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Sample records for therapy-related myeloid neoplasms

  1. Preleukaemic clonal haemopoiesis and risk of therapy-related myeloid neoplasms: a case-control study.

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    Takahashi, Koichi; Wang, Feng; Kantarjian, Hagop; Doss, Denaha; Khanna, Kanhav; Thompson, Erika; Zhao, Li; Patel, Keyur; Neelapu, Sattva; Gumbs, Curtis; Bueso-Ramos, Carlos; DiNardo, Courtney D; Colla, Simona; Ravandi, Farhad; Zhang, Jianhua; Huang, Xuelin; Wu, Xifeng; Samaniego, Felipe; Garcia-Manero, Guillermo; Futreal, P Andrew

    2017-01-01

    Therapy-related myeloid neoplasms are secondary malignancies that are often fatal, but their risk factors are not well understood. Evidence suggests that individuals with clonal haemopoiesis have increased risk of developing haematological malignancies. We aimed to identify whether patients with cancer who have clonal haemopoiesis are at an increased risk of developing therapy-related myeloid neoplasms. We did this retrospective case-control study to compare the prevalence of clonal haemopoiesis between patients treated for cancer who later developed therapy-related myeloid neoplasms (cases) and patients who did not develop these neoplasms (controls). All patients in both case and control groups were treated at MD Anderson Cancer Center (Houston, TX, USA) from 1997 to 2015. We used the institutional medical database to locate these patients. Patients were included as cases if they were treated for a primary cancer, subsequently developed therapy-related myeloid neoplasms, and had available paired samples of bone marrow from the time of therapy-related myeloid neoplasm diagnosis and peripheral blood from the time of primary cancer diagnosis. Patients were eligible for inclusion as age-matched controls if they were treated for lymphoma, received combination chemotherapy, and did not develop therapy-related myeloid neoplasms after at least 5 years of follow-up. We used molecular barcode sequencing of 32 genes on the pretreatment peripheral blood samples to detect clonal haemopoiesis. For cases, we also used targeted gene sequencing on bone marrow samples and investigated clonal evolution from clonal haemopoiesis to the development of therapy-related myeloid neoplasms. To further clarify the association between clonal haemopoiesis and therapy-related myeloid neoplasm development, we also analysed the prevalence of clonal haemopoiesis in an external cohort of patients with lymphoma who were treated in a randomised trial of front-line chemotherapy with cyclophosphamide

  2. Therapy-related myeloid neoplasms as a concerning complication in acute promyelocytic leukemia

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    María del Carmen Vicente-Ayuso

    2017-09-01

    Full Text Available Acute promyelocytic leukemia (APL has become a highly curable malignant disease after the introduction of all transretinoic acid (ATRA to chemotherapy treatment. However, the risk to develop therapy-related myeloid neoplasms (t-MN has become a matter of concern, as APL patients are otherwise expected to have a good prognosis. We report a patient with APL who achieved complete remission after chemotherapy induction with anthracycline and ATRA, followed by consolidation and maintenance chemotherapy. Two years later, the patient developed t-AML, with MLL rearrangements, without any evidence of relapse of the APL original clone. The increasing incidence of t-MN in oncohematological patients is partly due to the development of safer, more efficient or targeted therapies, which allow better outcomes and lengthened survival amongst treated patients. The identification of genetic factors, mechanisms or prognostic biomarkers in t-MN might open new windows for the development of personalized targeted therapy regimes in this underserved patient population.

  3. Myeloid Neoplasms.

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    Subtil, Antonio

    2017-09-01

    The classification of myeloid neoplasms has undergone major changes and currently relies heavily on genetic abnormalities. Cutaneous manifestations of myeloid neoplasms may be the presenting sign of underlying bone marrow disease. Dermal infiltration by neoplastic cells may occur in otherwise normal skin or in sites of cutaneous inflammation. Leukemia cutis occasionally precedes evidence of blood and/or bone marrow involvement (aleukemic leukemia cutis). Copyright © 2017 Elsevier Inc. All rights reserved.

  4. NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression.

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    Burillo-Sanz, S; Morales-Camacho, R M; Caballero-Velázquez, T; Vargas, M T; García-Lozano, J R; Falantes, J F; Prats-Martín, C; Bernal, R; Pérez-Simón, J A

    2016-02-01

    Chromosomal rearrangements involving NUP98 gene have been associated with human leukemias such as de novo AML, therapy-related AML (t-AML), myelodysplastic syndrome (MDS), and chronic myeloid leukemia (CML). Genetic fusion NUP98-HOXA9, caused by t(7;11)(p15;p15), is a recurrent cytogenetic alteration in de novo acute myeloid leukemia (AML) usually found in young Asian patients and its description in therapy-related myeloid neoplasms (t-MN) is rare. Only one Asian case with molecular demonstration of the NUP98-HOXA9 fusion has been reported in therapy-related leukemia. NUP98-HOXA9 leukemogenic mechanism is derived from the transcription factor activity of the chimeric protein, which enhances the expression of genes related to cellular differentiation arrest and proliferation. We studied a Caucasian woman with a therapy-related acute myeloid leukemia after Ewing's sarcoma. Molecular demonstration of the genetic fusion NUP98-HOXA9 was performed by RT-PCR, and gene expression was analyzed by real-time PCR, including four AML patients with MLL rearrangements for comparative analysis. Cytologic and flow cytometric analysis was also carried out. After cytologic and flow cytometric analysis diagnostics was therapy-related myeloid neoplasm (t-MN). The major component of blasts in the acute leukemia was with neutrophilic differentiation, but 13% erythroid lineage blasts were also found. Cytogenetic and FISH analysis revealed t(7;11)(p15;p15) and NUP98-HOXA9 fusion gene was demonstrated. Gene expression analysis showed upregulation of EVI1 and MEIS1 in the index patient, both of them previously related to a worst outcome. In this work, we include a detailed molecular, clinical, cytological, and cytometric study of the second t-AML bearing NUP98-HOXA9 genetic fusion. © 2015 John Wiley & Sons Ltd.

  5. Dismal outcome of therapy-related myeloid neoplasm associated with complex aberrant karyotypes and monosomal karyotype: a case report.

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    Tang, Y L; Chia, W K; Yap, E C S W; Julia, M I; Leong, C F; Salwati, S; Wong, C L

    2016-12-01

    Individuals who are exposed to cytotoxic agents are at risk of developing therapyrelated myeloid neoplasms (t-MN). Cytogenetic findings of a neoplasm play an important role in stratifying patients into different risk groups and thus predict the response to treatment and overall survival. A 59-year-old man was diagnosed with acute promyelocytic leukaemia. Following this, he underwent all-trans retinoic acid (ATRA) based chemotherapy and achieved remission. Four years later, the disease relapsed and he was given idarubicin, mitoxantrone and ATRA followed by maintenance chemotherapy (ATRA, mercaptopurine and methotrexate). He achieved a second remission for the next 11 years. During a follow-up later, his full blood picture showed leucocytosis, anaemia and leucoerythroblastic picture. Bone marrow examination showed hypercellular marrow with trilineage dysplasia, 3% blasts but no abnormal promyelocyte. Fluorescence in-situ hybridisation (FISH) study of the PML/RARA gene was negative. Karyotyping result revealed complex abnormalities and monosomal karyotype (MK). A diagnosis of therapy-related myelodysplastic syndrome/myeloproliferative neoplasm with unfavourable karyotypes and MK was made. The disease progressed rapidly and transformed into therapy-related acute myeloid leukaemia in less than four months, complicated with severe pneumonia. Despite aggressive treatment with antibiotics and chemotherapy, the patient succumbed to the illness two weeks after the diagnosis. Diagnosis of t-MN should be suspected in patients with a history of receiving cytotoxic agents. Karyotyping analysis is crucial for risk stratification as MK in addition to complex aberrant karyotypes predicts unfavourable outcome. Further studies are required to address the optimal management for patients with t-MN.

  6. Therapy-related myeloid neoplasm in an 18-year-old boy with B-lymphoblastic leukemia.

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    Qing, Xin; Panosyan, Eduard; Yue, Changjun; Ji, Ping; Gotesman, Moran; French, Samuel; Cai, Junchao

    2017-12-01

    Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Acute myeloid leukemia or myelodysplastic syndrome during the course of ALL is a rare entity. Some of these cases are therapy-related while the others occur due to lineage switch. The correct diagnosis relies on comparing the immunophenotypes and cytogenetic/molecular alterations of the myeloid neoplasm and the ALL. We present the clinical, pathologic and cytogenetic features of a case of an 18-year-old male with prior treatment for B-lymphoblastic leukemia (B-ALL) who developed therapy-related myeloid neoplasm (t-MN) 4-5years after his initial diagnosis of B-ALL. A 13-year-old boy with no significant past medical history presented to Harbor-UCLA Medical Center (HUMC) in November 2012 with night sweats, fevers and chills, nausea, vomiting, diarrhea, fatigue, weakness, and weight loss. Peripheral blood flow cytometric analysis disclosed B-ALL. The blasts expressed CD10, CD19, CD22 (dim), CD34, CD38, HLA-DR, and TdT, and were negative for CD20, CD13, CD33, CD117, and cytoplasmic MPO. Chromosomal analysis and a supplemental fluorescence in situ hybridization (FISH) study performed on the bone marrow aspirate showed an abnormal karyotype (47,XY,+X,del(9)(p21p21)[4]/46,XY[16]). He achieved remission after induction chemotherapy and remained in remission until March 2016 when bilateral testicular masses were noted. Biopsy of the left testicular mass showed relapsed B-ALL. Cerebrospinal fluid (CSF) contained rare TdT-positive blasts, suggestive of minimal/early involvement by B-ALL. However, there was no evidence of acute leukemia in his bone marrow at this time. He was then treated with COG protocol AALL1331 randomized to blinatumomab arm and achieved second remission. In June 2017, the patient's peripheral blood smear showed 11% circulating monoblasts. By flow cytometry, the blasts expressed CD4, CD11b, CD13, CD15, CD33, CD38, CD56, and CD64. In addition, a few TdT-positive blasts were seen in

  7. Use of 5-azacitidine for therapy-related myeloid neoplasms in patients with concomitant active neoplastic disease.

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    Annereau, M; Willekens, C; El Halabi, L; Chahine, C; Saada, V; Auger, N; Danu, A; Bermudez, E; Lazarovici, J; Ghez, D; Leary, A; Pistilli, B; Lemare, F; Solary, E; de Botton, S; Desmaris, R-P; Micol, J-B

    2017-04-01

    Patients diagnosed with therapy-related myeloid neoplasms (TRMN) with concomitant active neoplastic disorder (CAND) are usually proposed for best supportive care (BSC). We evaluated the feasibility of using 5-azacytidine (AZA) in this setting. All patients referred to Gustave Roussy between 2010 and 2015 for TRMN diagnosis (less than 30% blast) and eligible for AZA treatment were included. Patients with CAND proposed for BSC were also described. Patient's outcomes were analyzed based on the presence or not of a CAND. Fifty-two patients with TRMN were analyzed, including 19 patients with CAND (14 eligible for AZA) and 33 without CAND eligible for AZA. The 5 patients with CAND ineligible for AZA had a worst performance status (p=0.016) at diagnosis and a shorter overall survival (OS) (0.62 months). Baseline characteristics of patients eligible for AZA were similar in the 2 groups except a trend for best performance status in patients with CAND (p=0.06). Overall response rate (71.4% vs 60.3%), transfusion independence (50.0% vs 45.5%) and OS (12.7 months vs 10.8 months) were similar between patients with and without CAND respectively (p=ns). Here we report the feasibility and efficacy of AZA for selected patients with TRMN and a CAND. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. THERAPY-RELATED MYELOID NEOPLASMS IN CHRONIC LYMPHOCYTIC LEUKEMIA AND WALDENSTROM MICROGLOBULINEMIA

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    Francesca Ricci

    2011-07-01

    Full Text Available Secondary myelodisplasia (MDS and acute myeloide leukaemia (AML are frequent long term complications in Chronic Lymphocytic Leukemia (CLL and Waldesntrom Macroglobulinemia (WM patients. Although disease-related immune-suppression plays a crucial role in leukemogenesis there is great concern that therapy may further increase the risk of developing these devastating complications. Nucleoside analogs (NA and alkilator agents are considered appropriate agents in the treatment of both CLL and WM patients. Prolonged immunosuppression related to nucleoside analogs therapy and the incorporation of these agents or their metabolites into DNA, with potentially mutagenic action, leads to speculation that their therapeutic use might be responsible for an increased incidence of second cancer especially when combined with other DNA damaging agents like alkylators. In this review the published studies considering the occurrence of secondary MDS and AML in CLL and WM patients are reported and the potential role of chemotherapeutic agents in leukemogenesis is discussed.

  9. EPIDEMIOLOGY OF THERAPY-RELATED MYELOID NEOPLASMS IN THE NORDIC COUNTRIES

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    Kjeld Schmiegelow

    2011-05-01

    Full Text Available Of 1614 Nordic children with ALL that were treated according to the NOPHO ALL92 protocol, 20 developed an SMN (cumulative risk at 12 years: 1.6%. Sixteen of the twenty SMNs were acute myeloid leukemias or myelodysplasias, and 9 of these had either monosomy 7 (n=7 or 7q deletions (n=2. In Cox multivariate analysis longer duration of oral MTX/6MP maintenance therapy (p=0.02; being longest for standard risk patients and presence of high-hyperdiploidy (p=0.07 were related to an increased risk of SMN. In 524 patients we determined the erythrocyte activity of thiopurine methyltransferase (TPMT, which methylates 6MP and its metabolites, and thus reduces cellular levels of cytotoxic 6-thioguanine nucleotides. The TPMT activity was significantly lower in those that did compared to those that did not develop an SMN (Median: 12.1 vs 18.1 IU/ml; p=0.02. Among 427 TPMT wild type patients, those who developed SMN received higher 6MP doses than the remaining (69.7 vs 60.4 mg/m2, p=0.03, which may reflect increased levels of methylated metabolites that inhibit purine de novo synthesis and thus enhance incorporation of 6-thioguanine nucleotides into DNA. In conclusion, the duration and intensity of 6MP/MTX maintenance therapy of childhood ALL may influence the risk of SMN.

  10. THERAPY-RELATED MYELOID NEOPLASMS IN PATIENTS TREATED FOR HODGKIN LYMPHOMA

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    Dennis A Eichenauer

    2011-10-01

    Full Text Available Hodgkin lymphoma (HL is a malignancy of the lymphatic system with an incidence of 2-3/100.000/year in developed countries. With modern multi-agent chemotherapy protocols optionally combined with radiotherapy (RT, 80% to 90% of HL patients achieve long-term remission and can be considered cured. However, current standard approaches bear a considerable risk for the development of treatment-related late effects. Thus, one major focus of current clinical research in HL is reducing the incidence of these late effects that include heart failure, infertility, chronic fatigue and secondary malignancies such as secondary myelodysplastic syndrome and acute myeloid leukemia (secondary MDS/AML. In previous analyses, secondary MDS/AML after treatment for HL was associated with a poor prognosis. Nearly all patients died rapidly after diagnosis. However, more recent analyses indicated an improved outcome among patients with secondary MDS/AML who are eligible for modern anti-leukemic treatment and allogeneic stem cell transplantation (aSCT. This article gives an overview of recent reports on the incidence and the treatment of secondary MDS/AML after HL treatment and describes the efforts currently made to reduce the risk to develop this severe late effect.

  11. THERAPY-RELATED MYELOID NEOPLASMS IN CHRONIC LYMPHOCYTIC LEUKEMIA AND WALDENSTROM MICROGLOBULINEMIA

    Directory of Open Access Journals (Sweden)

    Alessandra Tedeschi

    2011-01-01

    Full Text Available

    Secondary myelodisplasia (MDS and acute myeloide leukaemia (AML are frequent long term complications in Chronic Lymphocytic Leukemia (CLL and Waldesntrom Macroglobulinemia (WM patients. Although disease-related immune-suppression plays a crucial role in leukemogenesis there is great concern that therapy may further increase the risk of developing these devastating complications.

    Nucleoside analogs (NA and alkilator agents are considered appropriate agents in the treatment of both CLL and WM patients. Prolonged immunosuppression related to nucleoside analogs therapy and the incorporation of these agents or their metabolites into DNA, with potentially mutagenic action, leads to speculation that their therapeutic use might be responsible for an increased incidence of second cancer especially when combined with other DNA damaging agents like alkylators. In this review the published studies considering the occurrence of secondary MDS and AML in CLL and WM patients are reported and the potential role of chemotherapeutic agents in leukemogenesis is discussed.

  12. Myeloid neoplasms secondary to plasma cell myeloma: an intrinsic predisposition or therapy-related phenomenon? A clinicopathologic study of 41 cases and correlation of cytogenetic features with treatment regimens.

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    Reddi, Deepti M; Lu, Chuanyi M; Fedoriw, George; Liu, Yen-Chun; Wang, Frances F; Ely, Scott; Boswell, Elizabeth L; Louissaint, Abner; Arcasoy, Murat O; Goodman, Barbara K; Wang, Endi

    2012-12-01

    We describe 41 cases of myeloid neoplasms (MNs) secondary to plasma cell myeloma (PCM). The types of MN included myelodysplastic syndrome (MDS) in 34 (82.9%), acute myeloid leukemia (AML) in 4 (9.8%), and myeloproliferative neoplasm (MPN) or MDS/MPN in 3 (7.3%) cases. The latency from treatment to diagnosis of MN ranged from 9 to 384 months, with a median of 60 months. Of 37 cases with cytogenetic studies, complex abnormalities were detected in 22 (59.5%), -5(q)/-7(q) in 4 (10.8%), other abnormalities in 8 (21.6%), and normal karyotype in 3 (8.1%) cases. Complex abnormalities and -5(q)/-7(q) correlated directly with multiple chemotherapeutic regimens, particularly with combined melphalan/cyclophosphamide. Moreover, the features of cytogenetic abnormalities in our series were significantly different from those with concomitant PCM/MN who had significantly lower complex abnormalities. The latency, skewed proportion of MDS, and bias toward complex cytogenetic abnormalities/unbalanced aberrations of chromosomes 5/7 suggested an alkylating mutagenic effect on pathogenesis of secondary MN. Kaplan-Meier survival analysis demonstrated a median survival of 19 months, which was better than that for therapy-related (t)-MDS/AML. In contrast to t-MDS, the survival in our patients appeared to depend on subtypes of MDS as seen in de novo diseases.

