performed in concert with other endoscopic studies and can guide decisions regarding whether enteroscopy should be carried out in an anterograde or a retrograde approach. Retrograde endoscopy is beneficial in dealing with disease of the more distal small bowel. Multiple studies have examined the diagnostic yield of balloon-assisted deep enteroscopy and have estimated a diagnostic yield of 40% to 80%. Some of the studies have found that diagnostic yields are higher when capsule endoscopy is performed before balloon-assisted deep enteroscopy in a search for small-bowel bleeds. Each of these procedures has a role when performed alone; however, research suggests that they are especially effective as complementary techniques and together can provide better-directed therapy. Both procedures are relatively safe, with high diagnostic and therapeutic yields that allow evaluation of the small bowel. Because both interventions are relatively new to the world of gastroenterology, much research remains to be done regarding their overall efficacy, cost, and safety, as well as further indications for their use in the detection and treatment of diseases of the small bowel. PMID:27099585

  16. Jagged1 is the pathological link between Wnt and Notch pathways in colorectal cancer.

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    Rodilla, Verónica; Villanueva, Alberto; Obrador-Hevia, Antonia; Robert-Moreno, Alex; Fernández-Majada, Vanessa; Grilli, Andrea; López-Bigas, Nuria; Bellora, Nicolás; Albà, M Mar; Torres, Ferran; Duñach, Mireia; Sanjuan, Xavier; Gonzalez, Sara; Gridley, Thomas; Capella, Gabriel; Bigas, Anna; Espinosa, Lluís

    2009-04-14

    Notch has been linked to beta-catenin-dependent tumorigenesis; however, the mechanisms leading to Notch activation and the contribution of the Notch pathway to colorectal cancer is not yet understood. By microarray analysis, we have identified a group of genes downstream of Wnt/beta-catenin (down-regulated when blocking Wnt/beta-catenin) that are directly regulated by Notch (repressed by gamma-secretase inhibitors and up-regulated by active Notch1 in the absence of beta-catenin signaling). We demonstrate that Notch is downstream of Wnt in colorectal cancer cells through beta-catenin-mediated transcriptional activation of the Notch-ligand Jagged1. Consistently, expression of activated Notch1 partially reverts the effects of blocking Wnt/beta-catenin pathway in tumors implanted s.c. in nude mice. Crossing APC(Min/+) with Jagged1(+/Delta) mice is sufficient to significantly reduce the size of the polyps arising in the APC mutant background indicating that Notch is an essential modulator of tumorigenesis induced by nuclear beta-catenin. We show that this mechanism is operating in human tumors from Familial Adenomatous Polyposis patients. We conclude that Notch activation, accomplished by beta-catenin-mediated up-regulation of Jagged1, is required for tumorigenesis in the intestine. The Notch-specific genetic signature is sufficient to block differentiation and promote vasculogenesis in tumors whereas proliferation depends on both pathways.

  17. Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context

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    Paulette Bioulac-Sage

    2013-01-01

    Full Text Available In Europe and North America, hepatocellular adenomas (HCA occur, classically, in middle-aged woman taking oral contraceptives. Twenty percent of women, however, are not exposed to oral contraceptives; HCA can more rarely occur in men, children, and women over 65 years. HCA have been observed in many pathological conditions such as glycogenosis, familial adenomatous polyposis, MODY3, after male hormone administration, and in vascular diseases. Obesity is frequent particularly in inflammatory HCA. The background liver is often normal, but steatosis is a frequent finding particularly in inflammatory HCA. The diagnosis of HCA is more difficult when the background liver is fibrotic, notably in vascular diseases. HCA can be solitary, or multiple or in great number (adenomatosis. When nodules are multiple, they are usually of the same subtype. HNF1α-inactivated HCA occur almost exclusively in woman. The most important point of the classification is the identification of β-catenin mutated HCA, a strong argument to identify patients at risk of malignant transformation. Some HCA already present criteria indicating malignant transformation. When the whole nodule is a hepatocellular carcinoma, it is extremely difficult to prove that it is the consequence of a former HCA. It is occasionally difficult to identify HCA remodeled by necrosis or hemorrhage.

  18. Familial pancreatic cancer and hereditary syndromes: screening strategy for high-risk individuals.

    Science.gov (United States)

    Matsubayashi, Hiroyuki

    2011-11-01

    Globally, and almost evenly across nations, a familial disposition can be found in 4-10% of patients with pancreatic cancer (PC). A family history of PC is a risk for this disease and the risk level changes in correlation with the number of affected relatives. Several hereditary syndromes with potential germline mutation also have a high risk for PC; however, little is yet known regarding the genes responsible for familial pancreatic cancer (FPC). Characteristics of FPC cases are similar to those of other familial tumors, including younger onset than in sporadic cases and an ethnic difference (Ashkenazi Jewish > other Caucasian). Other risks resemble those of sporadic cases and include smoking and diabetes mellitus. People with several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, breast-ovarian cancer syndrome, hereditary nonpolyposis colorectal cancer, and familial adenomatous polyposis also have an increased risk of PC. In many countries, but not yet in Japan, screening of these high-risk individuals is now ongoing for the detection of early PC under established familial pancreatic cancer registries. In addition to the ordinary risk factors, such as smoking, diabetes, pancreatitis, cysts, duct ectasia, and intraductal papillary mucinous neoplasm (IPMN), individuals with a family history of PC and hereditary syndromes are expected to be entered into the screening protocol.

  19. Postoperative care for Samter's triad patients undergoing endoscopic sinus surgery: a double-blinded, randomized controlled trial.

    Science.gov (United States)

    Rotenberg, Brian W; Zhang, Irene; Arra, Ian; Payton, Keith B

    2011-12-01

    Evidence is lacking to guide the postoperative management of Samter's triad patients with chronic rhinosinusitis with polyposis (CRSwP) undergoing endoscopic sinus surgery (ESS). The purpose of this study was to compare three different standardized medication regimens prescribed to these patients after ESS. Three-arm, randomized, double-blinded, controlled trial. Patients with Samter's triad undergoing ESS were postoperatively randomized into three medication regimens, those being saline irrigation alone (control group A), saline irrigation plus separate budesonide nasal spray (group B), and saline irrigation mixed with budesonide nasal spray (group C). Outcome measures were Sino-Nasal Outcome Test scores, Lund-Mackay computed tomography scores, and Lund-Kennedy endoscopic scores taken at preoperative baseline, and then at 6 months and 1 year postoperatively. Side effect profiles were also measured (adrenocorticotropic hormone blood level ranges and intraocular pressure at the same interval points). Analysis of variance and χ(2) analyses were conducted using a Bonferroni correction method and routine descriptive statistics. Inter- and intragroup comparisons were made. Sixty subjects were recruited. All groups were equivalent at baseline in all outcomes. All intragroup analyses showed statistically and clinically significant improvement in disease status as compared to baseline (P .05). There was no treatment effect noted. In this study, nasal steroids did not confer any additional benefit over saline alone as post-ESS care for the Samter's triad CRSwP patient population. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.