  13. Molecular Pathology: Prognostic and Diagnostic Genomic Markers for Myeloid Neoplasms.

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    Kuo, Frank C

    2016-09-01

    Application of next-generation sequencing (NGS) on myeloid neoplasms has expanded our knowledge of genomic alterations in this group of diseases. Genomic alterations in myeloid neoplasms are complex, heterogeneous, and not specific to a disease entity. NGS-based panel testing of myeloid neoplasms can complement existing diagnostic modalities and is gaining acceptance in the clinics and diagnostic laboratories. Prospective, randomized trials to evaluate the prognostic significance of genomic markers in myeloid neoplasms are under way in academic medical centers. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Outcomes following splenectomy in patients with myeloid neoplasms.

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    Rialon, Kristy L; Speicher, Paul J; Ceppa, Eugene P; Rendell, Victoria R; Vaslef, Steven N; Beaven, Anne; Tyler, Douglas S; Blazer, Dan G

    2015-03-15

    Myeloid neoplasms are classified into five major categories. These patients may develop splenomegaly and require splenectomy to alleviate mechanical symptoms, to ameliorate transfusion-dependent cytopenias, or to enhance stem cell transplantation. The objective of this study was to determine which clinical variables significantly impacted morbidity, mortality, and survival in patients with myeloid neoplasms undergoing splenectomy, and to determine if operative outcomes have improved over time. The records of all patients with myeloid neoplasms undergoing splenectomy from 1993 to 2010 were retrospectively reviewed. Eighty-nine patients (n = 89) underwent splenectomy for myeloid neoplasms. Over half of patients who had symptoms preoperatively had resolution of their symptoms post-splenectomy. The morbidity rate was 38%, with the most common complications being bleeding (14%) or infection (20%). Thirty-day mortality rate was 18% and median survival after splenectomy was 278 days. Decreased survival was associated with a diagnosis of myelodysplastic syndrome/myeloproliferative neoplasm, anemia, abnormal white blood cell count, and hypoalbuminemia. Patients who underwent stem cell transplantation did not show an increased risk for morbidity or mortality. Patients with myeloid neoplasms have a poor prognosis after splenectomy and the decision to operate is a difficult one, associated with high morbidity and mortality. © 2014 Wiley Periodicals, Inc.

  15. Myeloid neoplasms in the World Health Organization 2016 classification.

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    Asou, Norio

    In the 2016 revision of the World Health Organization (WHO) classification, the categories of myeloid neoplasms have not been revised significantly from the 2008 fourth edition. However, recent discovery of molecular abnormalities provides a new perspective regarding the diagnostic and prognostic markers. In myeloproliferative neoplasms, the identification of CALR gene mutation, in addition to the JAK2 and MPL mutations, has impacted the diagnostic criteria. In myelodysplastic syndromes and acute myeloid leukemia, in addition to alterations in the transcription factors and signal transduction pathways, discovery of gene mutations in the epigenetic regulators that are involved in DNA methylation, histone modification, cohesin complex, and RNA splicing, by comprehensive genetic analyses, has improved our understanding of the pathobiology of these diseases. Moreover, recent large-scale sequencing studies have revealed the acquisition of clonal somatic mutations, in the myeloid neoplasm-associated genes of the hematopoietic cells. Such mutations were detected in people with normal blood cell counts, without any apparent disease. Presence of these mutations confers an increased risk for subsequent hematological neoplasms, indicating the concept of clonal hematopoiesis of indeterminate potential. This updated WHO classification incorporates the criteria of new clinical, prognostic, morphologic, immunophenotypic, and genetic findings in myeloid neoplasms.

  16. Risk of myeloid neoplasms after solid organ transplantation

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    Morton, Lindsay M.; Gibson, Todd M.; Clarke, Christina A.; Lynch, Charles F.; Anderson, Lesley A.; Pfeiffer, Ruth; Landgren, Ola; Weisenburger, Dennis D.; Engels, Eric A.

    2014-01-01

    Solid organ transplant recipients have elevated cancer risks, due in part to pharmacologic immunosuppression. However, little is known about risks for hematologic malignancies of myeloid origin. We linked the US Scientific Registry of Transplant Recipients with 15 population-based cancer registries to ascertain cancer occurrence among 207,859 solid organ transplants (1987–2009). Solid organ transplant recipients had significantly elevated risk for myeloid neoplasms, with standardized incidence ratios (SIRs) of 4.6 (95% confidence interval 3.8–5.6; N=101) for myelodysplastic syndromes (MDS), 2.7 (2.2–3.2; N=125) for acute myeloid leukemia (AML), 2.3 (1.6–3.2; N=36) for chronic myeloid leukemia, and 7.2 (5.4–9.3; N=57) for polycythemia vera. SIRs were highest among younger individuals and varied by time since transplantation and organ type (Poisson regression Pneoplasms after solid organ transplantation supports a role for immune dysfunction in myeloid neoplasm etiology. The increased risks and inferior survival should heighten clinician awareness of myeloid neoplasms during follow-up of transplant recipients. PMID:24727673

  17. Genetics of therapy-related myelodysplasia and acute myeloid leukemia

    DEFF Research Database (Denmark)

    Pedersen-Bjergaard, J.; Andersen, Mette Klarskov; Andersen, M.T.

    2008-01-01

    Myelodysplasia (MDS) and acute myeloid leukemia (AML) are heterogeneous, closely associated diseases arising de novo or following chemotherapy with alkylating agents, topoisomerase II inhibitors, or after radiotherapy. Whereas de novo MDS and AML are almost always subclassified according to cytog......Myelodysplasia (MDS) and acute myeloid leukemia (AML) are heterogeneous, closely associated diseases arising de novo or following chemotherapy with alkylating agents, topoisomerase II inhibitors, or after radiotherapy. Whereas de novo MDS and AML are almost always subclassified according...

  18. Therapy related Acute Myeloid Leukaemia 8 Years after Treatment ...

    African Journals Online (AJOL)

    Hodgkin's Disease (HD) is a curable malignancy even in Nigeria, our limitations in health care delivery notwithstanding. However, secondary malignancies especially Acute Myeloid Leukaemia (AML) may occur as late complications following alkylating cytotoxic drugs therapy, with or without radiotherapy. This is a case ...

  19. Alcohol consumption and risk of lymphoid and myeloid neoplasms: Results of the Netherlands cohort study

    NARCIS (Netherlands)

    Heinen, M.M.; Verhage, B.A.J.; Schouten, L.J.; Goldbohm, R.A.; Schouten, H.C.; Brandt, P.A. van den

    2013-01-01

    Results from epidemiological studies suggest that alcohol drinkers have a decreased risk of lymphoid neoplasms, whereas results for myeloid neoplasms are inconsistent. However, most of these studies have used retrospective data. We examined prospectively whether alcohol consumption decreases the

  20. NPM1 mutations in therapy-related acute myeloid leukemia with uncharacteristic features

    DEFF Research Database (Denmark)

    Andersen, Morten Tolstrup; Andersen, Mette Klarskov; Christiansen, D.H.

    2008-01-01

    Frameshift mutations of the nucleophosmin gene (NPM1) were recently reported as a frequently occurring abnormality in patients with de novo acute myeloid leukemia (AML). To evaluate the frequency of NPM1 mutations in patients with therapy-related myelodysplasia (t-MDS) and therapy-related AML (t......-/-7, the most frequent abnormalities of t-MDS/t-AML, were not observed (P=0.002). This raises the question whether some of the cases presenting NPM1 mutations were in fact cases of de novo leukemia. The close association to class I mutations and the inverse association to class II mutations suggest...

  1. The World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues: an overview with emphasis on the myeloid neoplasms.

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    Vardiman, James W

    2010-03-19

    The World Health Organization (WHO) classification of myeloid and lymphoid neoplasms utilizes morphology, immunophenotype, genetics and clinical features to define disease entities of clinical significance. It is a consensus classification in which a number of experts have agreed on the classification and diagnostic criteria. In general, the classification stratifies neoplasms according to their lineage (myeloid, lymphoid, histiocytic/dendritic) and distinguishes neoplasms of precursor cells from those comprised of functionally mature cells. Lymphoid neoplasms are derived from cells that frequently have features that recapitulate stages of normal B-, T-, and NK-cell differentiation and function, so to some extent they can be classified according to the corresponding normal counterpart, although additional features, such as genotype, clinical features and even location of the tumor figure into the final classification listing as well. Five major subgroups of myeloid neoplasms are recognized based mainly on their degree of maturation and biologic properties: myeloproliferative neoplasms (MPNs) which are comprised primarily of mature cells with effective proliferation; myeloid (and lymphoid) neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB and FGFR1, defined largely by the finding of significant eosinophilia and specific genetic abnormalities; myelodysplastic/myeloproliferative neoplasms (MDS/MPN), comprised mainly of mature cells with both effective and ineffective proliferation of various lineages; myelodysplastic syndromes (MDS), in which immature and mature cells are found with abnormal, dysplastic and ineffective maturation, and acute myeloid leukemia (AML), comprised of precursor cells with impaired maturation. Genetic abnormalities play an important role as diagnostic criteria for further sub-classification of some myeloid neoplasms, particularly of AML. Although therapy-related MDS and AML (t-MDS/AML) often have genetic defects identical to

  2. Genetically Modified T-cell Immunotherapy in Treating Patients With Relapsed/Refractory Acute Myeloid Leukemia and Persistent/Recurrent Blastic Plasmacytoid Dendritic Cell Neoplasm

    Science.gov (United States)

    2017-09-14

    Adult Acute Myeloid Leukemia in Remission; Donor; Early Relapse of Acute Myeloid Leukemia; Late Relapse of Acute Myeloid Leukemia; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Blastic Plasmacytoid Dendritic Cell Neoplasm

  3. Familial Myelodysplastic/Acute Leukemia Syndromes—Myeloid Neoplasms with Germline Predisposition

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    Baptista, Renata Lyrio Rafael; dos Santos, Anna Cláudia Evangelista; Gutiyama, Luciana Mayumi; Solza, Cristiana; Zalcberg, Ilana Renault

    2017-01-01

    Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identification and outline of the major known syndromes characteristics will be discussed in this text. PMID:28955657

  4. Familial Myelodysplastic/Acute Leukemia Syndromes—Myeloid Neoplasms with Germline Predisposition

    Directory of Open Access Journals (Sweden)

    Renata Lyrio Rafael Baptista

    2017-09-01

    Full Text Available Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identification and outline of the major known syndromes characteristics will be discussed in this text.

  5. Familial Myelodysplastic/Acute Leukemia Syndromes—Myeloid Neoplasms with Germline Predisposition

    OpenAIRE

    Baptista, Renata Lyrio Rafael; dos Santos, Anna Cláudia Evangelista; Gutiyama, Luciana Mayumi; Solza, Cristiana; Zalcberg, Ilana Renault

    2017-01-01

    Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identification and outline of the major known syndromes characteristics will be discussed in this text.

  6. Myeloid Neoplasms with Germline Predisposition: A New Provisional Entity Within the World Health Organization Classification.

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    Czuchlewski, David R; Peterson, LoAnn C

    2016-03-01

    The forthcoming update of the World Health Organization (WHO) classification of hematopoietic neoplasms will feature "Myeloid Neoplasms with Germline Predisposition" as a new provisional diagnostic entity. This designation will be applied to some cases of acute myeloid leukemia and myelodysplastic syndrome arising in the setting of constitutional mutations that render patients susceptible to the development of myeloid malignancies. For the diagnostic pathologist, recognizing these cases and confirming the diagnosis will demand a sophisticated grasp of clinical genetics and molecular techniques. This article presents a concise review of this new provisional WHO entity, including strategies for clinical practice. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Myeloid-derived suppressor cells in patients with myeloproliferative neoplasm.

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    Wang, Jen Chin; Kundra, Ajay; Andrei, Mirela; Baptiste, Stacey; Chen, Chi; Wong, Ching; Sindhu, Hemant

    2016-04-01

    Although BCR-ABL negative myeloproliferative neoplasms (MPN)--and especially myelofibrosis (MF)--are recognized to be associated with autoimmune phenomena, immune derangements in MPN have been much less studied. Myeloid-derived suppressor cells (MDSC) are one type of important immune modulator cell. Therefore, we studied MDSCs in MPN disease. MDSCs were studied in two cohorts: the first cohort was 55 patients including 16 primary myelofibrosis (PMF), 7 post-polycythemia vera (PV)-MF, 2 post-essential thrombocythemia (ET)-MF, 11 ET, 17 PV, 2 undefined MPN disorder, and 23 normal controls; the second cohort included 38 patients: 17 ET, 7 PMF, 3 ET-MF, 2 PV-MF, 9 PV patients, and 20 normal volunteers. The second cohort was studied using freshly collected specimens and a comparable age group as controls. CD11b(+), CD14(-), and CD33(+) cells were defined as MDSCs in both cohorts by flow cytometry. Since there are no differences in MDSC levels among different MPN categories, they were grouped as MPNs. The results showed that MDSCs were significantly elevated in MPNs compared with controls in both cohorts. We also performed RT-PCR and found that MPN patients have significantly elevated arginase-1 mRNA compared with controls, and sorted MDSCs were found to have suppressor T cell activity in MPNs, substantiating the hypothesis that levels of MDSCs are, in fact, deranged in MPNs. MDSC levels were not correlated with JAK2 status, white blood cells, Hb levels, platelet counts, splenomegaly, or the degree of bone marrow fibrosis (in MF). Further studies in immune therapy involving MDSC inhibitors or differentiation may be developed to treat MPN disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. The evolution of arsenic in the treatment of acute promyelocytic leukemia and other myeloid neoplasms

    Science.gov (United States)

    Falchi, Lorenzo; Verstovsek, Srdan; Ravandi-Kashani, Farhad; Kantarjian, Hagop

    2016-01-01

    The therapeutic potential of arsenic derivatives has long been recognized and was recently rediscovered in modern literature. Early studies demonstrated impressive activity of this compound in patients with relapsed acute promyelocytic leukemia (APL). Over the last 2 decades intravenous arsenic trioxide has been used successfully, both alone and in combination with other agents for the treatment of APL and, with some success, other myeloid neoplasms. Arsenic trioxide is currently part the standard of care for patients with APL. More recently, oral formulations of this compound have been developed and are entering clinical practice. This review will discuss the evolution of arsenic in the treatment of APL and other myeloid neoplasms. PMID:26716387

  9. Diagnostic and therapeutic implications of genetic heterogeneity in myeloid neoplasms uncovered by comprehensive mutational analysis

    Directory of Open Access Journals (Sweden)

    Sarah M. Choi

    2017-01-01

    Full Text Available While growing use of comprehensive mutational analysis has led to the discovery of innumerable genetic alterations associated with various myeloid neoplasms, the under-recognized phenomenon of genetic heterogeneity within such neoplasms creates a potential for diagnostic confusion. Here, we describe two cases where expanded mutational testing led to amendment of an initial diagnosis of chronic myelogenous leukemia with subsequent altered treatment of each patient. We demonstrate the power of comprehensive testing in ensuring appropriate classification of genetically heterogeneous neoplasms, and emphasize thoughtful analysis of molecular and genetic data as an essential component of diagnosis and management.

  10. Diagnostic and therapeutic implications of genetic heterogeneity in myeloid neoplasms uncovered by comprehensive mutational analysis.

    Science.gov (United States)

    Choi, Sarah M; Goldenson, Ben; Peterson, Lo Ann; Dinner, Shira; Stein, Brady L; Behdad, Amir

    2017-01-01

    While growing use of comprehensive mutational analysis has led to the discovery of innumerable genetic alterations associated with various myeloid neoplasms, the under-recognized phenomenon of genetic heterogeneity within such neoplasms creates a potential for diagnostic confusion. Here, we describe two cases where expanded mutational testing led to amendment of an initial diagnosis of chronic myelogenous leukemia with subsequent altered treatment of each patient. We demonstrate the power of comprehensive testing in ensuring appropriate classification of genetically heterogeneous neoplasms, and emphasize thoughtful analysis of molecular and genetic data as an essential component of diagnosis and management.

  11. Myeloid neoplasm with prominent eosinophilia and PDGFRA rearrangement treated with imatinib mesylate

    DEFF Research Database (Denmark)

    Rathe, Mathias; Kielsgaard Kristensen, Thomas; Møller, Michael Boe

    2010-01-01

    The FIP1L1-PDGFRA fusion gene is the most frequent genetic aberration in myeloid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1. Affected patients in adult populations are very sensitive to imatinib therapy. Pediatric cases are rare and so far only one case...

  12. Expression profiling of CD34+ hematopoietic stem/ progenitor cells reveals distinct subtypes of therapy-related acute myeloid leukemia

    OpenAIRE

    Qian, Zhijian; Fernald, Anthony A.; Godley, Lucy A.; Larson, Richard A.; Le Beau, Michelle M.

    2002-01-01

    One of the most serious consequences of cytotoxic cancer therapy is the development of therapy-related acute myeloid leukemia (t-AML), a neoplastic disorder arising from a multipotential hematopoietic stem cell. To gain insights into the molecular basis of this disease, we performed gene expression profiling of CD34+ hematopoietic progenitor cells from t-AML patients. Our analysis revealed that there are distinct subtypes of t-AML that have a characteristic gene expression pattern. Common to ...