  20. No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

    Science.gov (United States)

    Steinke, Verena; Rahner, Nils; Morak, Monika; Keller, Gisela; Schackert, Hans K; Görgens, Heike; Schmiegel, Wolff; Royer-Pokora, Brigitte; Dietmaier, Wolfgang; Kloor, Matthias; Engel, Christoph; Propping, Peter; Aretz, Stefan

    2008-05-01

    Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant tumour predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. In contrast to MLH1 and MSH2, germline mutations in MSH6 are associated with a milder and particularly variable phenotype. Based on the reported interaction of the MMR complex and the base excision repair protein MUTYH, it was hypothesised that MUTYH mutations serve as phenotypical modifiers in HNPCC families. Recently, a significantly higher frequency of heterozygosity for MUTYH mutations among MSH6 mutation carriers was reported. We examined 64 MSH6 mutation carriers (42 truncating mutations, 19 missense mutations and 3 silent mutations) of the German HNPCC Consortium for MUTYH mutations by sequencing the whole coding region of the gene. Monoallelic MUTYH mutations were identified in 2 of the 64 patients (3.1%), no biallelic MUTYH mutation carrier was found. The frequency of MUTYH mutations was not significantly higher than that in healthy controls, neither in the whole patient group (P=0.30) nor in different subgroups regarding mutation type. Our results do not support the association between MSH6 mutations and heterozygosity for MUTYH mutations.

  1. Investigation of sinonasal anatomy via low-dose multidetector CT examination in chronic rhinosinusitis patients with higher risk for perioperative complications.

    Science.gov (United States)

    Fraczek, Marcin; Guzinski, Maciej; Morawska-Kochman, Monika; Krecicki, Tomasz

    2017-02-01

    The aim of the study was to compare visualisation of the surgically relevant anatomical structures via low- and standard-dose multidetector CT protocol in patients with chronic rhinosinusitis (CRS) and higher risk for perioperative complications (i.e. presence of bronchial asthma, history of sinus surgery and advanced nasal polyposis). 135 adult CRS patients were divided randomly into standard-dose (120 kVp, 100 mAs) or low-dose CT groups (120 kVp, 45 mAs). The detectability of the vital anatomical structures (anterior ethmoid artery, optic nerve, cribriform plate and lamina papyracea) was scored using a five-point scale (from excellent to unacceptable) by a radiologist and sinus surgeon. Polyp sizes were quantified endoscopically according to the Lildholdt's scale (LS). Olfactory function was tested with the "Sniffin' Sticks" test. On the low-dose CT images, detectability ranged from 2.42 (better than poor) for cribriform plate among anosmic cases to 4.11 (better than good) for lamina papyracea in cases without nasal polyps. Identification of lamina papyracea on low-dose scans was significantly worse in each group and the same was the case with cribriform plates in patients with advanced polyposis and anosmia. Cribriform plates were the most poorly identified (between poor and average) among all the structures on low-dose images. Identification of anterior ethmoid artery (AEA) with reduced dose was insignificantly worse than with standard-dose examination. The AEA was scored as an average-defined structure and was the second weakest visualised. In conclusion, preoperatively, low-dose protocols may not sufficiently visualise the surgically relevant anatomical structures in patients with CRS and bronchial asthma, advanced nasal polyps (LS > 2) and history of sinus surgery. Low mAs value enables comparable detectability of sinonasal landmarks with standard-dose protocols in patients without analysed risk factors. In the context of planned surgery, the current

  2. Cellular proliferation and angiogenesis in nasal polyps of young adult and geriatric patients.

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    Shin, Jae Min; Byun, Jang Yul; Baek, Byoung Joon; Lee, Jae Yong

    2015-06-01

    Cellular proliferation and angiogenesis are associated with pathophysiology of nasal polyposis (NP). In a previous report, we showed that patient age is a predictive factor of surgical outcomes among patients with chronic rhinosinusitis and NP, and that geriatric patients exhibit better outcomes than pediatric and adult patients. We postulated that better outcomes in the geriatric population may be secondary to decreased proliferation and angiogenesis within polyps. Therefore, we evaluated the cellular proliferation and angiogenesis in young adult and geriatric patients with NP. This was a prospective case-control study. Twenty patients were divided into 2 groups according to age (20 to 30 years vs ≥65 years of age). NP tissues were sampled during endoscopic sinus surgery and processed for immunohistochemistry. Cellular proliferation was evaluated with proliferating cell nuclear antigen and Ki67, and angiogenesis was assessed with vascular endothelial growth factor. We also compared objective surgical outcomes using endoscopy scores. Immunohistochemical analysis revealed significantly higher expression and positive reactivity of proliferating cell nuclear antigen and Ki67 in the polyps of young adults than in those of geriatric patients, whereas the expression of vascular endothelial growth factor was similar between the 2 groups. Endoscopy scores were better in the geriatric group. Geriatric patients have a lower cellular proliferative ability than young adults, and angiogenesis does not significantly differ between the 2 age groups. Cellular proliferation seems to be the cause of the different surgical outcomes between the 2 age groups, whereas angiogenesis has no significant influence on the postoperative course. © 2015 ARS-AAOA, LLC.

  3. CLINICAL EVALUATION OF EFFECTIVENESS OF ITRACONAZOLE IN PREOPERATIVE AND REFRACTORY POSTOPERATIVE PATIENTS OF ALLERGIC FUNGAL SINUSITIS

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    Ch. Venkatasubbaiah

    2016-07-01

    Full Text Available BACKGROUND Allergic Fungal Sinusitis (AFS is a noninvasive type of fungal sinusitis, clinically and pathologically a unique entity of chronic rhinosinusitis. The aetiology, pathogenesis, and treatment of AFS are subject to controversy. In spite of aggressive endoscopic surgery, pre- and postoperative steroids and immunotherapy recurrence rates are high. Many additions are made to its original description and management since its early description in 1980. The aim of the present paper was to evaluate clinically. The response to high-dose itraconazole before endoscopic sinus surgery and in refractory postoperative patients. Related literature was reviewed in the light of the present study. MATERIALS AND METHODS A 2 year prospective study conducted on 68 AFS patients divided into two groups to clinically evaluate the results after using oral itraconazole preoperatively in one group and in refractory postoperative period in another. RESULTS The mean age of patients with typical AFS was 36±3.9 years. Patients with AFS with an average follow up of 21 months were included. Recurrence was 6/34 (17.64% in itraconazole group and revision FESS done in 3/34 (08.82%. Recurrence in patients without itraconazole was 16/34 (47.05% and refractory to conventional treatment, but responded to itraconazole in 14/16 (87.50%. Revision surgery required in 2/16 (12.50% after starting oral itraconazole. No side effects or reactions were observed in a total of 7920 doses administered. CONCLUSION Itraconazole is well tolerated by patients and effective in shrinking the polyposis preoperatively with low recurrence. Postoperative refractory AFS is amenable in (87.50% of patients avoiding repeat FESS. Overall, low recurrence rate and minimizing revision surgery when compared to patients treated without itraconazole was evident in the study.

  4. Association of rs6983267 at 8q24, HULC rs7763881 polymorphisms and serum lncRNAs CCAT2 and HULC with colorectal cancer in Egyptian patients.

    Science.gov (United States)

    Shaker, Olfat G; Senousy, Mahmoud A; Elbaz, Eman M

    2017-11-24

    The impact of HULC rs7763881 on colorectal cancer (CRC) susceptibility is not yet known. Also, the biological function of the cancer-related rs6983267 remains unclear. We investigated the association of these SNPs with the risk of CRC and adenomatous polyps (AP), their correlation with CCAT2 and HULC expression, and the potential of serum CCAT2 and HULC as biomarkers for CRC. 120 CRC patients, 30 AP patients, and 96 healthy controls were included. Genotyping and serum lncRNAs were assayed by qPCR. Studied SNPs were not associated with AP susceptibility. rs6983267 GG was associated with increased CRC risk, whereas rs7763881 AC was protective. rs7763881 and rs6983267 CT haplotype was protective. Serum CCAT2 and HULC were upregulated in CRC and AP patients versus controls and discriminated these groups by ROC analysis. rs6983267 GG and rs7763881 AA patients demonstrated higher serum CCAT2 and HULC compared with GT/TT and AC, respectively. rs6983267 and serum HULC predicted CRC diagnosis among non-CRC groups (AP + controls) by multivariate analysis. Studied SNPs or serum long noncoding RNAs weren't correlated with nodal or distant metastasis. In conclusion, rs6983267 and rs7763881 are potential genetic markers of CRC predisposition and correlate with serum CCAT2 and HULC, two novel potential non-invasive diagnostic biomarkers for CRC.

  5. Antibiofilm effects of topical corticosteroids and intranasal saline in patients with chronic rhinosinusitis with nasal polyps depend on bacterial species and their biofilm-forming capacity.

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    Cirkovic, Ivana; Pavlovic, Bojan; Bozic, Dragana D; Jotic, Ana; Bakic, Ljubica; Milovanovic, Jovica

    2017-04-01

    Microbial biofilms have been implicated in the pathogenesis of chronic rhinosinusitis with nasal polyposis (CRSwNP). Intranasal application of corticosteroids and saline is a reliable option for their management. The aim of our study was to evaluate in vitro antibiofilm effects of corticosteroids and isotonic and hypertonic nasal saline in CRSwNP patients. The sinus mucosal specimens were harvested from the ethmoid cavity of 48 patients with CRSwNP and further subjected to hematoxylin-eosin staining and microbiology analysis. The biofilm-forming capacity of isolated bacterial strains was detected by microtiter-plate method and the effects of therapeutic doses of mometasone, fluticasone, isotonic and hypertonic saline on biofilm production were investigated. Bacterial strains were isolated in 42 (87.5%) patients: one organism in 34 (80.9%) and two organisms in 8 (19.1%). Staphylococcus epidermidis (34%) and Staphylococcus aureus (28%) were the most prevalent bacteria in biofilms of CRSwNP patients. Corticosteroids and saline solutions significantly reduced biofilm formation (p corticosteroids and saline solutions also greatly depended on bacterial biomass (p < 0.05), with the most significant effect on high compared to small amount of formed biofilm. The topical steroids and nasal saline are shown to be potent antibiofilm agents in patients with CRSwNP. The effects of tested compounds depend on bacterial species and volume of formed biofilm.

  6. Is surveillance colonoscopy necessary for patients with sporadic gastric hyperplastic polyps?

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    Cao, Hailong; He, Nana; Song, Shuli; Xu, Mengque; Piao, Meiyu; Yan, Fang; Wang, Bangmao

    2015-01-01

    Gastric polyps, such as adenomas and hyperplastic polyps, can be found in various colonic polyposis syndromes. Unlike in sporadic gastric adenomas, in which the increased risk of colorectal neoplasia has been well characterized, information in sporadic gastric hyperplastic polyps was limited. To evaluate the association of sporadic gastric hyperplastic polyps with synchronous colorectal neoplasia in a large cohort. Patients with sporadic gastric hyperplastic polyps who underwent colonoscopy simultaneously or within six months were consecutively enrolled. Each patient was compared with two randomly selected age and sex matched controls without gastric polyps who also underwent colonoscopy in the same period. Data of patients' demographics and characteristics of the gastrointestinal polyps were documented. A total of 261 cases in 118,576 patients who underwent esophagogastroduodenoscopy were diagnosed as sporadic gastric hyperplastic polyps, and 192 of 261 (73.6%) patients underwent colonoscopy. Colorectal neoplasias were identified in 46 (24.0%) of 192 cases and in 40 (10.4%) of 384 controls (P<0.001). The mean size and distribution of colorectal neoplasias were not significantly different between the two groups. There was a significantly higher rate of colorectal adenoma (odds ratio [OR] 3.2, 95% confidence interval [CI] 1.9-5.3) in the gastric hyperplastic polyps group than in the control group, while the prevalence of colorectal cancer was similar in the two groups. Logistic regression analysis also suggested that the presence of gastric hyperplastic polyps (OR 2.5, 95% CI 1.5-4.0) was an independent risk factor for colorectal neoplasias. The risk of colorectal adenoma increases in patients with sporadic gastric hyperplastic polyps, and surveillance colonoscopy for these patients should be considered.