  13. Ring chromosome in myeloid neoplasms is associated with complex karyotype and disease progression.

    Science.gov (United States)

    Rosenbaum, Matthew W; Pozdnyakova, Olga; Geyer, Julia T; Dal Cin, Paola; Hasserjian, Robert P

    2017-10-01

    Ring chromosome (RC) is a poorly understood genetic anomaly seen in myeloid neoplasms. This study aims to shed light on the clinical significance of this finding. We identified 96 cases of myeloid neoplasms with RC from 3 academic hospitals. Clinicopathologic features and overall (OS) and leukemia-free survival were reviewed and compared to cases of myeloid neoplasms lacking RC. We identified 59 acute myeloid leukemias (AML-RC) and 37 myelodysplastic syndromes (MDS-RC) with RC identified on routine karyotyping. Seventy-five percent of AML-RC and 97% of MDS-RC had complex (>3 independent cytogenetic abnormalities) karyotypes. The median OS of AML-RC with complex karyotype was significantly shorter than AML-RC patients with a non-complex (≤3 independent cytogenetic abnormalities) karyotype (P=.001), but similar to AML patients with complex karyotype lacking RC (P=not significant). Compared to complex-karyotype MDS lacking RC, MDS-RC patients had shorter leukemia-free survival (P=.016) and a trend for shorter OS (P=.10). RCs were sometimes lost after therapy or appeared during disease relapse, suggesting that they may be associated with genetic instability. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia

    National Research Council Canada - National Science Library

    McNerney, Megan E; Brown, Christopher D; Wang, Xiaoyue; Bartom, Elizabeth T; Karmakar, Subhradip; Bandlamudi, Chaitanya; Yu, Shan; Ko, Jinkyung; Sandall, Barry P; Stricker, Thomas; Anastasi, John; Grossman, Robert L; Cunningham, John M; Le Beau, Michelle M; White, Kevin P

    2013-01-01

    Loss of chromosome 7 and del(7q) [-7/del(7q)] are recurring cytogenetic abnormalities in hematologic malignancies, including acute myeloid leukemia and therapy-related myeloid neoplasms, and associated with an adverse prognosis...

  15. New classification of acute myeloid leukemia and precursor-related neoplasms: changes and unsolved issues.

    Science.gov (United States)

    Falini, Brunangelo; Tiacci, Enrico; Martelli, Maria Paola; Ascani, Stefano; Pileri, Stefano A

    2010-10-01

    The World Health Organization (WHO) classification of lympho-hematopoietic neoplasms is increasingly based on genetic criteria. Here, we focus on changes that, as compared to the 2001 edition, were introduced into the 2008 WHO classification of acute myeloid leukemia (AML) and related precursor neoplasms. The category of AML with recurrent genetic abnormalities was expanded to account for 60% of AML by adding three distinct entities, i.e., AML with t(6,9), inv(3), or t(1;22), and two provisional entities, i.e., AML with mutated NPM1 or CEBPA. These changes have greatly modified the approaches to diagnosis and prognostic stratification of AML patients. To emphasize the need of various parameters for diagnosis, including myelodysplasia (MD)-related cytogenetic abnormalities, history of myelodysplasia or myelodysplasia/myeloproliferative neoplasm, and multilineage dysplasia, the category of "AML with multilineage dysplasia" was re-named AML with MD-related changes. Finally, we describe the unique characteristics of myeloid proliferations associated with Down syndrome and blastic plasmacytoid dendritic cell neoplasm.

  16. Risk of myeloid neoplasms after radiotherapy among older women with localized breast cancer: A population-based study

    Science.gov (United States)

    Long, Jessica B.; Wang, Rong; Hu, Xin; Yu, James B.; Huntington, Scott F.; Abel, Gregory A.; Mougalian, Sarah S.; Podoltsev, Nikolai A.; Gore, Steven D.; Gross, Cary P.; Ma, Xiaomei; Davidoff, Amy J.

    2017-01-01

    Background There are inconsistent and limited data regarding the risk of myeloid neoplasms (MN) among breast cancer survivors who received radiotherapy (RT) in the absence of chemotherapy. Concern about subsequent MN might influence the decision to use adjuvant RT for women with localized disease. As patients with therapy-related MN have generally poor outcomes, the presumption of subsequent MN being therapy-related could affect treatment recommendations. Methods We used the Surveillance, Epidemiology, and End Results (SEER)–Medicare linked database to study older women with in-situ or stage 1–3 breast cancer diagnosed 2001–2009 who received surgery. Chemotherapy and RT were ascertained using Medicare claims, and new MN diagnoses were captured using both SEER registry and Medicare claims. We excluded women who received chemotherapy for initial treatment, and censored at receipt of subsequent chemotherapy. Competing-risk survival analysis was used to assess the association between RT and risk of subsequent MN adjusting for relevant characteristics. Results Median follow-up for 60,426 eligible patients was 68 months (interquartile range, 46 to 92 months), with 47.6% receiving RT. In total, 316 patients (0.52%) were diagnosed with MN; the cumulative incidence per 10,000 person-years was 10.6 vs 9.0 among RT-treated vs non-RT-treated women, respectively (p = .004); the increased risk of subsequent MN persisted in the adjusted analysis (hazard ratio = 1.36, 95% confidence interval: 1.03–1.80). The results were consistent in multiple sensitivity analyses. Conclusions Our data suggest that RT is associated with a significant risk of subsequent MN among older breast cancer survivors, though the absolute risk increase is very small. These findings suggest the benefits of RT outweigh the risks of development of subsequent MN. PMID:28902882

  17. Expression profiling of CD34+ hematopoietic stem/ progenitor cells reveals distinct subtypes of therapy-related acute myeloid leukemia.

    Science.gov (United States)

    Qian, Zhijian; Fernald, Anthony A; Godley, Lucy A; Larson, Richard A; Le Beau, Michelle M

    2002-11-12

    One of the most serious consequences of cytotoxic cancer therapy is the development of therapy-related acute myeloid leukemia (t-AML), a neoplastic disorder arising from a multipotential hematopoietic stem cell. To gain insights into the molecular basis of this disease, we performed gene expression profiling of CD34(+) hematopoietic progenitor cells from t-AML patients. Our analysis revealed that there are distinct subtypes of t-AML that have a characteristic gene expression pattern. Common to each of the subgroups are gene expression patterns typical of arrested differentiation in early progenitor cells. Leukemias with a -5/del(5q) have a higher expression of genes involved in cell cycle control (CCNA2, CCNE2, CDC2), checkpoints (BUB1), or growth (MYC), and loss of expression of the gene encoding IFN consensus sequence-binding protein (ICSBP). A second subgroup of t-AML is characterized by down-regulation of transcription factors involved in early hematopoiesis (TAL1, GATA1, and EKLF) and overexpression of proteins involved in signaling pathways in myeloid cells (FLT3) and cell survival (BCL2). Establishing the molecular pathways involved in t-AML may facilitate the identification of selectively expressed genes that can be exploited for the development of urgently needed targeted therapies.

  18. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.

    Science.gov (United States)

    Arber, Daniel A; Orazi, Attilio; Hasserjian, Robert; Thiele, Jürgen; Borowitz, Michael J; Le Beau, Michelle M; Bloomfield, Clara D; Cazzola, Mario; Vardiman, James W

    2016-05-19

    The World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues was last updated in 2008. Since then, there have been numerous advances in the identification of unique biomarkers associated with some myeloid neoplasms and acute leukemias, largely derived from gene expression analysis and next-generation sequencing that can significantly improve the diagnostic criteria as well as the prognostic relevance of entities currently included in the WHO classification and that also suggest new entities that should be added. Therefore, there is a clear need for a revision to the current classification. The revisions to the categories of myeloid neoplasms and acute leukemia will be published in a monograph in 2016 and reflect a consensus of opinion of hematopathologists, hematologists, oncologists, and geneticists. The 2016 edition represents a revision of the prior classification rather than an entirely new classification and attempts to incorporate new clinical, prognostic, morphologic, immunophenotypic, and genetic data that have emerged since the last edition. The major changes in the classification and their rationale are presented here. © 2016 by The American Society of Hematology.

  19. Epidemiology and Clinical Significance of Secondary and Therapy-Related Acute Myeloid Leukemia

    DEFF Research Database (Denmark)

    Granfeldt Østgård, Lene Sofie; Medeiros, Bruno C; Sengeløv, Henrik

    2015-01-01

    leukemia and myeloproliferative neoplasia) versus de novo AML. Limited to intensive therapy patients, we compared chance of complete remission by logistic regression analysis and used a pseudo-value approach to compare relative risk (RR) of death at 90 days, 1 year, and 3 years, overall and stratified.......23 to 1.76; patients ≥ 60 years old: 1-year adjusted RR, 1.31; 95% CI, 1.06 to 1.61). CONCLUSION: Our results support that de novo AML, sAML, and tAML are biologically and prognostically distinct subtypes of AML. Patients with non-MDS-sAML have dismal outcomes, independent of age and cytogenetics....... Previous myeloid disorder, age, and cytogenetics are crucial determinants of outcomes and should be integrated in treatment recommendations for these patients....

  20. Gene expression profiling to define the cell intrinsic role of the SKI proto-oncogene in hematopoiesis and myeloid neoplasms.

    Science.gov (United States)

    Chalk, Alistair M; Liddicoat, Brian J J; Walkley, Carl R; Singbrant, Sofie

    2014-12-01

    The proto-oncogene SKI is highly expressed in human myeloid leukemia and also in murine hematopoietic stem cells. However, its operative relevance in these cells remains elusive. We have over-expressed SKI to define its intrinsic role in hematopoiesis and myeloid neoplasms, which resulted in a robust competitive advantage upon transplantation, a complete dominance of the stem and progenitor compartments, and a marked enhancement of myeloid differentiation at the expense of other lineages. Accordingly, enforced expression of SKI induced gene signatures associated with hematopoietic stem cells and myeloid differentiation. Here we provide detailed experimental methods and analysis for the gene expression profiling described in our recently published study of Singbrant et al. (2014) in Haematologica. Our data sets (available at http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE39457) provide a resource for exploring the underlying molecular mechanisms of the involvement of the proto-oncogene SKI in hematopoietic stem cell function and development of myeloid neoplasms.

  1. Trisomy 14 as a Sole Chromosome Abnormality Is Associated with Older Age, a Heterogenous Group of Myeloid Neoplasms with Dysplasia, and a Wide Spectrum of Disease Progression

    Directory of Open Access Journals (Sweden)

    Wei Cui

    2010-01-01

    Full Text Available Trisomy 14 is a rare recurrent cytogenetic abnormality in myeloid neoplasms; however, its clinicopathologic features have not been well described. We report the clinicopathologic, immunophenotypic, and molecular genetic features of 16 cases of myeloid neoplasms with isolated trisomy 14. Our results show that cases with isolated trisomy 14 encompass a heterogenous group of myeloid neoplasms including myelodysplastic syndrome (MDS, 44%, myelodysplastic/myeloproliferative neoplasms (31%, and acute myeloid leukemia (25%. The patients are usually elder (median age 71 years, and there is a male predominance (82%. Multilineage dysplasia is noted in all cases. Oncogenic mutations of genes involved in cell proliferation and/or survival rarely occur. Compared with cases of MDS with diploid karyotype, patients of MDS with isolated trisomy 14 demonstrate a similar overall survival and rate of leukemia transformation.

  2. Therapy-related acute myeloid leukemia and myelodysplastic syndrome: a clinical and morphologic study of 65 cases.

    Science.gov (United States)

    Michels, S D; McKenna, R W; Arthur, D C; Brunning, R D

    1985-06-01

    This study consists of 65 patients (pts) who developed a myelodysplastic syndrome (MDS) (39 pts) or acute myeloid leukemia (AML) (26 pts) following chemotherapy and/or radiotherapy; the interval from the onset of therapy to bone marrow abnormality ranged from 11 to 192 months (median, 58). Thirty-three patients had been previously treated for lymphoproliferative diseases, 29 for carcinoma, and three for a nonneoplastic disorder. Approximately 30% of the cases presenting in the MDS phase evolved to AML in one to 12 months (median, 3.5). The AML in 49% of the cases was not readily classified according to French-American-British (FAB) criteria; the primary difficulty in classification related to the involvement of multiple cell lines. Among the cases that could be classified, all FAB types were represented except for M1; M2 was the most frequent type. Clonal chromosome abnormalities were found in marrow specimens from 22 of 24 (92%) patients studied with G banding; 11 had abnormalities of chromosomes 5 and/or 7. The median survival for all patients was four months with no significant difference between those treated and not treated with antileukemic therapy. The median survival was three months for the patients presenting with AML, six months for the patients with AML following an MDS, and four months for the patients with an MDS that did not evolve to AML. The findings in the present study suggest that there are three stages of therapy-related panmyelosis: (1) pancytopenia with associated myelodysplastic changes, (2) a frank MDS, and (3) overt AML. Many patients will present in the stage of overt AML that differs from de novo AML primarily by the high incidence of trilineage involvement, difficulty in classification, frequent cytogenetic abnormalities, and poor response to antileukemic therapy. The myelodysplastic phase, with or without evolution to acute leukemia, is a highly lethal disease with a median survival comparable to that of the patients who present with

  3. Therapy-related acute myeloid leukemia and myelodysplastic syndrome: a clinical and morphologic study of 65 cases

    Energy Technology Data Exchange (ETDEWEB)

    Michels, S.D.; McKenna, R.W.; Arthur, D.C.; Brunning, R.D.

    1985-06-01

    This study consists of 65 patients (pts) who developed a myelodysplastic syndrome (MDS) (39 pts) or acute myeloid leukemia (AML) (26 pts) following chemotherapy and/or radiotherapy; the interval from the onset of therapy to bone marrow abnormality ranged from 11 to 192 months (median, 58). Thirty-three patients had been previously treated for lymphoproliferative diseases, 29 for carcinoma, and three for a nonneoplastic disorder. Approximately 30% of the cases presenting in the MDS phase evolved to AML in one to 12 months (median, 3.5). The AML in 49% of the cases was not readily classified according to French-American-British (FAB) criteria; the primary difficulty in classification related to the involvement of multiple cell lines. Among the cases that could be classified, all FAB types were represented except for M1; M2 was the most frequent type. Clonal chromosome abnormalities were found in marrow specimens from 22 of 24 (92%) patients studied with G banding; 11 had abnormalities of chromosomes 5 and/or 7. The median survival for all patients was four months with no significant difference between those treated and not treated with antileukemic therapy. The median survival was three months for the patients presenting with AML, six months for the patients with AML following an MDS, and four months for the patients with an MDS that did not evolve to AML. The findings in the present study suggest that there are three stages of therapy-related panmyelosis: (1) pancytopenia with associated myelodysplastic changes, (2) a frank MDS, and (3) overt AML. Many patients will present in the stage of overt AML that differs from de novo AML primarily by the high incidence of trilineage involvement, difficulty in classification, frequent cytogenetic abnormalities, and poor response to antileukemic therapy.

  4. Practical Implications of the 2016 Revision of the World Health Organization Classification of Lymphoid and Myeloid Neoplasms and Acute Leukemia.

    Science.gov (United States)

    Leonard, John P; Martin, Peter; Roboz, Gail J

    2017-08-10

    A major revision of the WHO classification of lymphoid and myeloid neoplasms and acute leukemia was released in 2016. A key motivation for this update was to include new information available since the 2008 version with clinical relevance for the diagnosis, prognosis, and therapy of patients. With > 100 entities described, it is important for the clinician to understand features that may be important in daily practice, whereas researchers need to incorporate the new classification scheme into study development and analysis. In this review, we highlight the key aspects of the 2016 update with particular importance to routine patient care and clinical trial design.

  5. The co-presence of deletion 7q, 20q and inversion 16 in therapy-related acute myeloid leukemia developed secondary to treatment of breast cancer with cyclophosphamide, doxorubicin, and radiotherapy: a case report

    Directory of Open Access Journals (Sweden)

    Yonal Ipek

    2012-02-01

    Full Text Available Abstract Introduction Therapy-related acute myeloid leukemia occurs as a complication of treatment with chemotherapy, radiotherapy, immunosuppressive agents or exposure to environmental carcinogens. Case presentation We report a case of therapy-related acute myeloid leukemia in a 37-year-old Turkish woman in complete remission from breast cancer. Our patient presented to our facility with fatigue, fever, sore throat, peripheral lymphadenopathy, and moderate hepatosplenomegaly. On peripheral blood and bone marrow aspirate smears, monoblasts were present. Immunophenotypic analysis of the bone marrow showed expression of CD11b, CD13, CD14, CD15, CD33, CD34, CD45 and human leukocyte antigen-DR, findings compatible with the diagnosis of acute monoblastic leukemia (French-American-British classification M5a. Therapy-related acute myeloid leukemia developed three years after adjuvant chemotherapy consisting of an alkylating agent, cyclophosphamide and DNA topoisomerase II inhibitor, doxorubicin and adjuvant radiotherapy. Cytogenetic analysis revealed a 46, XX, deletion 7 (q22q34, deletion 20 (q11.2q13.1 karyotype in five out of 20 metaphases and inversion 16 was detected by fluorescence in situhybridization. There was no response to chemotherapy (cytarabine and idarubicin, FLAG-IDA protocol, azacitidine and our patient died in the 11th month after diagnosis. Conclusions The median survival in therapy-related acute myeloid leukemia is shorter compared to de novoacute myeloid leukemia. Also, the response to therapy is poor. In therapy-related acute myeloid leukemia, complex karyotypes have been associated with abnormalities of chromosome 5, rather than 7. To the best of our knowledge, this is the first case of therapy-related acute myeloid leukemia showing the co-presence of deletion 7q, 20q and the inversion 16 signal.

  6. Myeloid neoplasms with concurrent BCR-ABL1 and CBFB rearrangements: A series of 10 cases of a clinically aggressive neoplasm.