  7. Is surveillance colonoscopy necessary for patients with sporadic gastric hyperplastic polyps?

    Directory of Open Access Journals (Sweden)

    Hailong Cao

    Full Text Available Gastric polyps, such as adenomas and hyperplastic polyps, can be found in various colonic polyposis syndromes. Unlike in sporadic gastric adenomas, in which the increased risk of colorectal neoplasia has been well characterized, information in sporadic gastric hyperplastic polyps was limited.To evaluate the association of sporadic gastric hyperplastic polyps with synchronous colorectal neoplasia in a large cohort.Patients with sporadic gastric hyperplastic polyps who underwent colonoscopy simultaneously or within six months were consecutively enrolled. Each patient was compared with two randomly selected age and sex matched controls without gastric polyps who also underwent colonoscopy in the same period. Data of patients' demographics and characteristics of the gastrointestinal polyps were documented.A total of 261 cases in 118,576 patients who underwent esophagogastroduodenoscopy were diagnosed as sporadic gastric hyperplastic polyps, and 192 of 261 (73.6% patients underwent colonoscopy. Colorectal neoplasias were identified in 46 (24.0% of 192 cases and in 40 (10.4% of 384 controls (P<0.001. The mean size and distribution of colorectal neoplasias were not significantly different between the two groups. There was a significantly higher rate of colorectal adenoma (odds ratio [OR] 3.2, 95% confidence interval [CI] 1.9-5.3 in the gastric hyperplastic polyps group than in the control group, while the prevalence of colorectal cancer was similar in the two groups. Logistic regression analysis also suggested that the presence of gastric hyperplastic polyps (OR 2.5, 95% CI 1.5-4.0 was an independent risk factor for colorectal neoplasias.The risk of colorectal adenoma increases in patients with sporadic gastric hyperplastic polyps, and surveillance colonoscopy for these patients should be considered.

  8. Pilot Clinical Trial of Indocyanine Green Fluorescence-Augmented Colonoscopy in High Risk Patients

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    Rahul A. Sheth

    2016-01-01

    Full Text Available White light colonoscopy is the current gold standard for early detection and treatment of colorectal cancer, but emerging data suggest that this approach is inherently limited. Even the most experienced colonoscopists, under optimal conditions, miss at least 15–25% of adenomas. There is an unmet clinical need for an adjunctive modality to white light colonoscopy with improved lesion detection and characterization. Optical molecular imaging with exogenously administered organic fluorochromes is a burgeoning imaging modality poised to advance the capabilities of colonoscopy. In this proof-of-principle clinical trial, we investigated the ability of a custom-designed fluorescent colonoscope and indocyanine green, a clinically approved fluorescent blood pool imaging agent, to visualize polyps in high risk patients with polyposis syndromes or known distal colonic masses. We demonstrate (1 the successful performance of real-time, wide-field fluorescence endoscopy using off-the-shelf equipment, (2 the ability of this system to identify polyps as small as 1 mm, and (3 the potential for fluorescence imaging signal intensity to differentiate between neoplastic and benign polyps.

  9. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

    Science.gov (United States)

    Gómez-Fernández, Nuria; Castellví-Bel, Sergi; Fernández-Rozadilla, Ceres; Balaguer, Francesc; Muñoz, Jenifer; Madrigal, Irene; Milà, Montserrat; Graña, Begoña; Vega, Ana; Castells, Antoni; Carracedo, Angel; Ruiz-Ponte, Clara

    2009-06-16

    Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently, biallelic mutations in MUTYH have also been identified in patients with multiple colorectal adenomas and in APC-negative patients with FAP. The aim of this work is therefore to determine the frequency of APC and MUTYH mutations among FAP families from two Spanish populations. Eighty-two unrelated patients with classical or attenuated FAP were screened for APC germline mutations. MUTYH analysis was then conducted in those APC-negative families and in 9 additional patients from a previous study. Direct sequencing, SSCP analysis and TaqMan genotyping were used to identify point and frameshift mutations, meanwhile large rearrangements in the APC gene were screened by multiplex ligation-dependent probe amplification (MLPA). APC germline mutations were found in 39% of the patients and, despite the great number of genetic variants described so far in this gene, seven new mutations were identified. The two hotspots at codons 1061 and 1309 of the APC gene accounted for 9,4% of the APC-positive families, although they were underrepresented in Galician samples. The deletion at codon 1061 was not found in 19 APC-positive Galician patients but represented 23% of the Catalonian positive families (p = 0,058). The same trend was observed at codon 1309, even though statistical analysis showed no significance between populations. Twenty-four percent of the APC-negative patients carried biallelic MUTYH germline mutations, and showed an attenuated polyposis phenotype generally without extracolonic manifestations. New genetic variants were found, as well as the two hotspots already reported (p.Tyr165Cys and p.Gly382Asp). The results we present indicate that in Galician patients the frequency of the hotspot at codon 1061 in APC differs significantly from the Catalonian and also other Caucasian populations. Similar results had already

  10. Incidence of aspirin hypersensitivity in patients with chronic rhinosinusitis and diagnostic value of urinary leukotriene E4.

    Science.gov (United States)

    Celejewska-Wójcik, Natalia; Mastalerz, Lucyna; Wójcik, Krzysztof; Nieckarz, Rafał; Januszek, Rafał; Hartwich, Patryk; Szaleniec, Joanna; Hydzik-Sobocińska, Karolina; Oleś, Krzysztof; Cybulska, Agnieszka; Stręk, Paweł; Sanak, Marek

    2012-01-01

    Chronic rhinosinusitis (CRS) with nasal polyposis (NP) may be associated with hypersensitivity to nonsteroidal anti-inflammatory drugs, representing a syndrome of aspirin-exacerbated respiratory disease (AERD). The aim of the study was to validate a simple measurement of urinary leukotriene E4 (uLTE4) excretion for the diagnosis of AERD in patients with CRS and indication for surgery. Subjects requiring functional endoscopic sinus surgery (FESS) were recruited from the Department of Otolaryngology (n = 24). Before surgery, a standard oral placebo-controlled aspirin challenge was performed to diagnose aspirin hypersensitivity. Urine samples were collected on the placebo day and both before and within 2 to 4 hours after aspirin challenge for uLTE4 measurement. All patients with CRS had sinusitis confirmed by computed tomography. Previous ear, nose, and throat surgery was performed in 70% of the patients, NP was present in 86%, and asthma was diagnosed in 62.5%. AERD was diagnosed in 8 subjects (7 women and 1 man). Five of those patients had bronchoconstriction. At baseline, median uLTE4 was 7.5-times higher in AERD subjects than in the remaining patients. It increased almost 6-fold following the challenge, while remained unchanged in patients without aspirin hypersensitivity. Pretest uLTE4 had a sensitivity of 87.5% and specificity of 93.75% to diagnose aspirin hypersensitivity in patients with CRS. After the challenge, the values improved to 100% sensitivity and 93% specificity. Among CRS subjects requiring FESS, as many as 33.3% may have AERD and respond to a small provocative dose of aspirin with bronchoconstriction and/or mucosal and skin edema. A simple and inexpensive measurement of uLTE4 can help diagnose AERD in patients with CRS with sensitivity of 87.5%, but its specificity is limited and depends on the arbitrary threshold of uLTE4.

  11. Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1

    DEFF Research Database (Denmark)

    Skoglund, J; Djureinovic, T; Zhou, X-L

    2006-01-01

    BACKGROUND: The best known hereditary colorectal cancer syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), constitute about 2% of all colorectal cancers, and there are at least as many non-FAP, non-HNPCC cases where the family history suggests...... previously been investigated but following the identification of adenomas in several previously unaffected family members, these subjects were now considered to be gene carriers. RESULTS: In the present study, we found linkage of adenoma and colorectal cancer to chromosome 9q22.32-31.1 with a multipoint LOD...... a dominantly inherited colorectal cancer risk. Recently, a locus on chromosome 9q22.2-31.2 was identified by linkage analysis in sib pairs with colorectal cancer or adenoma. METHODS: Linkage analysis for the suggested locus on chromosome 9 was carried out in an extended Swedish family. This family had...

  12. Short-term carcinogenicity testing of a potent murine intestinal mutagen, 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine (PhIP), in Apc1638N transgenic mice

    DEFF Research Database (Denmark)

    Sørensen, Ilona Kryspin; Kristiansen, E.; Mortensen, Alicja

    1997-01-01

    Transgenic Apc1638N mice, heterozygous for a targeted frameshift mutation at codon 1638 of the endogenous adenomatous polyposis coli (APC) gene, are predisposed to develop multiple adenomas and adenocarcinomas along the intestinal tract and to a number of extra-intestinal lesions including, among...... increased number of small intestinal tumors as well as an increased number of aberrant crypt foci (ACF) were observed in male Apc(+)/Apc1638N mice compared with untreated transgenic mice, No differences in intestinal and mammary tumor multiplicity were observed between treated and control Apc(+)/Apc1638N...

  13. Integrated Cancer Repository for Cancer Research

    Science.gov (United States)

    2017-05-05

    Pancreatic Cancer; Thyroid Cancer; Lung Cancer; Esophageal Cancer; Thymus Cancer; Colon Cancer; Rectal Cancer; GIST; Anal Cancer; Bile Duct Cancer; Duodenal Cancer; Gallbladder Cancer; Gastric Cancer; Liver Cancer; Small Intestine Cancer; Peritoneal Surface Malignancies; Familial Adenomatous Polyposis; Lynch Syndrome; Bladder Cancer; Kidney Cancer; Penile Cancer; Prostate Cancer; Testicular Cancer; Ureter Cancer; Urethral Cancer; Hypopharyngeal Cancer; Laryngeal Cancer; Lip Cancer; Oral Cavity Cancer; Nasopharyngeal Cancer; Oropharyngeal Cancer; Paranasal Sinus Cancer; Nasal Cavity Cancer; Salivary Gland Cancer; Skin Cancer; CNS Tumor; CNS Cancer; Mesothelioma; Breastcancer; Leukemia; Melanoma; Sarcoma; Unknown Primary Tumor; Multiple Myeloma; Ovarian Cancer; Endometrial Cancer; Vaginal Cancer

  14. CD24 and APC Genetic Polymorphisms in Pancreatic Cancers as Potential Biomarkers for Clinical Outcome.

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    Sivan Shamai

    Full Text Available There are no validated biomarkers that correlate with the prognosis of pancreatic ductal adenocarcinoma (PDA. The CD24 and adenomatous polyposis coli (APC genes are important in the malignant transformation of gastrointestinal cells. This study examined APC and CD24 genetic polymorphisms and their possible impact on survival of patients with PDA.Clinical and pathological data as well as blood samples for extracting DNA were obtained for 73 patients with PDA. Real-time PCR assessed genetic variants of APC (I1307K and E1317Q, and four different single nucleotide polymorphisms (SNPs in the CD24 gene: C170T (rs52812045, TG1527del (rs3838646, A1626G (rs1058881 and A1056G (rs1058818.The median age at diagnosis was 64 (41-90 years. Thirty-one patients (42.5% were operable, 16 (22% had locally advanced disease and 26 (35.5% had disseminated metastatic cancer. The malignancy-related mortality rate was 84%. Median survival was 14 months (11.25-16.74. Survival was similar for wild-type (WT, heterozygous and homozygous variants of the APC or CD24 genes. The three most frequent CD24 SNP combinations were: heterozygote for A1626G and WT for the rest of the alleles (14% of patients, heterozygote for C170T, A1626G, A1056G and WT for the rest (14% of patients, and heterozygote for C170T, A1056G and WT for the rest (10% of patients. All patients were APC WT. The first two groups were significantly younger at diagnosis than the third group.Specific polymorphisms in the APC and CD24 genes may play a role in pancreatic cancer development. Correlation with survival requires a larger cohort.

  15. Anal Canal Adenocarcinoma in a Patient with Longstanding Crohn's Disease Arising From Rectal Mucosa that Migrated From a Previously Treated Rectovaginal Fistula.

    Science.gov (United States)

    Maejima, Taku; Kono, Toru; Orii, Fumika; Maemoto, Atsuo; Furukawa, Shigeru; Liming, Wang; Kasai, Shoji; Fukahori, Susumu; Mukai, Nobutaka; Yoshikawa, Daitaro; Karasaki, Hidenori; Saito, Hiroya; Nagashima, Kazuo

    2016-07-04

    BACKGROUND This study reports the pathogenesis of anal canal adenocarcinoma in a patient with longstanding Crohn's disease (CD). CASE REPORT A 50-year-old woman with a 33-year history of CD presented with perianal pain of several months' duration. She had been treated surgically for a rectovaginal fistula 26 years earlier and had been treated with infliximab (IFX) for the previous 4 years. A biopsy under anesthesia revealed an anal canal adenocarcinoma, which was removed by abdominoperineal resection. Pathological examination showed that a large part of the tumor consisted of mucinous adenocarcinoma at the same location as the rectovaginal fistula had been removed 26 years earlier. There was no evidence of recurrent rectovaginal fistula, but thick fibers surrounded the tumor, likely representing part of the previous rectovaginal fistula. Immunohistochemical analysis using antibodies against cytokeratins (CK20 and CK7) revealed that the adenocarcinoma arose from the rectal mucosa, not the anal glands. CONCLUSIONS Mucinous adenocarcinoma can arise in patients with CD, even in the absence of longstanding perianal disease, and may be associated with adenomatous transformation of the epithelial lining in a former fistula tract.