    Science.gov (United States)

    Salem, Alireza; Loghavi, Sanam; Tang, Guilin; Huh, Yang O; Jabbour, Elias J; Kantarjian, Hagop; Wang, Wei; Hu, Shimin; Luthra, Rajyalakshmi; Medeiros, L Jeffrey; Khoury, Joseph D

    2017-06-01

    Chronic myeloid leukemia (CML) is defined by the presence of t(9;22)(q34;q11.2)/BCR-ABL1. Additional chromosomal abnormalities confer an adverse prognosis and are particularly common in the blast phase of CML (CML-BP). CBFB rearrangement, particularly CBFB-MYH11 fusion resulting from inv(16)(p13.1q22) or t(16;16)(p13.1;q22), is an acute myeloid leukemia (AML)-defining alteration that is associated with a favorable outcome. The co-occurrence of BCR-ABL1 and CBFB rearrangement is extremely rare, and the significance of this finding remains unclear. We identified 10 patients with myeloid neoplasms harboring BCR-ABL1 and CBFB rearrangement. The study group included six men and four women with a median age of 51 years (range, 20-71 years). The sequence of molecular alterations could be determined in nine cases: BCR-ABL1 preceded CBFB rearrangement in seven, CBFB rearrangement preceded BCR-ABL1 in one, and both alterations were discovered simultaneously in one patient. BCR-ABL1 encoded for p210 kD in all cases in which BCR-ABL1 preceded CBFB rearrangement; a p190 kD was identified in the other three cases. Two patients were treated with the FLAG-IDA regimen (fludarabine, cytarabine, idarubicin, and G-CSF) and tyrosine kinase inhibitors (TKI); seven with other cytarabine-based regimens and TKIs, and one with ponatinib alone. At last follow up (median, 16 months; range 2-85), 7 of 10 patients had died. The co-existence of BCR-ABL1 and CBFB rearrangement is associated with poor outcome and a clinical course similar to that of CML-BP, and unlike de novo AML with CBFB rearrangement, suggesting that high-intensity chemotherapy with TKI should be considered in these patients. © 2017 Wiley Periodicals, Inc.

  7. Both SEPT2 and MLL are down-regulated in MLL-SEPT2 therapy-related myeloid neoplasia

    NARCIS (Netherlands)

    Cerveira, Nuno; Santos, Joana; Bizarro, Susana; Costa, Vera; Ribeiro, Franclim R.; Lisboa, Susana; Correia, Cecilia; Torres, Lurdes; Vieira, Joana; Snijder, Simone; Mariz, Jose M.; Norton, Lucilia; Mellink, Clemens H.; Buijs, Arjan; Teixeira, Manuel R.

    2009-01-01

    Background: A relevant role of septins in leukemogenesis has been uncovered by their involvement as fusion partners in MLL-related leukemia. Recently, we have established the MLL-SEPT2 gene fusion as the molecular abnormality subjacent to the translocation t(2;11)(q37;q23) in therapy-related acute

  8. A review of therapy-related myelodysplastic syndromes and acute myeloid leukaemia (t-MDS/AML) in Irish patients: a single centre experience.

    Science.gov (United States)

    Maung, Su W; Burke, Cathie; Hayde, Jennifer; Walshe, Janice; McDermott, Ray; Desmond, Ronan; McHugh, Johnny; Enright, Helen

    2017-07-01

    To demonstrate the incidence, characteristics, treatment and outcomes of patients with therapy-related myelodysplastic syndromes and therapy-related acute myeloid leukaemia (t-MDS/AML) in a tertiary referral centre. Patients meeting the diagnostic criteria for t-MDS/AML from 2003 to 2014 were reviewed to analyse their diagnostic features, details of antecedent disorder and treatment, approach to management and survival. 39 patients who developed t-MDS/AML were identified with incidence of 8.7%. Median age and gender distribution were similar to de novo MDS but t-MDS/AML patients had greater degree of cytopenia and adverse karyotypes. Time to development of t-MDS/AML was shortest for patients with antecedent haematological malignancy compared to solid tumours and autoimmune disorders (46, 85 and 109 months). Patients with prior acute leukaemia had the shortest latency and poor overall survival. Treatment options included best supportive care (56%), Azacitidine (31%) or intensive chemotherapy/allogeneic transplant (13%). Median OS of all patients was 14 months. Survival declined markedly after two years and 5-year OS was 13.8%. Longer survival was associated with blast count MDS/AML patients showed unique characteristics which influenced their treatment and outcomes. IPSS-R may be useful in risk-adapted treatment approaches and can predict outcomes. Survival remains poor but improved outcomes were seen with allogeneic transplantation. Azacitidine may be effective in patients unfit for intensive therapies.

  9. Red blood cell alloimmunization in 184 patients with myeloid neoplasms treated with azacitidine - A retrospective single center experience.

    Science.gov (United States)

    Leisch, M; Weiss, L; Lindlbauer, N; Jungbauer, C; Egle, A; Rohde, E; Greil, R; Grabmer, C; Pleyer, L

    2017-08-01

    Alloimmunization to Red Blood Cell (RBC) antigens frequently occurs in patients with myeloid neoplasms (AML, MDS and CMML) and potentially poses the patient at risk for delayed hemolytic transfusion reactions and limited supply of compatible RBC-units. However, there is comparatively little data on transfusion associated characteristics in this patient cohort. We therefore retrospectively analyzed transfusion requirements and clinical outcomes of 184 patients with myloid neoplasms treated with azacitidine at the Paracelsus Medical University Salzburg, which were included in the Austrian Registry of Hypomethylating Agents. The mean blood component requirements for AML, MDS and CMML were 39.8, 67.4 and 31.4 RBC units and 31.7, 27.6 and 19.1 platelet (PLT) units respectively. In spite of an extended and stringent RBC unit matching policy (ABO, RhD, RhCcEe and K antigens), 20 (11%) patients formed at least one alloantibody ("allo-group"), whereas 164 patients (89%) did not ("non-allo-group"). The most frequent antibody specificity was anti-E, followed by anti-Wra -Lua, -D, -C and -Jka. Alloimmunization was associated with higher numbers of transfused RBC units (68 vs. 38; p=0.001), as well as with longer time under transfusion (16.7 vs. 9.4 months; p=0.014). Median overall survival (OS) did not differ significantly between the "allo"- and "non-allo-group". Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  10. The evolution of arsenic in the treatment of acute promyelocytic leukemia and other myeloid neoplasms: Moving toward an effective oral, outpatient therapy.

    Science.gov (United States)

    Falchi, Lorenzo; Verstovsek, Srdan; Ravandi-Kashani, Farhad; Kantarjian, Hagop M

    2016-04-15

    The therapeutic potential of arsenic derivatives has long been recognized and was recently rediscovered in modern literature. Early studies demonstrated impressive activity of this compound in patients with relapsed acute promyelocytic leukemia (APL). Over the last 2 decades, intravenous arsenic trioxide has been used successfully, both alone and in combination with other agents, for the treatment of APL and, with some success, of other myeloid neoplasms. Arsenic trioxide is currently part the standard of care for patients with APL. More recently, oral formulations of this compound have been developed and are entering clinical practice. In this review, the authors discuss the evolution of arsenic in the treatment of APL and other myeloid neoplasms. © 2015 American Cancer Society.

  11. Gingival enlargement as an early diagnostic indicator in therapy-related acute myeloid leukemia: A rare case report and review of literature

    Directory of Open Access Journals (Sweden)

    Triveni M Gowda

    2013-01-01

    Full Text Available Treatment for Hodgkin′s lymphoma (HL has resulted in excellent survival rates but is associated with increased risks of secondary therapy-related acute myeloid leukemia (t-AML. Gingival enlargement associated with bleeding and ulceration is the most common rapidly appearing oral manifestations of leukemic involvement. An 8 months pregnant patient reported with generalized gingival enlargement, with localized cyanotic and necrotic papillary areas. Co-relating the hematological report with the oral lesions and her past medical history of HL, a diagnosis of t-AML secondary to treatment for HL was made by the oncologist. As oral lesions are one of the initial manifestations of acute leukemia, they may serve as a significant diagnostic indicator for the dental surgeons and their important role in diagnosing and treating such cases. Furthermore, this case report highlights the serious complication of t-AML subsequent to HL treatment and the important role that a general and oral health care professional may play in diagnosing and treating such cases.

  12. The uniqueness of morphological features of pure erythroid leukemia in myeloid neoplasm with erythroid predominance: A reassessment using criteria revised in the 2016 World Health Organization classification

    OpenAIRE

    Ko, Po-Shen; Liu, Yao-Chung; Yeh, Chiu-Mei; Gau, Jyh-Pyng; Yu, Yuan-Bin; Hsiao, Liang-Tsai; Tzeng, Cheng-Hwai; Chen, Po-Min; Chiou, Tzeon-Jye; Liu, Chia-Jen; Liu, Jin-Hwang

    2017-01-01

    We reviewed 97 consecutive cases of myeloid neoplasm with erythroid predominance (MN-EP) between 2000 and 2015. Following 2016 WHO classification, MN-EP patients were classified into four groups. Eight pure erythroid leukemia (PEL) (including t-MN and AML-MRC morphologically fulfilled criteria for PEL) patients had dismal outcomes (median OS: 1 month) and showed more bone marrow fibrosis, worse performance status (PS) and higher serum lactate dehydrogenase (LDH) at diagnosis than the other gr...

  13. Myeloid neoplasms with t(12;22)(p13;q12)/MN1-EVT6: a systematic review of 12 cases.

    Science.gov (United States)

    Shao, Haigang; Cen, Jiannong; Chen, Suning; Qiu, Huiying; Pan, Jinlan

    2018-03-01

    t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality involving the ETS transcription factor ETV6 and meningioma 1 (MN1) genes. In this study, we analyzed the clinical, cytogenetic, and molecular features of five new patients with the t(12;22)/MN1-EVT6 who presented with acute myeloid leukemia or chronic myelomonocytic leukemia. We subsequently reviewed the literature and identified seven additional cases reported with t(12;22)/MN1-EVT6. Our data suggest that neoplasms carrying the t(12;22)/MN1-ETV6, although rare, can commonly present as myeloid neoplasms at the initial diagnosis, including acute myeloid leukemia (n = 8), myelodysplastic syndrome (n = 2), and myelodysplastic/myeloproliferative neoplasms (n = 2). There were five men and seven women with a median age of 43 years (range, 15-63 years) at initial diagnosis. Cytogenetics revealed t(12;22) as the sole abnormality in five patients, with the remaining seven patients harboring additional chromosomal aberrations. Of the five patients who received known therapy regimens, all of them had poor response to the idarubicin/mitoxantrone + cytarabine regimen. Of the seven patients with follow-up information, six patients died with a median overall survival time of only 5 months (range, 1-12 months) after the emergence of t(12;22). In summary, patients with t(12;22) are frequently associated with myeloid neoplasms, poor response to chemotherapy, and inferior outcome.

  14. Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes.

    Science.gov (United States)

    Schwaab, Juliana; Knut, Marcin; Haferlach, Claudia; Metzgeroth, Georgia; Horny, Hans-Peter; Chase, Andrew; Tapper, William; Score, Joannah; Waghorn, Katherine; Naumann, Nicole; Jawhar, Mohamad; Fabarius, Alice; Hofmann, Wolf-Karsten; Cross, Nicholas C P; Reiter, Andreas

    2015-02-01

    Rearrangements of chromosome band 9p24 are known to be associated with JAK2 fusion genes, e.g., t(8;9)(p22;p24) with a PCM1-JAK2 and t(9;22)(p24;q11) with a BCR-JAK2 fusion gene, respectively. In association with myeloid neoplasms, the clinical course is aggressive, and in absence of effective conventional treatment options, long-term remission is usually only observed after allogeneic stem cell transplantation (ASCT). With the discovery of inhibitors of the JAK2 tyrosine kinase and based on encouraging in vitro and in vivo data, we treated two male patients with myeloid neoplasms and a PCM1-JAK2 or a BCR-JAK2 fusion gene, respectively, with the JAK1/JAK2 inhibitor ruxolitinib. After 12 months of treatment, both patients achieved a complete clinical, hematologic, and cytogenetic response. Non-hematologic toxicity was only grade 1 while no hematologic toxicity was observed. However, remission in both patients was only short-term, with relapse occurring after 18 and 24 months, respectively, making ASCT indispensable in both cases. This data highlight (1) the ongoing importance of cytogenetic analysis for the diagnostic work-up of myeloid neoplasms as it may guide targeted therapy and (2) remission under ruxolitinib may only be short-termed in JAK2 fusion genes but it may be an important bridging therapy prior to ASCT.

  15. Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia

    Science.gov (United States)

    Eghtedar, Alireza; Verstovsek, Srdan; Estrov, Zeev; Burger, Jan; Cortes, Jorge; Bivins, Carol; Faderl, Stefan; Ferrajoli, Alessandra; Borthakur, Gautam; George, Solly; Scherle, Peggy A.; Newton, Robert C.; Kantarjian, Hagop M.

    2012-01-01

    We conducted a phase 2 study of ruxolitinib in patients with relapsed/refractory leukemias. Patients with acceptable performance status (0-2), adequate organ function, and no active infection, received ruxolitinib 25 mg orally twice a day for 4 weeks (1 cycle). Response was assessed after every 2 cycles of treatment, and patients who completed 2 cycles were allowed to continue treatment until disease progression. Dose escalation to 50 mg twice daily was permitted in patients demonstrating a benefit. Thirty-eight patients, with a median age of 69 years (range, 45-88), were treated. The median number of prior therapies was 2 (range, 1-6). Twelve patients had JAK2V617F mutation. Patients received a median of 2 cycles of therapy (range, 1-22). Three of 18 patients with postmyeloproliferative neoplasm (MPN) acute myeloid leukemia (AML) showed a significant response; 2 achieved complete remission (CR) and one achieved a CR with insufficient recovery of blood counts (CRi). The responding patients with palpable spleens also had significant reductions in spleen size. Overall, ruxolitinib was very well tolerated with only 4 patients having grade 3 or higher toxicity. Ruxolitinib has modest antileukemic activity as a single agent, particularly in patients with post-MPN AML. The study was registered at www.clinicaltrials.gov as NCT00674479. PMID:22422826

  16. Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia.

    Science.gov (United States)

    Eghtedar, Alireza; Verstovsek, Srdan; Estrov, Zeev; Burger, Jan; Cortes, Jorge; Bivins, Carol; Faderl, Stefan; Ferrajoli, Alessandra; Borthakur, Gautam; George, Solly; Scherle, Peggy A; Newton, Robert C; Kantarjian, Hagop M; Ravandi, Farhad

    2012-05-17

    We conducted a phase 2 study of ruxolitinib in patients with relapsed/refractory leukemias. Patients with acceptable performance status (0-2), adequate organ function, and no active infection, received ruxolitinib 25 mg orally twice a day for 4 weeks (1 cycle). Response was assessed after every 2 cycles of treatment, and patients who completed 2 cycles were allowed to continue treatment until disease progression. Dose escalation to 50 mg twice daily was permitted in patients demonstrating a benefit. Thirty-eight patients, with a median age of 69 years (range, 45-88), were treated. The median number of prior therapies was 2 (range, 1-6). Twelve patients had JAK2V617F mutation. Patients received a median of 2 cycles of therapy (range, 1-22). Three of 18 patients with postmyeloproliferative neoplasm (MPN) acute myeloid leukemia (AML) showed a significant response; 2 achieved complete remission (CR) and one achieved a CR with insufficient recovery of blood counts (CRi). The responding patients with palpable spleens also had significant reductions in spleen size. Overall, ruxolitinib was very well tolerated with only 4 patients having grade 3 or higher toxicity. Ruxolitinib has modest antileukemic activity as a single agent, particularly in patients with post-MPN AML. The study was registered at www.clinicaltrials.gov as NCT00674479.

  17. A case of therapy-related acute myeloid leukemia with inv(16)(p13.1q22) after single low-dose iodine-131 treatment for thyroid cancer

    OpenAIRE

    Jeong, Ji Hun; Ahn, Jeong Yeal; Park, Soon Ho; Park, Mi Jung; Kim, Kyung Hee; Hong, Jun Shik

    2012-01-01

    Radioiodine is regularly used in the treatment of thyroid cancer to eliminate residual malignant tissue after thyroidectomy and to treat metastasis. Because of the low dose of radioiodine used to treat thyroid cancer patients, leukemia is an uncommon complication of exposure to radioiodine. Here, we present a patient who developed therapy-related acute myeloid leukemia with inv(16)(p13.1q22);CBFβ-MYH11, eosinophilia, and K-ras mutation and who had been treated with very low-dose radioiodine f...

  18. Dietary One-Carbon Nutrient Intake and Risk of Lymphoid and Myeloid Neoplasms: Results of the Netherlands Cohort Study

    NARCIS (Netherlands)

    Heinen, M.M.; Brandt, P.A. van den; Schouten, L.J.; Goldbohm, R.A.; Schouten, H.C.; Verhage, B.A.J.

    2014-01-01

    Background: Previous epidemiologic research suggests a protective role of one-carbon nutrients in carcinogenesis. Folate, however, may play a dual role in neoplasms development: protect early in carcinogenesis and promote carcinogenesis at a later stage. We prospectively examined associations

  19. A Paraneoplastic Syndrome Characterized by Extremity Swelling with Associated Inflammatory Infiltrate Heralds Aggressive Transformation of Myelodysplastic Syndromes/Myeloproliferative Neoplasms to Acute Myeloid Leukemia: A Case Series

    Directory of Open Access Journals (Sweden)

    James K. Mangan

    2012-01-01

    Full Text Available There has been a long history of reports describing a variety of paraneoplastic phenomena associated with myelodysplastic syndromes, particularly those with autoimmune manifestations. We report here a series of patients with an antecedent myelodysplastic syndrome (MDS or myeloproliferative neoplasm (MPN that underwent aggressive transformation to acute myeloid leukemia (AML. In each case, the transformation to AML was preceded by an inflammatory syndrome characterized by unilateral extremity swelling and an associated inflammatory skin infiltrate, as well as other signs of inflammation, including profound hyperferritinemia without evidence of a hemophagocytic syndrome. We suggest that such an inflammatory syndrome may herald aggressive transformation of MDS/MPN to AML. Patients with known MDS/MPN who present with these features may benefit from early bone marrow examination to assess disease status. Early intervention with corticosteroids in select patients may result in improvement or resolution of the symptoms and permit intensive therapy for AML to be delivered.