  16. Juvenil polypose-syndrom er en sjælden årsag til kræft i gastrointestinalkanalen

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Tørring, Pernille Mathiesen; Qvist, Niels

    2014-01-01

    Juvenile polyposis syndrome is an autosomal dominant polyposis syndrome. It is characterized by predisposition to multiple juvenile polyps in the gastrointestinal tract and is associated with an increased risk of colorectal and ventricular cancer. Patients and at risk family members should...

  17. Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics.

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    Daniel D Buchanan

    2010-07-01

    Full Text Available Patients with multiple serrated polyps are at an increased risk for developing colorectal cancer (CRC. Recent reports have linked cigarette smoking with the subset of CRC that develops from serrated polyps. The aim of this work therefore was to investigate the association between smoking and the risk of CRC in high-risk genetics clinic patients presenting with multiple serrated polyps.We identified 151 Caucasian individuals with multiple serrated polyps including at least 5 outside the rectum, and classified patients into non-smokers, current or former smokers at the time of initial diagnosis of polyposis. Cases were individuals with multiple serrated polyps who presented with CRC. Controls were individuals with multiple serrated polyps and no CRC. Multivariate logistic regression was performed to estimate associations between smoking and CRC with adjustment for age at first presentation, sex and co-existing traditional adenomas, a feature that has been consistently linked with CRC risk in patients with multiple serrated polyps. CRC was present in 56 (37% individuals at presentation. Patients with at least one adenoma were 4 times more likely to present with CRC compared with patients without adenomas (OR = 4.09; 95%CI 1.27 to 13.14; P = 0.02. For females, the odds of CRC decreased by 90% in current smokers as compared to never smokers (OR = 0.10; 95%CI 0.02 to 0.47; P = 0.004 after adjusting for age and adenomas. For males, there was no relationship between current smoking and CRC. There was no statistical evidence of an association between former smoking and CRC for both sexes.A decreased odds for CRC was identified in females with multiple serrated polyps who currently smoke, independent of age and the presence of a traditional adenoma. Investigations into the biological basis for these observations could lead to non-smoking-related therapies being developed to decrease the risk of CRC and colectomy in these patients.

  18. Juvenile polyposis syndrome presenting as intussusception in a ...

    African Journals Online (AJOL)

    Examination of the sample showed innumerable carpet-like polyps and 18 pedunculated polyps in the ascending and transverse colon. All the polyps have microscopic features consistent with juvenile polyps with no evidence of atypia. She was discharged a week after surgery and follow-up at outpatient clinic showed ...

  19. The clinical and pathological features of hereditary mixed polyposis ...

    African Journals Online (AJOL)

    A family tree was drawn up and the three children of the proband underwent flexible sigmoidoscopy. Results. Endoscopic surveillance of the three children revealed one who had a similar phenotype to the mother. This child underwent colectomy and ileorectal anastomosis. The pathological specimen revealed more than ...

  20. Does immunotherapy reduce the recurrence rate in nasal polyposis?

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    T A El-Samny

    2014-01-01

    Conclusion We found that immunotherapy could help in improving patients′ clinical symptoms and subsequently their quality of life; postoperative immunotherapy in addition can delay the recurrence, although it does not decrease the recurrence rate significantly.

  1. Hereditary non-polyposis colorectal carcinoma (HNPCC) in a ...

    African Journals Online (AJOL)

    ... of eight siblings had developed colorectal cancer, with incidence in three consecutive generations. This family satisfied Amsterdam criteria (I and II) for Lynch syndrome: three generations affected, six of them below age 50, with proximal colon tumours. Genetic testing showed loss of mismatched repair protein gene MSL2.

  2. Early Transcriptomic Changes in the Ileal Pouch Provide Insight into the Molecular Pathogenesis of Pouchitis and Ulcerative Colitis

    Energy Technology Data Exchange (ETDEWEB)

    Huang, Yong; Dalal, Sushila; Antonopoulos, Dionysios; Hubert, Nathaniel; Raffals, Laura H.; Dolan, Kyle; Weber, Christopher; Messer, Jeannette S.; Jabri, Bana; Bendelac, Albert; Eren, A. Murat; Rubin, David T.; Sogin, Mitch; Chang, Eugene B.

    2017-01-01

    Background: Ulcerative colitis (UC) only involves the colonic mucosa. Yet, nearly 50% of patients with UC who undergo total proctocolectomy with ileal pouch anal anastomosis develop UC-like inflammation of the ileal pouch (pouchitis). By contrast, patients with familial adenomatous polyposis (FAP) with ileal pouch anal anastomosis develop pouchitis far less frequently. We hypothesized that pathogenic events associated with the development of UC are recapitulated by colonic-metaplastic transcriptomic reprogramming of the UC pouch. Methods: We prospectively sampled pouch and prepouch ileum mucosal biopsies in patients with UC with ileal pouch anal anastomosis 4, 8, and 12 months after their pouch was in continuity. Mucosal samples were also obtained from patients with FAP. Transcriptional profiles of the UC and FAP pouch and prepouch ileum were investigated via RNA sequencing and compared with data from a previously published microarray study. Results: Unlike patients with FAP, subjects with UC exhibited a large set of differentially expressed genes between the pouch and prepouch ileum as early as 4 months after pouch functionalization. Functional pathway analysis of differentially expressed genes in the UC pouch revealed an enhanced state of immune/inflammatory response and extracellular matrix remodeling. Moreover, >70% of differentially expressed genes mapped to published inflammatory bowel diseases microarray data sets displayed directional changes consistent with active UC but not with Crohn's disease. Conclusions: The UC pouch, well before histologic inflammation, already displays a systems-level gain of colon-associated genes and loss of ileum-associated genes. Patients with UC exhibit a unique transcriptomic response to ileal pouch creation that can be observed well before disease and may in part explain their susceptibility to the development of pouchitis.

  3. Thyroid abnormality trend over time in northeastern regions of Kazakstan, adjacent to the Semipalatinsk nuclear test site. A case review of pathological findings for 7271 patients

    Energy Technology Data Exchange (ETDEWEB)

    Zhumadilov, Z. [Semipalatinsk State Medical Academy (Kazakstan); Gusev, B.I.; Takada, Jun; Hoshi, Masaharu; Kimura, Akiro; Hayakawa, Norihiko; Takeichi, Nobuo

    2000-03-01

    From 1949 through 1989 nuclear weapons testing carried out by the former Soviet Union at the Semipalatinsk Nuclear Test Site (SNTS) resulted in local fallout affecting the residents of Semipalatinsk, Ust-Kamenogorsk and Pavlodar regions of Kazakstan. To investigate the possible relationship between radiation exposure and thyroid gland abnormalities, we conducted a case review of pathological findings of 7271 urban and rural patients who underwent surgery from 1966-96. Of the 7271 patients, 761 (10.5%) were men, and 6510 (89.5%) were women. The age of the patients varied from 15 to 90 years. Overall, a diagnosis of adenomatous goiter (most frequently multinodular) was found in 1683 patients (63.4%) of Semipalatinsk region, in 2032 patients (68.6%) of Ust-Kamenogorsk region and in 1142 patients (69.0%) of Pavlodar region. In the period 1982-96, as compared before, there was a noticeable increase in the number of cases of Hashimoto's thyroiditis and thyroid cancer. Among histological forms of thyroid cancer, papillary (48.1%) and follicular (33.1%) predominated in the Semipalatinsk region. In later periods (1987-96), an increased frequency of abnormal cases occurred among patients less than 40 years of age, with the highest proportion among patients below 20 in Semipalatinsk and Ust-Kamenogorsk regions of Kazakstan. Given the positive findings of a significant cancer-period interaction, and a significant trend for the proportion of cancer to increase over time, we recommend more detailed and etiologic studies of thyroid disease among populations exposed to radiation fallout from the SNTS in comparison to non-exposed population. (author)

  4. C57BL/KsJ-db/db-ApcMin/+ Mice Exhibit an Increased Incidence of Intestinal Neoplasms

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    Yoshinobu Hirose

    2011-11-01

    Full Text Available The numbers of obese people and diabetic patients are ever increasing. Obesity and diabetes are high-risk conditions for chronic diseases, including certain types of cancer, such as colorectal cancer (CRC. The aim of this study was to develop a novel animal model in order to clarify the pathobiology of CRC development in obese and diabetic patients. We developed an animal model of obesity and colorectal cancer by breeding the C57BL/KsJ-db/db (db/db mouse, an animal model of obesity and type II diabetes, and the C57BL/6J-ApcMin/+ (Min/+ mouse, a model of familial adenomatous polyposis. At 15 weeks of age, the N9 backcross generation of C57BL/KsJ-db/db-ApcMin/+ (db/db-Min/+ mice developed an increased incidence and multiplicity of adenomas in the intestinal tract when compared to the db/m-Min/+ and m/m-Min/+ mice. Blood biochemical profile showed significant increases in insulin (8.3-fold to 11.7-fold, cholesterol (1.2-fold to 1.7-fold, and triglyceride (1.2-fold to 1.3-fold in the db/db-Min/+ mice, when compared to those of the db/m-Min/+ and m/m-Min/+ mice. Increases (1.4-fold to 2.6-fold in RNA levels of insulin-like growth factor (IGF-1, IRF-1R, and IGF-2 were also observed in the db/db-Min/+ mice. These results suggested that the IGFs, as well as hyperlipidemia and hyperinsulinemia, promoted adenoma formation in the db/db-Min/+ mice. Our results thus suggested that the db/db-Min/+ mice should be invaluable for studies on the pathogenesis of CRC in obese and diabetes patients and the therapy and prevention of CRC in these patients.

  5. A morphologic reappraisal of endoscopically but not histologically apparent polyps and the emergence of the overlooked goblet cell--rich hyperplastic polyp.

    Science.gov (United States)

    Sethi, Aisha; Hanson, Joshua Anspach

    2015-08-01

    Goblet cell--rich hyperplastic polyps (GCRHP) are morphologically subtle compared to microvesicular hyperplastic polyps (MVHP) and are believed to be the most commonly unrecognized serrated polyp, though this has not been systematically studied. We hypothesize that a gastrointestinal pathologist's review of endoscopically but not histologically apparent polyps will identify previously missed GCRHPs, a finding that may be clinically significant if the addition of this subtype of serrated polyp contributes to sufficient numeric criteria for a clinical diagnosis of serrated polyposis syndrome (SPS). Two blinded reviews were performed on 160 endoscopically but not histologically apparent polyps by a gastrointestinal pathologist, separated by a 6 month "washout period." A final review diagnosis of GCRHP was applied to all polyps with complete agreement on both reviews. Patient records were then searched to determine if the addition of a GCRHP resulted in sufficient numeric criteria for a clinical diagnosis of SPS. Fourteen (9%) polyps were reclassified as GCRHPs. The majority (n = 12, 86%) were originally called "colonic mucosa with surface hyperplastic change (CMWSHC)." Two polyps (1%) were re-classified as MVHPs. No other serrated or adenomatous polyps were identified. For each patient, the addition of a hyperplastic polyp did not result in a clinical diagnosis of SPS, though one patient fell short of this diagnosis by only one polyp. GCRHPs are the most commonly underdiagnosed serrated polyp and are often called CMWSHC. The addition of previously missed GCRHPs is unlikely to contribute to a diagnosis of SPS in an individual patient. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Single-incision laparoscopic colectomy without using special articulating instruments: an initial experience

    Directory of Open Access Journals (Sweden)

    Trakarnsanga Atthaphorn

    2011-12-01

    Full Text Available Abstract Background Single-incision laparoscopic colectomy (SILC was introduced as a novel minimally invasive technique. The benefits of this technique include reducing number of the incision and cosmetic improvement. Unlike the conventional laparoscopic colectomy, majority of previously reported SILC need to be performed using special curved or articulated instruments. The purpose of this study is to demonstrate our initial experience of SILC, which could be performed using the standard laparoscopic instruments. Material and methods Retrospective review of 14 patients who underwent SILC at Siriraj Hospital from May to December 2010, patient's demographic data, perioperative outcomes, early postoperative complications and pathological data were collected and analyzed. Results The mean age of all patients was 60 years. The most common operation with SILC was sigmoidectomy (n = 9, followed by right hemicolectomy (n = 2, left hemicolectomy (n = 1, anterior resection (n = 1, and total colectomy (n = 1. The trocar insertion techniques were multi-fascial incision using regular port (n = 11 and GelPOINT® (n = 3. The mean operative time was 155 minutes (range 90-280 and the mean estimate blood loss was 32.1 mL (range 10-100. All patients were successfully operated without conversion. The mean length of hospital stay was 9 days (range 5-20. There was no mortality. The pathological results revealed colorectal cancer (n = 12, neoplastic polyp (n = 1 and Familial adenomatous polyposis (FAP (n = 1. The mean number of lymph nodes retrieval was 16.6 (range 3-34. Conclusion SILC can successfully and safely be performed with standard laparoscopic instruments. This technique might be an alternative procedure to conventional laparoscopic colectomy with better cosmetic result.