  20. Chronic eosinophilic leukemia, NOS with t(5;12(q31;p13/ETV6-ACSL6 gene fusion: A novel variant of myeloid proliferative neoplasm with eosinophilia

    Directory of Open Access Journals (Sweden)

    Ruijun Jeanna Su

    2016-09-01

    Full Text Available The 2008 World Health Organization (WHO classification of tumors of hematopoietic and lymphoid tissues introduced a category for myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. Many of these patients are responsive to tyrosine kinase inhibitor (TKI therapy. In this case report, we report a unique case of chronic eosinophilic leukemia with novel t(5;12(q23-31;p13/ETV6-ACSL6 gene fusion, in which patient was resistant to TKI therapy. This important finding is a novel addition to the above entity in WHO 2008 classification. The ACSL6 gene encodes a long-chain acyl-CoA synthetase, an enzyme that plays an essential role in lipid metabolism and ATP generation pathways in cells. The ETV6-ACSL6 rearrangement is present in diverse types of hematopoietic malignancies. As yet, it is not clear how ACSL6, a gene involved in fatty acid synthesis, contributes to clonal expansion of myeloid progenitor cells. Therefore, elucidating the contribution of ACSL6 to leukemogenesis may allow the development of novel treatment for those resistant to TKI therapy.

  1. Novel t(5;11)(q32;q13.4) with NUMA1-PDGFRB fusion in a myeloid neoplasm with eosinophilia with response to imatinib mesylate.

    Science.gov (United States)

    Zou, Ying S; Hoppman, Nicole L; Singh, Zeba N; Sawhney, Sameer; Kotiah, Sandy D; Baer, Maria R

    2017-04-01

    We report a NUMA1-PDGFRB fusion in a myeloproliferative neoplasm with eosinophilia in a 61-year old man, with response to imatinib mesylate therapy. A t(5;11) chromosome translocation involving bands 5q32 and 11q13.4 was identified by metaphase chromosome analysis, and rearrangement of the platelet-derived growth factor receptor beta (PDGFRB) gene on 5q32 was demonstrated by FISH using a PDGFRB break-apart probe set. Bacterial artificial chromosome (BAC) FISH mapping of the PDGFRB fusion partner gene narrowed the breakpoint at 11q13.4 to a 150 kb genomic region containing three genes, including NUMA1. Mate pair sequencing analysis demonstrated NUMA1-PDGFRB fusion. The fusion protein includes coiled-coil domains of nuclear mitotic apparatus protein 1 (NuMA1, involved in protein homodimerization and heteroassociation) and tyrosine kinase domains of PDGFRB. Diverse rearrangements involving the PDGFRB gene have been identified in myeloid and lymphoid neoplasms with eosinophilia, but rearrangement of the nuclear mitotic apparatus protein 1 (NUMA1) gene has previously been reported in a human malignancy in only one instance, a NUMA1-RARA fusion caused by a t(11;17) translocation in a patient with acute promyelocytic leukemia. The NUMA1-PDGFRB fusion is the second instance of rearrangement of NUMA1, encoding an element of the mitotic apparatus, in human cancer. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. A reevaluation of erythroid predominance in Acute Myeloid Leukemia using the updated WHO 2016 Criteria.

    Science.gov (United States)

    Margolskee, Elizabeth; Mikita, Geoff; Rea, Bryan; Bagg, Adam; Zuo, Zhuang; Sun, Yi; Goswami, Maitrayee; Wang, Sa A; Oak, Jean; Arber, Daniel A; Allen, M Brandon; George, Tracy I; Rogers, Heesun J; Hsi, Eric; Hasserjian, Robert P; Orazi, Attilio

    2018-02-05

    The 2016 WHO update changed the diagnostic criteria for myeloid neoplasms with erythroid predominance, limiting the diagnosis of acute myeloid leukemia to cases with ≥20% blasts in the bone marrow or peripheral blood. Although acute myeloid leukemia with ≥50% erythroid cells has historically been presumed to represent acute myeloid leukemia with myelodysplasia-related changes, this hypothesis has never been systematically examined. We sought to investigate the clinicopathologic, cytogenetic, and molecular features of acute myeloid leukemia with erythroid predominance to subclassify cases as defined by the 2016 WHO. We retrospectively identified patients with ≥50% erythroid precursors and either ≥20% bone marrow blasts or ≥20% peripheral blood blasts at the time of initial diagnosis at seven major academic centers. Laboratory and clinical data were obtained. Patients were then reclassified according to 2016 WHO guidelines. A matched control group was also obtained. We identified 146 patients with acute myeloid leukemia with erythroid predominance (62% M, average age: 62 y, range: 5-93 y). Of these, 91 were acute myeloid leukemia with myelodysplasia-related changes, 20 (14%) were therapy-related myeloid neoplasm, 23 (16%) acute myeloid leukemia, not otherwise specified, and ten acute myeloid leukemia with recurrent cytogenetic/molecular abnormalities. The bone marrow blast count ranged from 9-41%. There was no difference in survival for patients with erythroid predominance compared to patients with acute myeloid leukemia without erythroid proliferations. In a multivariable analysis, cytogenetic risk was the only significant predictor of survival. We find a significantly lower rate of FLT3 and RAS pathway alterations in acute myeloid leukemia with erythroid predominance compared to controls. Our study is one of the first to apply the 2016 WHO guidelines for classification of acute myeloid leukemia. We find acute myeloid leukemia with erythroid

  3. Therapy-related patterns of cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome post polycythemia vera: single center experience and review of literature.

    Science.gov (United States)

    Swolin, Birgitta; Rödjer, Stig; Westin, Jan

    2008-06-01

    A minor fraction of patients with polycythemia vera (PV) develop a terminal acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Analysis of the cytogenetic abnormalities during AML or MDS may help in understanding if this development is part of the natural course of the disease or induced by myelosuppressive therapy. Thirty-six cases with AML or MDS post PV, collected in a single Swedish institution during a 33-year period, are described with special regard to time to development of AML or MDS, therapy given during active PV, and cytogenetic findings during AML or MDS. A further 118 cases of AML or MDS post PV, in whom type of therapy during active PV and cytogenetic findings during AML or MDS were reported, were collected from the literature. AML or MDS developed in our own series after 1-30 years with a fairly constant rate (two cases per year). The most frequent cytogenetic abnormalities were +1q, -5, 5q-, -7, 7q-, +8, +9, 11q-, 13q-, and 20q-. When patients in the total material (n = 154) were divided with regard to treatment during active PV, marked differences were observed. The highest frequency of abnormalities was found in patients given multiple lines of therapy (n = 61), dominating features being -5/5q- in 28 patients (46%), -7/7q- in 19 patients (31%), numerous translocations in 24 patients (39%), and unidentified markers in 22 patients (36%). Half of the patients treated with hydroxyurea alone showed a -5 or 5q- abnormality. In patients treated with phlebotomy alone, +8 and +9 were the most frequent findings. The type of therapy given during active PV influences the type of chromosome abnormalities present during terminal AML or MDS and can also be instrumental in the development of leukemia.

  4. The uniqueness of morphological features of pure erythroid leukemia in myeloid neoplasm with erythroid predominance: A reassessment using criteria revised in the 2016 World Health Organization classification.

    Science.gov (United States)

    Ko, Po-Shen; Liu, Yao-Chung; Yeh, Chiu-Mei; Gau, Jyh-Pyng; Yu, Yuan-Bin; Hsiao, Liang-Tsai; Tzeng, Cheng-Hwai; Chen, Po-Min; Chiou, Tzeon-Jye; Liu, Chia-Jen; Liu, Jin-Hwang

    2017-01-01

    We reviewed 97 consecutive cases of myeloid neoplasm with erythroid predominance (MN-EP) between 2000 and 2015. Following 2016 WHO classification, MN-EP patients were classified into four groups. Eight pure erythroid leukemia (PEL) (including t-MN and AML-MRC morphologically fulfilled criteria for PEL) patients had dismal outcomes (median OS: 1 month) and showed more bone marrow fibrosis, worse performance status (PS) and higher serum lactate dehydrogenase (LDH) at diagnosis than the other groups. In the univariate analysis, risks of death in MN-EP patients included the morphologic features of PEL, very poor cytogenetic risk by IPSS-R, bone marrow fibrosis, leukocytosis, anemia, hypoalbuminemia, high LDH, and poor PS. In the multivariate analysis, independent predictors of death were morphologic features of PEL (adjusted hazards ratio [HR] 3.48, 95% confidence interval [CI] 1.24-9.74, p = 0.018), very poor cytogenetic risk by IPSS-R (adjusted HR 2.73, 95% CI 1.22-6.10, p = 0.015), hypoalbuminemia (< 3.7 g/dl) (adjusted HR 2.33, 95% CI 1.10-4.91, p = 0.026) and high serum LDH (≥ 250 U/L) (adjusted HR 2.36, 95% CI 1.28-4.36, p = 0.006). Poor or unfavorable risk in different cytogenetic risk systems independently predicted death and UKMRC-R was the best model.

  5. The clathrin-binding domain of CALM-AF10 alters the phenotype of myeloid neoplasms in mice.

    Science.gov (United States)

    Stoddart, A; Tennant, T R; Fernald, A A; Anastasi, J; Brodsky, F M; Le Beau, M M

    2012-01-26

    The PICALM (CALM) gene, whose product is involved in clathrin-mediated endocytosis, has been identified in two recurring chromosomal translocations, involving either MLL or MLLT10 (AF10). We developed a mouse model of CALM-AF10(+) leukemia to examine the hypothesis that disruption of endocytosis contributes to leukemogenesis. Exclusion of the C-terminal portion of CALM from the fusion protein, which is required for optimal binding to clathrin, resulted in the development of a myeloproliferative disease, whereas inclusion of this domain led to the development of acute myeloid leukemia and changes in gene expression of several cancer-related genes, notably Pim1 and Crebbp. Nonetheless, the development of leukemia could not be attributed directly to interference with endocytosis or consequential changes in proliferation and signaling. In leukemia cells, full-length CALM-AF10 localized to the nucleus with no consistent effect on growth factor endocyctosis, and suppressed histone H3 lysine 79 methylation regardless of the presence of clathrin. Using fluorescence resonance energy transfer analysis, we show that CALM-AF10 has a propensity to homo-oligomerize, raising the possibility that the function of endocytic proteins involved in chimeric fusions may be to provide dimerization properties, a recognized mechanism for unleashing oncogenic properties of chimeric transcription factors, rather than disrupting the internalization of growth factor receptors.

  6. Therapy-induced secondary acute myeloid leukemia with t(11;19)(q23;p13.1) in a pediatric patient with relapsed acute promyelocytic leukemia.

    Science.gov (United States)

    Dang, Daniel N; Morris, Heather D; Feusner, James H; Koduru, Prasad; Wilson, Kathleen; Timmons, Charles F; Cavalier, MaryEllen; Luu, Hung S

    2014-11-01

    Acute myeloid leukemia is classified based upon recurrent cytogenetic abnormalities. The t(15;17)(q24.1;q21.1) abnormality is found in 5% to 8% of de novo acute myeloid leukemia and is diagnostic of acute promyelocytic leukemia (APL). The translocation results in fusion of the retinoic acid receptor-α (RARA) gene at 17q21.1 and the promyelocytic leukemia (PML) gene at 15q24.1. Standard APL therapy is a combination of all-trans retinoic acid and anthracycline-based chemotherapy. Anthracycline treatment is associated with secondary clonal chromosomal aberrations that can lead to therapy-related secondary myeloid neoplasms. We present a pediatric case of relapsed APL coexistent with treatment-associated secondary myeloid neoplasm with t(11;19)(q23;p13.1).

  7. Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®)—Health Professional Version

    Science.gov (United States)

    Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are composed of three major myeloid disorders: chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), and atypical chronic myeloid leukemia (aCML). Learn about the clinical features and treatment of these leukemias.

  8. MYC oncogene in myeloid neoplasias.

    Science.gov (United States)

    Delgado, M Dolores; Albajar, Marta; Gomez-Casares, M Teresa; Batlle, Ana; León, Javier

    2013-02-01

    MYC is a transcription factor that regulates many critical genes for cell proliferation, differentiation, and biomass accumulation. MYC is one of the most prevalent oncogenes found to be altered in human cancer, being deregulated in about 50 % of tumors. Although MYC deregulation has been more frequently associated to lymphoma and lymphoblastic leukemia than to myeloid malignancies, a body of evidence has been gathered showing that MYC plays a relevant role in malignancies derived from the myeloid compartment. The myeloid leukemogenic activity of MYC has been demonstrated in different murine models. Not surprisingly, MYC has been found to be amplified or/and deregulated in the three major types of myeloid neoplasms: acute myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms, including chronic myeloid leukemia. Here, we review the recent literature describing the involvement of MYC in myeloid tumors.

  9. Selumetinib in Treating Patients With Recurrent or Refractory Acute Myeloid Leukemia

    Science.gov (United States)

    2015-07-06

    Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Promyelocytic Leukemia (M3); Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia

  10. Novel fusion between the breakpoint cluster region and platelet-derived growth factor receptor-alpha genes in a patient with chronic myeloid leukemia-like neoplasm: undetectable residual disease after imatinib therapy.

    Science.gov (United States)

    Cluzeau, Thomas; Lippert, Eric; Cayuela, Jean-Michel; Maarek, Odile; Migeon, Marina; Noguera, Maria-Elena; Dombret, Hervé; Rea, Delphine

    2015-11-01

    Rare patients suffering from myeloid neoplasms share clinical and cytological features indistinguishable from chronic myeloid leukemia (CML) but lack the BCR-ABL1 fusion gene. Several studies provide evidence that alterations in genes encoding tyrosine kinase receptors such as the platelet-derived growth factor receptor (PDGFR) may be involved in the pathogenesis of these disorders. Here we describe a patient with a rare CML-like disease in whom we identified a novel in-frame BCR-PDGFRA rearrangement joining BCR exon 17 to PDGFRA exon 13, resulting in overexpression of PDGFRA. The design of a specific quantitative PCR assay to monitor the molecular response during treatment with imatinib, a multitargeted tyrosine kinase inhibitor (TKI) with activity against ABL, c-Kit, and PDGFRA revealed an outstanding disease control with durably undetectable BCR-PDGFRA transcripts. Multiple TKIs are currently available yet with distinct target profiles; thus, accurate molecular diagnosis and monitoring tools are essential to establish tailored treatments and assess response to therapy in this type of rare hematological malignancy. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Myelodysplastic/ Myeloproliferative Neoplasms Treatment

    Science.gov (United States)

    ... Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®)–Patient Version General Information About Myelodysplastic/ ...

  12. Association of Therapy for Autoimmune Disease With Myelodysplastic Syndromes and Acute Myeloid Leukemia.

    Science.gov (United States)

    Ertz-Archambault, Natalie; Kosiorek, Heidi; Taylor, Gretchen E; Kelemen, Katalin; Dueck, Amylou; Castro, Janna; Marino, Robert; Gauthier, Susanne; Finn, Laura; Sproat, Lisa Z; Palmer, Jeanne; Mesa, Ruben A; Al-Kali, Aref; Foran, James; Tibes, Raoul

    2017-07-01

    Therapy-related myeloid neoplasms are a potentially life-threatening consequence of treatment for autoimmune disease (AID) and an emerging clinical phenomenon. To query the association of cytotoxic, anti-inflammatory, and immunomodulating agents to treat patients with AID with the risk for developing myeloid neoplasm. This retrospective case-control study and medical record review included 40 011 patients with an International Classification of Diseases, Ninth Revision, coded diagnosis of primary AID who were seen at 2 centers from January 1, 2004, to December 31, 2014; of these, 311 patients had a concomitant coded diagnosis of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Eighty-six cases met strict inclusion criteria. A case-control match was performed at a 2:1 ratio. Odds ratio (OR) assessment for AID-directed therapies. Among the 86 patients who met inclusion criteria (49 men [57%]; 37 women [43%]; mean [SD] age, 72.3 [15.6] years), 55 (64.0%) had MDS, 21 (24.4%) had de novo AML, and 10 (11.6%) had AML and a history of MDS. Rheumatoid arthritis (23 [26.7%]), psoriasis (18 [20.9%]), and systemic lupus erythematosus (12 [14.0%]) were the most common autoimmune profiles. Median time from onset of AID to diagnosis of myeloid neoplasm was 8 (interquartile range, 4-15) years. A total of 57 of 86 cases (66.3%) received a cytotoxic or an immunomodulating agent. In the comparison group of 172 controls (98 men [57.0%]; 74 women [43.0%]; mean [SD] age, 72.7 [13.8] years), 105 (61.0%) received either agent (P = .50). Azathioprine sodium use was observed more frequently in cases (odds ratio [OR], 7.05; 95% CI, 2.35- 21.13; P myeloid neoplasm. The control and case cohorts had similar systemic exposures by agent category. No association was found for anti-tumor necrosis factor agents. Finally, no timeline was found for the association of drug exposure with the incidence in development of myeloid neoplasm.

  13. INCIDENCE OF ACUTE MYELOID LEUKEMIA AFTER BREAST CANCER

    Directory of Open Access Journals (Sweden)

    Caterina Giovanna Valentini

    2011-12-01

    Full Text Available Breast cancer is the most frequent cancer among women and the leading cause of death among middle-aged women. Early detection by mammography screening and improvement of therapeutic options have increased breast cancer survival rates, with the consequence that late side effects of cancer treatment become increasingly important. In particular, patients treated with adjuvant chemotherapy regimens, commonly including alkylating agents and anthracyclines, are at increased risk of developing leukemia, further enhanced by the use of radiotherapy. In the last few years also the use of growth factors seems to increase the risk of secondary leukemia. The purpose of this review is to update epidemiology of therapy-related myeloid neoplasms occurring in breast cancer patients

  14. INCIDENCE OF ACUTE MYELOID LEUKEMIA AFTER BREAST CANCER

    Directory of Open Access Journals (Sweden)

    Morena Caira

    2011-01-01

    Full Text Available Breast cancer is the most frequent cancer among women and the leading cause of death among middle-aged women. Early detection by mammography screening and improvement of therapeutic options have increased breast cancer survival rates, with the consequence that late side effects of cancer treatment become increasingly important. In particular, patients treated with adjuvant chemotherapy regimens, commonly including alkylating agents and anthracyclines, are at increased risk of developing leukemia, further enhanced by the use of radiotherapy. In the last few years also the use of growth factors seems to increase the risk of secondary leukemia. The purpose of this review is to update epidemiology of therapy-related myeloid neoplasms occurring in breast cancer patients

  15. Chronic myeloproliferative neoplasms and subsequent cancer risk

    DEFF Research Database (Denmark)

    Frederiksen, H.; Farkas, Dora Kormendine; Christiansen, C.F.