  7. A characterization of anaerobic colonization and associated mucosal adaptations in the undiseased ileal pouch.

    LENUS (Irish Health Repository)

    Smith, F M

    2012-02-03

    INTRODUCTION: The resolution of pouchitis with metronidazole points to an anaerobic aetiology. Pouchitis is mainly seen in patients with ulcerative colitis pouches (UCP). We have recently found that sulphate reducing bacteria (SRB), a species of strict anaerobe, colonize UCP exclusively. Herein, we aimed to correlate levels of different bacterial species (including SRB) with mucosal inflammation and morphology. METHODS: Following ethical approval, fresh faecal samples and mucosal biopsies were taken from 9 patients with UCP and 5 patients with familial adenomatous polyposis pouches (FAPP). For the purposes of comparison, faecal samples and mucosal biopsies were also taken from the stomas of 7 of the 9 patients with UC (UCS). Colonization by four types of strict anaerobes (SRB, Clostridium perfringens, Bifidobacteria and Bacteroides) as well as by three types of facultative anaerobes (Enterococci, Coliforms and Lactobacilli) was evaluated. Inflammatory scores and mucosal morphology were assessed histologically in a blinded fashion by a pathologist. RESULTS: In general, strict anaerobes predominated over facultative in the UCP (P = 0.041). SRB were present in UCP exclusively. Even after exclusion of SRB from total bacterial counts, strict anaerobes still predominated. In the UCS, facultative anaerobes predominated. Strict and facultative anaerobes were present at similar levels in the FAPP. Enterococci were present at significantly reduced levels in the UCP when compared with the UCS (P = 0.031). When levels of SRB and other anaerobic species were individually correlated with mucosal inflammation and morphology, no trends were observed. CONCLUSION: We have previously identified that SRB exclusively colonize UCP. In addition we have now identified a novel increase in the strict\\/facultative anaerobic ratio within the UCP compared to UCS. These stark differences in bacterial colonization, however, appear to have limited impact on mucosal inflammation or morphology.

  8. Impact of ileal pouch-anal anastomosis on female fertility: meta-analysis and systematic review.

    Science.gov (United States)

    Rajaratnam, Siraj G; Eglinton, Timothy W; Hider, Phil; Fearnhead, Nicola S

    2011-11-01

    The aim of this review is to determine the effect of ileal pouch-anal anastomosis (IPAA) on female fertility in ulcerative colitis (UC) and familial adenomatous polyposis (FAP), the mechanisms of this effect, strategies for prevention and management of infertility post-IPAA. This paper is a systematic literature review of all articles investigating IPAA and fertility from 1966 onwards that were found searching the Medline and Embase databases. Meta-analysis was performed on relevant studies. Seventeen relevant studies were identified. Six studies were excluded (duplicate data, one; predominantly not IPAA patients, one; no control group, four). The control groups of the remaining 11 studies were too varied for comparison, and so the meta-analysis was limited to six studies that provided data on infertility both pre- and post-IPAA. Five of these involved predominantly UC patients and one FAP. Average infertility rates were 20% pre-IPAA and 63% post-IPAA. The relative risk of infertility after IPAA is 3.91 ([2.06, 7.44] 95% CI). The possibility of publication bias suggests that the risk may be lower. Any increased risk is probably due to tubal dysfunction secondary to adhesions. Various methods have been proposed to reduce pelvic adhesions, but there is no evidence they have any effect in preventing infertility. Infertility treatment post-IPAA is associated with good success rates. Infertility is increased after IPAA in female patients in both UC and FAP. Both these disease processes affect patients during their reproductive years. This evidence emphasizes the need for careful consideration of fertility in the choice and timing of surgery.

  9. Outcome after restorative proctocolectomy and ileal pouch-anal anastomosis in children and adults.

    Science.gov (United States)

    Diederen, K; Sahami, S S; Tabbers, M M; Benninga, M A; Kindermann, A; Tanis, P J; Oomen, M W; de Jong, J R; Bemelman, W A

    2017-11-01

    Studies comparing the outcome of ileal pouch-anal anastomosis (IPAA) in children and adults are scarce. This complicates decision-making in young patients. The aim of this study was to compare adverse events and pouch function between children and adults who underwent IPAA. This cross-sectional cohort study included all consecutive children (aged less than 18 years) and adults with a diagnosis of inflammatory bowel disease or familial adenomatous polyposis who underwent IPAA in a tertiary referral centre between 2000 and 2015. Adverse events were assessed by chart review, and pouch function by interview using a pouch function score (PFS). In total, 445 patients underwent IPAA: 41 children (median age 15 years) and 404 adults (median age 39 years), with a median follow-up of 22 (i.q.r. 8-68) months. Being overweight (P = 0·001), previous abdominal surgery (P = 0·018), open procedures (P children than adult patients. The occurrence of anastomotic leakage, surgical fistulas, chronic pouchitis and Crohn's of the pouch was not associated with paediatric age at surgery, nor was pouch failure. The development of anastomotic strictures was associated with having IPAA surgery during childhood (odds ratio 4·22, 95 per cent c.i. 1·13 to 15·77; P = 0·032). Pouch function at last follow-up was similar in the children and adult groups (median PFS 5·0 versus 6·0 respectively; P = 0·194). Long-term pouch failure rates and pouch function were similar in children and adults. There is no need for a more cautious attitude to use of IPAA in children based on concerns about poor outcome. © 2017 BJS Society Ltd Published by John Wiley & Sons Ltd.

  10. Cronkhite-Canada syndrome associated with rib fractures: a case report

    Directory of Open Access Journals (Sweden)

    Wan Haijun

    2010-10-01

    Full Text Available Abstract Background Cronkhite-Canada syndrome (CCS is a rare multiple gastrointestinal polyposis. Up till now, many complications of CCS have been reported in the literature, but rib fracture is not included. Case Presentation We report a case of a 58-year-old man who was admitted to our hospital with a 6-month history of frequent diarrhea, intermittent hematochezia and a weight