    2011-01-01

    Patients with chronic myeloproliferative neoplasms, including essential thrombocythemia (ET), polycythemia vera (PV), and chronic myeloid leukemia (CML), are at increased risk of new hematologic malignancies, but their risk of nonhematologic malignancies remains unknown. In the present study, we...... diagnosed with a chronic myeloproliferative neoplasm during 1977-2008. We compared the incidence of subsequent cancer in this cohort with that expected on the basis of cancer incidence in the general population (standardized incidence ratio). Overall, ET, PV, and CML patients were at increased risk...... conclude that patients with chronic myeloproliferative neoplasms are at increased risk of developing a new malignant disease....

  16. Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable

    Science.gov (United States)

    ... Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®)–Patient Version General Information About Myelodysplastic/ ...

  17. Secondary Malignant Neoplasms Following Haematopoietic Stem Cell Transplantation in Childhood

    Directory of Open Access Journals (Sweden)

    Simon Bomken

    2015-04-01

    Full Text Available Improving survival rates in children with malignancy have been achieved at the cost of a high frequency of late adverse effects of treatment, especially in intensively treated patients such as those undergoing haematopoietic stem cell transplantation (HSCT, many of whom suffer the high burden of chronic toxicity. Secondary malignant neoplasms (SMNs are one of the most devastating late effects, cause much morbidity and are the most frequent cause of late (yet still premature treatment-related mortality. They occur in up to 7% of HSCT recipients by 20 years post-HSCT, and with no evidence yet of a plateau in incidence with longer follow-up. This review describes the epidemiology, pathogenesis, clinical features and risk factors of the three main categories of post-HSCT SMNs. A wide range of solid SMNs has been described, usually occurring 10 years or more post-HSCT, related most often to previous or conditioning radiotherapy. Therapy-related acute myeloid leukaemia/myelodysplasia occurs earlier, typically three to seven years post-HSCT, mainly in recipients of autologous transplant and is related to previous alkylating agent or topoisomerase II inhibitor chemotherapy. Post-transplant lymphoproliferative disorders occur early (usually within two years post-HSCT, usually presenting as Epstein-Barr virus-related B cell non-Hodgkin lymphoma.

  18. Treatment-related Myelodysplastic Syndrome in a Child With Acute Myeloid Leukemia and TPMT Heterozygosity

    DEFF Research Database (Denmark)

    Stensman, Lars M; Kjeldsen, Eigil; Nersting, Jacob

    2014-01-01

    INTRODUCTION: We describe a patient diagnosed with acute myeloid leukemia (AML) and low activity of thiopurine methyltransferase (TPMT) who developed secondary myelodysplastic syndrome after treatment. OBSERVATION: A 10-year-old boy presented with AML-M2 with t(8;21)(q22;q22) and genotyping...... revealing 3*B TPMT heterozygosity. The patient was treated according to the NOPHO-AML 2004 protocol. Two years after the treatment, the patient presented with neutropenia and thrombocytopenia. Bone marrow, including fluorescent in situ hybridization and retrospective aCGH analysis, verified therapy......-related myelodysplastic syndrome with ring chromosome 6. DISCUSSION: The clinical course of this patient raises the possibility that low-activity TPMT genotypes may influence 6TG toxicity in patients with AML and lead to an increased risk of developing secondary malignant neoplasms....

  19. Molecular mechanisms associated with leukemic transformation of MPL-mutant myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Beer, Philip A; Ortmann, Christina A; Stegelmann, Frank

    2010-01-01

    Somatic activating mutations in MPL, the thrombopoietin receptor, occur in the myeloproliferative neoplasms, although virtually nothing is known about their role in evolution to acute myeloid leukemia. In this study, the MPL T487A mutation, identified in de novo acute myeloid leukemia, was not de......Somatic activating mutations in MPL, the thrombopoietin receptor, occur in the myeloproliferative neoplasms, although virtually nothing is known about their role in evolution to acute myeloid leukemia. In this study, the MPL T487A mutation, identified in de novo acute myeloid leukemia......, was not detected in 172 patients with a myeloproliferative neoplasm. In patients with a prior MPL W515L-mutant myeloproliferative neoplasm, leukemic transformation was accompanied by MPL-mutant leukemic blasts, was seen in the absence of prior cytoreductive therapy and often involved loss of wild-type MPL...

  20. Acupuncture therapy related cardiac injury.

    Science.gov (United States)

    Li, Xue-feng; Wang, Xian

    2013-12-01

    Cardiac injury is the most serious adverse event in acupuncture therapy. The causes include needling chest points near the heart, the cardiac enlargement and pericardial effusion that will enlarge the projected area on the body surface and make the proper depth of needling shorter, and the incorrect needling method of the points. Therefore, acupuncture practitioners must be familiar with the points of the heart projected area on the chest and the correct needling methods in order to reduce the risk of acupuncture therapy related cardiac injury.

  1. Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes.

    Science.gov (United States)

    Thota, Swapna; Gerds, Aaron T

    2018-04-01

    Myelodysplastic and myeloproliferative neoplasms (MDS/MPN) is a rare and distinct group of myeloid neoplasms with overlapping MDS and MPN features. Next generation sequencing studies have led to an improved understanding of MDS/MPN disease biology by identifying recurrent somatic mutations. Combining the molecular findings to patho-morphologic features has improved the precision of diagnosis and prognostic models in MDS/MPN. We discuss and highlight these updates in MDS/MPN nomenclature and diagnostic criteria per revised 2016 WHO classification of myeloid neoplasms in this article. There is an ongoing effort for data integration allowing for comprehensive genomic characterization, development of improved prognostic tools, and investigation for novel therapies using an international front specific for MDS/MPN. In this article, we discuss updates in prognostic models and current state of treatment for MDS/MPN.

  2. Intraductal papillary mucinous neoplasm.

    Science.gov (United States)

    Shi, Chanjuan; Hruban, Ralph H

    2012-01-01

    Intraductal papillary mucinous neoplasm (IPMN) is a grossly visible (≥1 cm), mucin-producing neoplasm that arises in the main pancreatic duct and/or its branches. Patients with intraductal papillary mucinous neoplasm can present with symptoms caused by obstruction of the pancreatic duct system, or they can be asymptomatic. There are 3 clinical subtypes of intraductal papillary mucinous neoplasm: main duct, branch duct, and mixed. Five histologic types of intraductal papillary mucinous neoplasm are recognized: gastric foveolar type, intestinal type, pancreatobiliary type, intraductal oncocytic papillary neoplasm, and intraductal tubulopapillary neoplasm. Noninvasive intraductal papillary mucinous neoplasms are classified into 3 grades based on the degree of cytoarchitectural atypia: low-, intermediate-, and high-grade dysplasia. The most important prognosticator, however, is the presence or absence of an associated invasive carcinoma. Some main duct-intraductal papillary mucinous neoplasms progress into invasive carcinoma, mainly tubular adenocarcinoma (conventional pancreatic ductal adenocarcinoma) and colloid carcinoma. Branch duct-intraductal papillary mucinous neoplasms have a low risk for malignant transformation. Preoperative prediction of the malignant potential of an intraductal papillary mucinous neoplasm is of growing importance because pancreatic surgery has its complications, and many small intraductal papillary mucinous neoplasms, especially branch duct-intraductal papillary mucinous neoplasms, have an extremely low risk of progressing to an invasive cancer. Although most clinical decision making relies on imaging, a better understanding of the molecular genetics of intraductal papillary mucinous neoplasm could help identify molecular markers of high-risk lesions. When surgery is performed, intraoperative frozen section assessment of the pancreatic resection margin can guide the extent of resection. Intraductal papillary mucinous neoplasms are often

  3. Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia.

    Science.gov (United States)

    Yang, John J; Park, Tae Sung; Wan, Thomas S K

    2017-01-01

    The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.

  4. Therapy-related myelodysplastic syndrome.

    Science.gov (United States)

    Candelaria, Myrna; Dueñas-Gonzalez, Alfonso

    2015-05-01

    Myelodysplastic syndrome (MDS) is a heterogeneous clonal disorder characterized by deregulation of apoptosis, dysplastic features in hematopoietic precursors, peripheral blood cytopenias and an increased risk for transformation to acute leukemia. Roughly 20% of MDS are therapy related (t-MDS), and this is considered an independent adverse prognostic factor. This review based on a comprehensive literature search provides an overview on the main features of t-MDS, including its epidemiology, risk factors, molecular pathogenesis, prognostic classifications and therapy. Increasing evidence points out that the most important event in t-MDS is genetic alterations in hematopoietic stem precursor cells, however, ineffective hematopoiesis may also result from abnormalities in the bone marrow microenvironment. Thus, novel views onto the processes of t-MDS are needed such as the osteohematology concept. On the other hand, the number of people living with and beyond cancer is increasing worldwide; thus, most emphasis should be placed on preventing secondary malignancies such as t-MDS. From this review, it becomes clear that we are in urgent need not only to deepen our understanding of the leukemogenesis mechanisms induced by exposure to chemotherapy and radiation but also to translate this knowledge into clinical strategies aimed at risk reduction.

  5. Cutaneous myeloid sarcoma: natural history and biology of an uncommon manifestation of acute myeloid leukemia.

    Science.gov (United States)

    Hurley, M Yadira; Ghahramani, Grant K; Frisch, Stephanie; Armbrecht, Eric S; Lind, Anne C; Nguyen, Tudung T; Hassan, Anjum; Kreisel, Friederike H; Frater, John L

    2013-05-01

    We conducted a retrospective study of patients with cutaneous myeloid sarcoma, from 2 tertiary care institutions. Eighty-three patients presented, with a mean age of 52 years. Diagnosis of myeloid sarcoma in the skin was difficult due to the low frequency of myeloperoxidase and/or CD34+ cases (56% and 19% of tested cases, respectively). Seventy-one of the 83 patients (86%) had ≥ 1 bone marrow biopsy. Twenty-eight (39%) had acute myeloid leukemia with monocytic differentiation. Twenty-three had other de novo acute myeloid leukemia subtypes. Thirteen patients had other myeloid neoplasms, of which 4 ultimately progressed to an acute myeloid leukemia. Seven had no bone marrow malignancy. Ninety-eight percent of the patients received chemotherapy, and approximately 89% died of causes related to their disease. Cutaneous myeloid sarcoma in most cases represents an aggressive manifestation of acute myeloid leukemia. Diagnosis can be challenging due to lack of myeloblast-associated antigen expression in many cases, and difficulty in distinguishing monocyte-lineage blasts from neoplastic and non-neoplastic mature monocytes.

  6. Treated secondary acute myeloid leukemia: a distinct high-risk subset of AML with adverse prognosis.

    Science.gov (United States)

    Boddu, Prajwal; Kantarjian, Hagop M; Garcia-Manero, Guillermo; Ravandi, Farhad; Verstovsek, Srdan; Jabbour, Elias; Borthakur, Gautam; Konopleva, Marina; Bhalla, Kapil N; Daver, Naval; DiNardo, Courtney D; Benton, Christopher B; Takahashi, Koichi; Estrov, Zeev; Pierce, Sherry R; Andreeff, Michael; Cortes, Jorge E; Kadia, Tapan M

    2017-07-25

    Secondary acute myeloid leukemia (s-AML) includes therapy-related AML and AML evolving from antecedent hematological disorder (AHD). s-AML arising after treating AHD likely represents a prognostically distinct, high-risk disease category. In this study, treated s-AML (ts-AML) was defined by: (1) prior diagnosis of myelodysplasia, myeloproliferative neoplasm, or aplastic anemia and (2) at least 1 therapy for that diagnosis. ts-AML was categorized by age (AML based on prior treatment of AHD (ie, ts-AML vs s-AML with untreated AHD, 4.2 vs 9.2 months; P AML was poor across both cohorts (younger and older, 5 and 4.7 months, respectively). In younger AML, survival was significantly inferior in ts-AML when compared with deletion 5/7, TP53, 3q abnormality, and therapy-related AML groups (median, 5 vs 7.9, 7.8, 7.9, and 11.2 months, respectively; P AML was associated with even worse outcomes (OS range, 1.6-2.8 months). ts-AML represents a very high-risk category, even in younger AML patients. s-AML should be further classified to describe ts-AML, an entity less responsive to currently applied treatment approaches. Future AML trial designs should accommodate ts-AML as a distinct subgroup.

  7. Acute myeloid leukemia: advances in diagnosis and classification.

    Science.gov (United States)

    Hasserjian, R P

    2013-06-01

    Acute myeloid leukemia is an aggressive myeloid neoplasm characterized by ≥20% myeloblasts in the blood or bone marrow. Current treatment strategies for acute myeloid leukemia are based on both patient-related parameters such as age and performance status as well as the intrinsic characteristics of particular disease subtypes. Subtyping of acute myeloid leukemia requires an integration of information from the patient's clinical history (such as any prior preleukemic myeloid neoplasm or cytotoxic potentially leukemogenic therapy), the leukemia morphology, cytogenetic findings, and the mutation status of particular genes (NPM1, FLT3, and CEBPA). In recent years, a barrage of information has become available regarding gene mutations that occur in acute myeloid leukemia and their influence on prognosis. Future therapies for acute myeloid leukemia will increasingly rely on the genetic signatures of individual leukemias and will adjust therapy to the predicted disease aggressiveness as well as employ therapies targeted against particular deregulated genetic pathways. This article reviews current standards for diagnosing and classifying acute myeloid leukemia according to the 2008 WHO Classification. Data that have subsequently accumulated regarding newly characterized gene mutations are also presented. It is anticipated that future leukemia classifications will employ a combination of karyotypic features and the gene mutation pattern to stratify patients to increasingly tailored treatment plans. © 2013 Blackwell Publishing Ltd.

  8. Treatment Options for Myelodysplastic/Myeloproliferative Neoplasms

    Science.gov (United States)

    ... Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®)–Patient Version General Information About Myelodysplastic/ ...

  9. General Information about Myelodysplastic/Myeloproliferative Neoplasms

    Science.gov (United States)

    ... Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®)–Patient Version General Information About Myelodysplastic/ ...

  10. Treatment Option Overview (Myelodysplastic/Myeloproliferative Neoplasms)

    Science.gov (United States)

    ... Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®)–Patient Version General Information About Myelodysplastic/ ...

  11. SIMILARITIES OF ELDERLY AND THERAPY-RELATED AML

    Directory of Open Access Journals (Sweden)

    Francesco D'Alò

    2011-11-01

    Full Text Available Acute myeloid leukemia (AML is a clonal disorder of the hematopoietic stem cell, typical of the elderly, with a median age of over 60 years at diagnosis. In AML, older age is one of the strongest independent adverse prognostic factor, associated with decreased complete response rate, worse disease-free and overall survival, with highest rates of treatment related mortality, resistant disease and relapse, compared to younger patients. While clinical risk factors do not significantly differ between older and younger patients, outcomes are compromised in elderly patients not only by increased comorbidities and susceptibility to toxicity from therapy, but it is now recognized that elderly AML represents a biologically distinct disease, that is itself more aggressive and less responsive to therapy. In elderly individuals prolonged exposure to environmental carcinogens may be the basis for the aggressive biology of the disease. This may also be the basis for similarities between elderly AML and therapy-related myeloid malignancies, mimicking toxic effects of previous cytotoxic treatments on hematopoietic stem cells. Age is itself a risk factor for t-MN, which are more frequent in elderly patients, where also a shorter latency between treatment of primary tumor and t-MN has been reported. Similarities between therapy-related malignancies and elderly AML include morphological aspects, as the presence of multilineage dysplasia preceding and/or concomitant to the development of leukemia, and adverse cytogenetics, including poor karyotype and chromosome 5 and/or 7 abnormalities. Looking at molecular prognosticators in elderly AML, similar to t-MN,  reduced frequency of favorable factors, as reduced number of NPM1 and CEBPA mutated cases has been observed, together with increased incidence of negative factors, as increased MDR1 expression, accelerated telomere shortening  and frequency of methylation changes. Given the unfavorable prognosis of elderly and

  12. [Isolated myeloid sarcoma involving the mediastinum].

    Science.gov (United States)

    Jelić-Puskarić, Biljana; Kardum-Skelin, Ika; Sustercić, Dunja; Pazur, Marina; Vrhovac, Radovan; Radić-Kristo, Delfa; Gredelj-Simec, Njetocka; Kovacević, Dragica Obad; Plasćak, Jasmina; Gasparov, Slavko; Jaksić, Branimir

    2011-09-01

    Myeloid sarcoma is a rare extramedullary solid tumor consisting of immature myeloid cells and most commonly involving the bone, skin, lymph nodes, soft tissue, gastrointestinal tract and testis. Mediastinal myeloid sarcoma is very rare. There are two major types of myeloid sarcoma: granulocytic sarcoma and monoblastic sarcoma, according to immature cell type. Myeloid sarcoma is found in 2%-8% of patients with acute myeloid leukemia (AML). Myeloid sarcoma may develop before or concurrently with AML, or may be the initial manifestation of AML relapse in previously treated patients. Blast transformation of some form of myeloproliferative neoplasm or myelodysplastic syndrome may also manifest as myeloid sarcoma. A major differential diagnostic problem is isolated primary myeloid sarcoma without bone marrow and peripheral blood involvement, which may precede leukemic stage for months or years, and which is frequently misdiagnosed, mostly as malignant lymphoma. A case is presented of a 56-year-old female patient complaining of weakness, vertigo, dry cough and breathing difficulties. Clinical examination revealed enhanced vascular pattern on the right chest and right arm edema. Computed tomography (CT) of the thorax showed an expansive growth measuring 11 cm craniocaudally in the anterior mediastinum. Fine needle aspiration cytology of tumor mass yielded a scarcely cellular sample with individual atypical immature cells, fine chromatin structure and scarce cytoplasm with occasional granules and Auer rods. Considering the morphological, cytochemical and immunocytochemical characteristics of immature cells, the diagnosis of myeloid sarcoma was made and verified by histopathology of tumor biopsy sample. Immature cells were not found by analysis of bone marrow puncture sample, immunophenotyping of bone marrow cells and bone biopsy analysis. As immature cell proliferation was not detected in bone marrow and peripheral blood, while spread of the disease beyond the mediastinum

  13. Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies.

    Science.gov (United States)

    Poppe, B; Van Limbergen, H; Van Roy, N; Vandecruys, E; De Paepe, A; Benoit, Y; Speleman, F

    2001-07-01

    Bloom syndrome (BS) predisposes affected individuals to a wide variety of neoplasms including hematological malignancies. Thus far, cytogenetic findings in hematological neoplasms have been reported in only a few BS patients. We present the karyotypic findings in a BS patient diagnosed with acute myeloid leukemia (AML), FAB subtype M1, and a review of the literature, showing the preferential occurrence of total or partial loss of chromosome 7 in BS patients with AML or myelodysplastic syndromes (MDS).

  14. Lineage Switch Between B-Lymphoblastic Leukemia and Acute Myeloid Leukemia Intermediated by "Occult" Myelodysplastic Neoplasm: Two Cases of Adult Patients With Evidence of Genomic Instability and Clonal Selection by Chemotherapy.

    Science.gov (United States)

    Wu, Bin; Jug, Rachel; Luedke, Catherine; Su, Pu; Rehder, Catherine; McCall, Chad; Lagoo, Anand S; Wang, Endi

    2017-08-01

    Lineage switch occurs in rare leukemias, and the mechanism is unclear. We report two cases of B-lymphoblastic leukemia (B-ALL) relapsed as acute myeloid leukemia (AML). Retrospective review of clinical and laboratory data. Complex cytogenetic abnormalities were detected in B-ALL for both cases with subclone heterogeneity. Postchemotherapy marrow biopsies showed trilineage hematopoiesis without detectable B-ALL. Cytogenetics in both showed stemline abnormalities. The cases were considered "occult" myelodysplastic syndrome (MDS) preceding B-ALL. The patients relapsed 6.5 and 9 months following induction, respectively. Case 1 relapsed as AML-M5 initially, was treated as such, and then relapsed again as B-ALL. Case 2 relapsed as AML-M6. Cytogenetics demonstrated persistent abnormalities. Both patients died soon after relapse. Lineage switch between B-ALL and AML could be intermediated by occult MDS. A pluripotent progenitor likely undergoes neoplastic transformation, resulting in a genomically unstable clone. This leads to a repertoire of heterogeneous subclones that may be selected by chemotherapy. Lineage switch heralds a dismal clinical outcome.

  15. Neurological Findings in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Semra Paydas

    2013-04-01

    Full Text Available Myeloproliferative neoplasms (MPN arise from genetic deficiencies at the level of pluripotent stem cells. Each of these neoplasms is a clonal stem cell disorder with specific phenotypic, genetic and clinical properties. Age is one of the most important factors in the development of symptoms and complications associated with MPNs.High white blood cell counts in chronic myelocytic leukemia also known as leukocytosis may lead to central nervous system findings. Tumors developing outside the bone marrow named as extramedullary myeloid tumors (EMMT could be detected at the initial diagnosis or during the prognosis of the disease, which may cause neurological symptoms due to pressure of leukemic cell mass on various tissues along with spinal cord. Central nervous system involvement and thrombocytopenic hemorrhage may lead to diverse neurological symptoms and findings.Transient ischemic attack and thrombotic stroke are the most common symptoms in polycythemia vera. Besides thrombosis and hemorrage, transformation to acute leukemia can cause neurological symptoms and findings. Transient ischemic attack, thrombotic stroke and specifically hemorrage can give rise to neurological symptoms similar to MPN in essential thrombocytosis.Extramedullary hematopoiesis refers to hematopoietic centers arise in organ/tissues other than bone marrow in myelofibrosis. Extramedullar hematopoietic centers may cause intracranial involvement, spinal cord compression, seizures and hydrocephalia. Though rare, extramedullary hematopoiesis can be detected in cranial/spinal meninges, paraspinal tissue and intracerebral regions. Extramedullary hematopoiesis has been reported in peripheral neurons, choroid plexus, pituitary, orbits, orbital and lacrimal fossa and in sphenoidal sinuses. [Cukurova Med J 2013; 38(2.000: 157-169

  16. [Incidence of haematological neoplasms in Castilla y León, Spain].

    Science.gov (United States)

    Rodríguez-García, José Antonio; Vázquez, Lourdes; Ramos, Fernando; Cuevas, Beatriz; Martín, Alejandro; Smucler, Alicia; Guerola, Dulce Nombre; Cantalapiedra, Alberto; Alonso, José María; Fernández, Silvia; Díez, Eva; Rodríguez, María Jesús; Calmuntia, María José; Aguilar, Carlos; Sierra, Magdalena; Gracia, José Antonio; Cebeira, María José; Cantalejo, Rosa

    2015-06-08

    We aimed to assess the incidence of haematological neoplasms (HNs) in Castilla y León (2,5 million inhabitants) and its distribution by age, gender and histological type. The epidemiological profile based on the described variables of the 10,943 HNs diagnosed during a 10-years period was analyzed, compared with other studies. The overall age-adjusted incidence was 29.4 cases/10(5) inhabitants-year, with some geographical differences. The mean age was 67.3 years, with a turning point between the 6th-7th decades of life from which there was a very significant increase of incidence. Two relevant facts where simultaneous with advancing age: decreased lymphoid neoplasms incidence and increased low degree neoplasms incidence. Lymphoid low degree neoplasms accounted for half of the registered processes, showed the greatest preference for male and reached the mode before the rest of neoplasms. Myeloid neoplasms incidence (9.5) was higher than that reported in other European registries, specially compared to southern European countries, opposite to lymphoid neoplasms incidence (20.0). A higher myeloid neoplasms incidence and lower lymphoid one than expected was observed. The turning point of incidence is between the 6th-7th decades of life, with a preference for male that decreases with age. There is an increased incidence of HNs in the area where a higher density of potentially polluting facilities is concentrated. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  17. Diagnostic confusion resulting from CD56 expression by cutaneous myeloid sarcoma

    Directory of Open Access Journals (Sweden)

    Sheeja T. Pullarkat

    2009-12-01

    Full Text Available Myeloid sarcomas are tumor masses composed of aggregates of malignant myeloid precursors in extramedullary sites including the skin. We report a case of myeloid sarcoma in a patient who presented with an ear lobe mass and facial nerve paralysis. Expression of CD56 by the malignant cells led to an initial misdiagnosis as Merkel cell tumor. Comprehensive pathological evaluation confirmed the diagnosis of myeloid sarcoma with aberrant expression of CD56 and carrying the translocation t(8;21 (q22;q22. Aberrant antigen expression by cutaneous myeloid sarcomas can cause diagnostic confusion with other cutaneous neoplasms. This is especially relevant when myeloid sarcoma is the sole manifestation of acute myeloid leukemia.

  18. Acute myeloid leukemia (AML with erythroid predominance exhibits clinical and molecular characteristics that differ from other types of AML.

    Directory of Open Access Journals (Sweden)

    Zhuang Zuo

    Full Text Available The clinical importance of erythroid predominance in bone marrow of patients with acute myeloid leukemia (AML is controversial. These cases represent a heterogeneous group of diseases that historically have been classified into different categories. We studied 313 AML patients and specifically compared the clinical, cytogenetic, and molecular features of cases of AML with erythroid predominance, arbitrarily defined as ≥50% erythroid precursors, to AML cases without erythroid predominance. We also assessed 51 patients with a high-grade myelodysplastic syndrome (MDS, refractory anemia with excess blasts (RAEB. All neoplasms were classified according to the World Health Organization classification. With the exception of therapy-related AML/MDS, the presence of erythroid predominance in variously classified categories of AML was associated with a survival advantage. In addition, AML with erythroid predominance had a lower frequency of cytogenetic abnormalities as well as a lower frequency of mutations involving NPM1, NRAS and FLT3 as compared with AML without erythroid predominance. We conclude that the clinical, cytogenetic, and molecular features of AML with erythroid predominance in the non-therapy-related setting are much closer to those of a high-grade myelodysplastic syndrome than they are to other types of AML.

  19. ALK-immunoreactive neoplasms.

    Science.gov (United States)

    Minoo, Parham; Wang, Huan-You

    2012-01-01

    Since the first discovery of anaplastic lymphoma kinase (ALK) in anaplastic large cell lymphoma (ALCL) by Morris et al in 1994, the number of ALK-positive neoplasms, either in the form of translocation or gain-of-function mutations, have been dramatically expanded from ALCL of T- and NK-cell origin, to diffuse large B-cell lymphoma, inflammatory myofibroblastic tumor (IMT), neuroblastoma, non-small cell lung carcinoma (NSCLC), undifferentiated anaplastic thyroid carcinoma, and rare type of sarcomas. This review covers the major aspects of ALK-immunoreactive neoplasms with emphasis on the pathogenesis of ALK-positive neoplasms. The new advances and rapid-evolving practices using ALK inhibitors for therapy are also discussed at the end of this review. ALK(+) articles published in English literature are retrieved and critically reviewed. ALK(+) neoplasia is a rapidly growing field and the list of ALK(+) neoplasms is being expanded continuously. Accurate and correct diagnosis of ALK(+) neoplasms is of paramount importance in guiding the appropriate treatment in the era of personalized medicine using specific ALK inhibitor.

  20. The role of mutations in epigenetic regulators in myeloid malignancies.

    Science.gov (United States)

    Woods, Brittany A; Levine, Ross L

    2015-01-01

    Over the past decade, genomic studies have identified a number of novel and recurrent somatic mutations that affect epigenetic patterning in patients with myeloid malignancies, including myeloproliferative neoplasms, myelodysplastic syndrome, and acute myeloid leukemia. Many of these mutations occur in genes with established roles in the regulation and maintenance of DNA methylation and/or chromatin modifications in hematopoietic stem/progenitor cells. Subsequent genetic and functional studies have revealed that these mutations affect epigenetic patterning in myeloid diseases. In this review, we discuss historical and recent studies implicating epigenetic modifiers in the development and evolution of the various myeloid malignancies and discuss how this knowledge has and will lead to future clinical and biologic insights. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Exploring the acute myeloid leukaemias

    Directory of Open Access Journals (Sweden)

    TB Thapa

    2013-10-01

    Full Text Available The acute myeloid leukemias are genetically a diverse group of neoplasm with varied clinical behavior and response to treatment. Advances in immunophenotyping, cytogenetics and molecular genetics have resulted in better understanding of their genesis. Risk stratification of different variants is now emerging. Therapy strategies are now increasingly being developed considering the inherent biological behavior of the different subtypes. It is anticipated that in the future, deeper secrets of these once fatal diseases will be unraveled by advances in newer genomic techniques. It is hoped that future use of gene specific tailored therapy and strategies will result in longer survival in cases showing poorer prognosis at present. DOI: http://dx.doi.org/10.3126/jpn.v3i6.9001 Journal of Pathology of Nepal (2013 Vol. 3, 497-501

  2. Hematolymphoid neoplasms associated with rearrangements of PDGFRA, PDGFRB, and FGFR1.

    Science.gov (United States)

    Vega, Francisco; Medeiros, L Jeffrey; Bueso-Ramos, Carlos E; Arboleda, Patricia; Miranda, Roberto N

    2015-09-01

    This session of the 2013 Society for Hematopathology/European Association for Haematopathology Workshop was dedicated to tumors currently included in the World Health Organization (WHO) classification category of myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1. We use the cases submitted to this session to review the clinicopathologic and genetic spectrum of these neoplasms, methods for their diagnosis, and issues related to the WHO classification terminology. Since many patients with these neoplasms have eosinophilia, we also briefly mention other causes of clonal eosinophilia. These neoplasms are the result of gene fusions involving any one of these three tyrosine kinase genes. A variety of gene fusion partners have been found consistently for each category of neoplasms. Diagnoses of these neoplasms are often highly challenging and require a high index of suspicion and a multidisciplinary approach. Early recognition of these neoplasms is important because patients with neoplasms associated with PDGFRA or PDGFRB fusions often respond to tyrosine kinase inhibitor therapy, whereas patients with neoplasms associated with FGFR1 fusions usually do not respond. Copyright© by the American Society for Clinical Pathology.

  3. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

    Science.gov (United States)

    Nangalia, J; Massie, C E; Baxter, E J; Nice, F L; Gundem, G; Wedge, D C; Avezov, E; Li, J; Kollmann, K; Kent, D G; Aziz, A; Godfrey, A L; Hinton, J; Martincorena, I; Van Loo, P; Jones, A V; Guglielmelli, P; Tarpey, P; Harding, H P; Fitzpatrick, J D; Goudie, C T; Ortmann, C A; Loughran, S J; Raine, K; Jones, D R; Butler, A P; Teague, J W; O'Meara, S; McLaren, S; Bianchi, M; Silber, Y; Dimitropoulou, D; Bloxham, D; Mudie, L; Maddison, M; Robinson, B; Keohane, C; Maclean, C; Hill, K; Orchard, K; Tauro, S; Du, M-Q; Greaves, M; Bowen, D; Huntly, B J P; Harrison, C N; Cross, N C P; Ron, D; Vannucchi, A M; Papaemmanuil, E; Campbell, P J; Green, A R

    2013-12-19

    Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge. We performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. We established phylogenetic trees using hematopoietic colonies. We assessed calreticulin subcellular localization using immunofluorescence and flow cytometry. Exome sequencing identified 1498 mutations in 151 patients, with medians of 6.5, 6.5, and 13.0 mutations per patient in samples of polycythemia vera, essential thrombocythemia, and myelofibrosis, respectively. Somatic CALR mutations were found in 70 to 84% of samples of myeloproliferative neoplasms with nonmutated JAK2, in 8% of myelodysplasia samples, in occasional samples of other myeloid cancers, and in none of the other cancers. A total of 148 CALR mutations were identified with 19 distinct variants. Mutations were located in exon 9 and generated a +1 base-pair frameshift, which would result in a mutant protein with a novel C-terminal. Mutant calreticulin was observed in the endoplasmic reticulum without increased cell-surface or Golgi accumulation. Patients with myeloproliferative neoplasms carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels than patients with mutated JAK2. Mutation of CALR was detected in hematopoietic stem and progenitor cells. Clonal analyses showed CALR mutations in the earliest phylogenetic node, a finding consistent with its role as an initiating mutation in some patients. Somatic mutations in the endoplasmic reticulum chaperone CALR were found in a majority of patients with myeloproliferative neoplasms with nonmutated JAK2. (Funded by the Kay

  4. Myeloid malignancies: mutations, models and management

    Directory of Open Access Journals (Sweden)

    Murati Anne

    2012-07-01

    Full Text Available Abstract Myeloid malignant diseases comprise chronic (including myelodysplastic syndromes, myeloproliferative neoplasms and chronic myelomonocytic leukemia and acute (acute myeloid leukemia stages. They are clonal diseases arising in hematopoietic stem or progenitor cells. Mutations responsible for these diseases occur in several genes whose encoded proteins belong principally to five classes: signaling pathways proteins (e.g. CBL, FLT3, JAK2, RAS, transcription factors (e.g. CEBPA, ETV6, RUNX1, epigenetic regulators (e.g. ASXL1, DNMT3A, EZH2, IDH1, IDH2, SUZ12, TET2, UTX, tumor suppressors (e.g. TP53, and components of the spliceosome (e.g. SF3B1, SRSF2. Large-scale sequencing efforts will soon lead to the establishment of a comprehensive repertoire of these mutations, allowing for a better definition and classification of myeloid malignancies, the identification of new prognostic markers and therapeutic targets, and the development of novel therapies. Given the importance of epigenetic deregulation in myeloid diseases, the use of drugs targeting epigenetic regulators appears as a most promising therapeutic approach.

  5. The Importance of Identification of M-BCRABL Oncogene and JAK2V617F Mutation in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Szántó Annamária

    2014-04-01

    Full Text Available Background: The elucidation of the genetic background of the myeloproliferative neoplasms completely changed the management of these disorders: the presence of the Philadelphia chromosome and/or the BCR-ABL oncogene is pathognomonic for chronic myeloid leukemia and identification of JAK2 gene mutations are useful in polycytemia vera (PV, essential thrombocytemia (ET and myelofibrosis (PMF. The aim of this study was to investigate the role of molecular biology tests in the management of myeloproliferative neoplasms.

  6. Molecular genetics of chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia

    OpenAIRE

    Li, Bing; Gale, Robert Peter; Xiao, Zhijian

    2014-01-01

    According to the 2008 World Health Organization classification, chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia are rare diseases. The remarkable progress in our understanding of the molecular genetics of myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms has made it clear that there are some specific genetic abnormalities in these 3 rare diseases. At the same time, there is considerable overlap among these disord...

  7. Classification and diagnosis of pancreatic cystic neoplasm

    OpenAIRE

    LYU Yan; ZHANG, XIAOWEN

    2016-01-01

    Pancreatic cystic neoplasm is a relatively rare potential neoplasm in clinical practice and has a low-grade malignancy. Pancreatic cystic neoplasm is classified as serous cystic neoplasm, mucinous cystic neoplasm, intraductal papillary mucinous neoplasm, and solid pseudopapillary neoplasm. Due to its complex pathological type and the deep location of the pancreas, patients often lack typical clinical symptoms and signs, which may easily lead to misdiagnosis or missed diagnosis. This article i...

  8. Second Malignant Neoplasms After Treatment of Childhood Acute Lymphoblastic Leukemia

    DEFF Research Database (Denmark)

    Schmiegelow, K.; Levinsen, Mette Frandsen; Attarbaschi, Andishe

    2013-01-01

    PURPOSE: Second malignant neoplasms (SMNs) after diagnosis of childhood acute lymphoblastic leukemia (ALL) are rare events. PATIENTS AND METHODS: We analyzed data on risk factors and outcomes of 642 children with SMNs occurring after treatment for ALL from 18 collaborative study groups between 1980...... and 2007. RESULTS: Acute myeloid leukemia (AML; n = 186), myelodysplastic syndrome (MDS; n = 69), and nonmeningioma brain tumor (n = 116) were the most common types of SMNs and had the poorest outcome (5-year survival rate, 18.1% ± 2.9%, 31.1% ± 6.2%, and 18.3% ± 3.8%, respectively). Five-year survival...

  9. Increased plasma d-2-hydroxyglutarate in isocitrate dehydrogenase 2-mutated blastic plasmacytoid dendritic cell neoplasm.

    Science.gov (United States)

    Rakheja, Dinesh; Fuda, Franklin; Vandergriff, Travis; Boriack, Richard; Medeiros, Bruno C; Frankel, Arthur E; Chen, Weina

    2015-02-01

    Blastic plasmacytoid dendritic cell neoplasm is an exceedingly rare hematologic malignancy derived from the precursors of plasmacytoid dendritic cells. Mutations in isocitrate dehydrogenase (IDH) 1 and 2 genes have been discovered in a range of neoplasms including glioma, acute myeloid leukemia, chondrosarcoma, and intrahepatic cholangiocarcinoma. Mutant IDH acquires neomorphic enzymatic activity to generate the oncometabolite d-2-hydroxyglutarate (d-2HG). Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid dendritic cell neoplasm in a patient with markedly elevated plasma d-2HG. This finding expands the spectrum of neoplasms with increased d-2HG in association with IDH mutation. The roles of IDH mutation and d-2HG in disease pathogenesis and assessment of clinical response are discussed. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Diagnostic work-up of acute myeloid leukemia.

    Science.gov (United States)

    Weinberg, Olga K; Sohani, Aliyah R; Bhargava, Parul; Nardi, Valentina

    2017-03-01

    Acute myeloid leukemia (AML) is characterized by a clonal expansion of undifferentiated myeloid precursors resulting in impaired hematopoiesis and bone marrow failure. In 2016, the World Health Organization (WHO) published revisions to the classification of myeloid neoplasms and acute leukemias. Similar to the 2008 classification, the updated classification incorporates clinical features, morphology, immunophenotyping, and cytogenetics, with greater emphasis on molecular genetics, to define disease entities. This brief review addresses the various components of pathologic assessment to establish a diagnosis of AML and to help risk stratify patients, with an emphasis on newer techniques used in the detection of mutations with prognostic significance, as well as assays employed in the evaluation of minimal residual disease following treatment. © 2017 Wiley Periodicals, Inc.

  11. Diagnosis of acute myeloid leukemia in a dental hospital; report of a ...

    African Journals Online (AJOL)

    Acute myeloid leukemias (AMLs) are aggressive hematopoietic neoplasms that, if untreated, can lead to death within days. Owing to its high morbidity rate, early diagnosis and appropriate medical therapy is essential. Oral lesions may be the presenting feature of acute leukemias and are, therefore, important diagnostic ...

  12. Obesity and gastrointestinal neoplasms

    Directory of Open Access Journals (Sweden)

    Izabela Binkowska-Borgosz

    2014-10-01

    Full Text Available Being overweight or obese is a significant public health problem in the 21st century due to its scale, common existence and its cause-effect association with multiple diseases. Excessive accumulation of adipose tissue in humans is regarded as a major risk factor for development of cardiovascular and skeletal diseases. However, data from recent years have revealed that obesity is also strongly associated with increased risk of the majority of cancers in humans, including those originating from the gastrointestinal tract. During the last few year this association has been thoroughly proven and supported by several epidemiological analyses. The authors present i the current state of knowledge regarding key (pathomechanisms that link metabolism of human adipose tissue to development/progression of neoplasms (especially in the gastrointestinal tract, as well as ii the results of selected clinical studies in which the influence of obesity on risk of gastrointestinal cancer development has been addressed.

  13. A case of chronic myeloid leukemia with features of essential thrombocythemia in peripheral blood and bone marrow

    OpenAIRE

    Byun, Young Jae; Park, Byeong-Bae; Lee, Eun Sung; Choi, Kyung Soo; Lee, Dae Sung

    2014-01-01

    Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by overproduction of myeloid white blood cells. Philadelphia chromosome is an essential finding for CML diagnosis. Generally, a clinical diagnosis of essential thrombocythemia (ET) can be established from isolated marked thrombocytosis in peripheral blood. However, Philadelphia chromosome-positivity or bcr/abl rearrangement with isolated thrombocytosis should be diagnosed as CML, not ET, according to World Health Or...

  14. Kinetics of del(7q) driven leukemogenesis in a patient with JAK2 V617F and TET2 mutated chronic myeloproliferative neoplasm

    DEFF Research Database (Denmark)

    Herborg, Laura Laine; Nederby, Line; Kjeldsen, Eigil

    2013-01-01

    Chronic myeloid neoplasms have susceptibility to transform into acute myeloid leukemia due to attainment of additional molecular lesions. We here describe the kinetics of a del(7q) driven leukemogenesis in a patient with multiple TET2 mutations and JAK2 V617F mutated chronic myeloproliferative...... neoplasm. The del(7q) emerged in the accelerated phase of disease, which was preceded by a lag phase of almost three years with normalized peripheral blood cell counts. Our results reveal that the del(7q), independently of other lesions, acts as a leukemic driver in this patient and that the stable long...

  15. Neoplasms of the hard palate.

    Science.gov (United States)

    Aydil, Utku; Kızıl, Yusuf; Bakkal, Faruk Kadri; Köybaşıoğlu, Ahmet; Uslu, Sabri

    2014-03-01

    Although the most common neoplastic lesion of the oral cavity is squamous cell carcinoma (SCC), primary neoplastic lesions of the hard palate have not been systematically reviewed to date. The aim of this study was to determine the histopathologic composition and characteristics of neoplasms of the hard palate. A retrospective analysis of 66 patients with a primary neoplasm of the hard palate managed at the authors' institution from 1985 through 2012 was performed. Demographic features, malignancy rate, histopathologic characteristics and distribution, TNM staging results, metastasis patterns, and management strategies were investigated. The sample was composed of 66 patients (mean age, 45.0 yr; 57.6% men). Neoplasms were benign in 57.6% of cases and malignant in 42.4%. Epithelial neoplasms and mesenchymal neoplasms were encountered in 52 patients (78.8%) and 14 patients (21.2%), respectively. Minor salivary gland tumors (MSGTs) were the most common histopathologic group (60.6%), followed by benign mesenchymal tumors (15.2%), SCCs (12.1%), malignant melanomas (6.1%), lymphomas (3.0%), and sarcomas (3.0%). Although 75.0% of malignant epithelial neoplasms were at an advanced stage, there were no pN+ SCC or malignant MSGT cases at presentation. The most common neoplasms of the hard palate were MSGTs. SCCs were relatively rare in this series. Although three-fourths of neoplasms were at an advanced stage, neck metastasis was not a characteristic of malignant epithelial neoplasms located in the hard palate. Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  16. Incidence and survival of lymphohematopoietic neoplasms according to the World Health Organization classification: a population-based study from the Victorian Cancer Registry in Australia.

    Science.gov (United States)

    Jayasekara, Harindra; Karahalios, Amalia; Juneja, Surender; Thursfield, Vicky; Farrugia, Helen; English, Dallas R; Giles, Graham G

    2010-03-01

    We studied the incidence and relative survival of 39 837 cases of lymphohematopoietic neoplasms (LHN) reported to the Victorian Cancer Registry during 1982-2004, classified according to the World Health Organization (WHO) classification. We modeled excess mortality using Poisson regression to estimate differences in survival by age, sex, and time period. Age-standardized incidence rates varied across subtypes of lymphoid and myeloid neoplasms. All major subtypes predominantly affected the elderly except Hodgkin lymphoma (incidence peaks at 20-24 and 75-79 years) and acute lymphoblastic leukemia (0-9 years). After an initial rise, overall lymphoid and myeloid incidence stabilized in the mid-1990s. The 5-year relative survival was 58% for lymphoid and 35% for myeloid neoplasms. Survival improved during 1990-2004 for diffuse large B-cell lymphoma, follicular lymphoma, acute myeloid leukemia, chronic myeloid leukemia, and myelodysplastic syndromes (p  < 0.001) and declined with advancing age for all subtypes (p <  0.001). Female sex was associated with higher survival for most myeloid subtypes. The results represent a rare epidemiological characterization of the whole range of LHN according to WHO subtypes.

  17. Cystic Neoplasms of the Pancreas.

    Science.gov (United States)

    Chandwani, Rohit; Allen, Peter J

    2016-01-01

    Cystic neoplasms of the pancreas are being identified at an increasing frequency largely due to the increased use of abdominal cross-sectional imaging. These neoplasms represent a heterogeneous group of tumors with various genetic alterations, molecular features, and risks of malignancy. Despite the use of high-resolution radiographic studies, endoscopic evaluation, cyst fluid analysis, and novel molecular diagnostics, many of these lesions remain difficult to classify without operative resection. These diagnostic challenges are coupled with an improving but limited understanding of the natural history of these neoplasms. Treatment of pancreatic cystic neoplasms therefore remains controversial but consists largely of a selective tumor-specific approach to surgical resection. Future research remains necessary to better discriminate the biological behavior of these tumors in order to more appropriately select patients for operative intervention.

  18. Therapy-related myelodysplastic syndrome: morphologic subclassification may not be clinically relevant.

    Science.gov (United States)

    Singh, Zeba N; Huo, Dezheng; Anastasi, John; Smith, Sonali M; Karrison, Theodore; Le Beau, Michelle M; Larson, Richard A; Vardiman, James W

    2007-02-01

    In practice, cases of therapy-related myelodysplastic syndrome (t-MDS) are often classified according to morphologic schemes used for de novo MDS. However, there are few data addressing the appropriateness of such classification. We studied 155 patients with therapy-related acute myeloid leukemia (t-AML)/t-MDS to determine whether subclassification by the World Health Organization (WHO) criteria for de novo MDS provides prognostic information in t-MDS. In addition, we assessed whether cytogenetic stratification by the International Prognostic Scoring System (IPSS) guidelines or karyotypic complexity was prognostically important. We found no differences in median survival times among patients classified into the different WHO subgroup of MDS or according to their bone marrow blast percentage; our results indicate a uniformly poor outcome in t-MDS regardless of morphologic classification. However, significant survival differences correlated with cytogenetic stratification according to IPSS guidelines and/or karyotypic complexity. We found only a borderline difference in median survival of patients with an initial t-MDS diagnosis compared with patients with an initial t-AML diagnosis.

  19. 10 CFR 35.457 - Therapy-related computer systems.

    Science.gov (United States)

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Therapy-related computer systems. 35.457 Section 35.457 Energy NUCLEAR REGULATORY COMMISSION MEDICAL USE OF BYPRODUCT MATERIAL Manual Brachytherapy § 35.457 Therapy-related computer systems. The licensee shall perform acceptance testing on the treatment planning...

  20. Imaging findings of isolated myeloid sarcoma of the stomach in a nonleukemic child: A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yong Kyun; Kim, Jung Hyun; Baek, Hee Jo; Heo, Suk Hee [Dept. of Radiology, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju (Korea, Republic of); Kim, Jin Woong; Shin, Sang Soo [Dept. of Radiology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun (Korea, Republic of)

    2017-01-15

    Myeloid sarcoma is an extramedullary solid neoplasm composed of myeloid precursor cells. This tumor usually occurs simultaneously with or following the onset of acute leukemia. Rarely, it can be the first manifestation of acute myeloid leukemia. The tumor can occur anywhere in the body. However, primary involvement of the stomach without evidence of leukemia is exceedingly rare, and to the best of our knowledge, imaging features of isolated myeloid sarcoma of the stomach have not been reported in children. This case illustrates the imaging appearances of isolated myeloid sarcoma that initially manifested as gastric submucosal wall thickening and discusses the differential diagnosis, in a 15-year-old girl without evidence of hematologic malignancy.

  1. Secondary neoplasms after stereotactic radiosurgery.

    Science.gov (United States)

    Patel, Toral R; Chiang, Veronica L S

    2014-01-01

    The use of medical radiation has increased 6-fold in the past 30 years. Within neurosurgery, the advent of stereotactic radiosurgery (SRS) has significantly altered the treatment paradigm for both benign and malignant central nervous system diseases. With this increased reliance on radiation has come a responsibility to identify the long-term risks, including the potential development of radiation-induced neoplasms. Although the data regarding traditional radiation exposure and its subsequent risks are well-defined, the data for SRS is less developed. We reviewed the published literature to more accurately define the risk of developing secondary neoplasms after stereotactic radiosurgery. A total of 36 cases of SRS-induced neoplasms were identified. More than half of the cases had an initial diagnosis of vestibular schwannoma. Overall, the risk of developing an SRS-induced neoplasm is approximately 0.04% at 15 years. The risk of developing an SRS-induced neoplasm is low but not zero. Thus, long-term surveillance imaging is advised for patients treated with SRS. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. The Danish National Chronic Myeloid Neoplasia Registry

    Directory of Open Access Journals (Sweden)

    Bak M

    2016-10-01

    Full Text Available Marie Bak,1 Else Helene Ibfelt,2 Thomas Stauffer Larsen,3 Dorthe Rønnov-Jessen,4 Niels Pallisgaard,5 Ann Madelung,6 Lene Udby,1 Hans Carl Hasselbalch,1 Ole Weis Bjerrum,7 Christen Lykkegaard Andersen1,7 1Department of Hematology, Zealand University Hospital, University of Copenhagen, Roskilde, 2Research Centre for Prevention and Health, Rigshospitalet Glostrup, University of Copenhagen, Glostrup, 3Department of Hematology, Odense University Hospital, Odense, 4Department of Hematology, Vejle Hospital, Vejle, 5Department of Surgical Pathology, Zealand University Hospital, University of Copenhagen, Roskilde, 6Department of Surgical Pathology, Zealand University Hospital, University of Copenhagen, Næstved, 7Department of Hematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark Aim: The Danish National Chronic Myeloid Neoplasia Registry (DCMR is a population-based clinical quality database, introduced to evaluate diagnosis and treatment of patients with chronic myeloid malignancies. The aim is to monitor the clinical quality at the national, regional, and hospital departmental levels and serve as a platform for research. Study population: The DCMR has nationwide coverage and contains information on patients diagnosed at hematology departments from January 2010 onward, including patients with essential thrombocythemia, polycythemia vera, myelofibrosis, unclassifiable myeloproliferative neoplasms, chronic myelomonocytic leukemia, and chronic myeloid leukemia. Main variables: Data are collected using standardized registration forms (so far up to four forms per patient, which are consecutively filled out online at time of diagnosis, after 2-year and 5-year follow-ups, and at end of follow-up. The forms include variables that describe clinical/paraclinical assessments, treatment, disease progression, and survival – disease-specific variables – as well as variables that are identical for all chronic myeloid malignancies. Descriptive

  3. Impact Of Mutation-derived Antigens In Immune Recognition Of Hematological Malignancies, Specifically Myeloid Dysplastic Syndromes (MDS)

    DEFF Research Database (Denmark)

    Saini, Sunil Kumar; Dorfmüller, S.; Bjerregaard, Anne-Mette

    2016-01-01

    Mutation-derived neoepitopes have been suggested as a major component for immune recognition of solid tumors with a high mutational load, e.g. Melanoma and Non-Small-Cell Lung Cancer (NSCLC). Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by increasin...

  4. Survival of patients with chronic myeloproliferative neoplasms and new primary cancers: a population-based cohort study.

    Science.gov (United States)

    Frederiksen, Henrik; Farkas, Dóra Körmendiné; Christiansen, Christian Fynbo; Larsen, Thomas Stauffer; Hasselbalch, Hans Carl; Stentoft, Jesper; Sørensen, Henrik Toft

    2015-07-01

    Patients with chronic myeloproliferative neoplasms are at increased risk of new solid or haematological cancers, but how prognosis is affected in patients with preceding myeloproliferative neoplasms is unclear. We used data from population-based medical databases in Denmark from 1980 to 2011 to compare survival between cancer patients with and without a preceding diagnosis of myeloproliferative neoplasm, matched for age, sex, year of diagnosis, and type of cancer. We assessed outcomes by cancer stage and comorbidities. Data were available for 1246 patients with a history of myeloproliferative neoplasms and we matched 5155 patients without a history of myeloproliferative neoplasm for comparison. Among patients with new localised solid cancers, 5-year survival was 49.8% (95% CI 39.1-59.6) for patients with preceding essential thrombocythaemia, 47·9% (42·1-53·4) for those with preceding polycythaemia vera, and 48.0% (34.1-60.7) for those with preceding chronic myeloid leukaemia. The values were 72.4% (68.4-76.0), 63.9% (61.5-66.2), and 74.3% (68.2-79.4), respectively, in matched patients without preceding myeloproliferative neoplasms. The risk of death among patients with a solid tumour and preceding myeloproliferative neoplasm was 1.21-2.28 times higher than in patients without myeloproliferative neoplasms. Excess mortality risk was observed irrespective of whether new cancers were diagnosed within 5 years or 5 years or more after myeloproliferative neoplasm. Preceding myeloproliferative neoplasm is a predictor for poor outlook in patients who develop new primary cancers. Lundbeck and Novo Nordisk Foundation Programme for Clinical Research Infrastructure, Danish Cancer Society, and Aarhus University Research Foundation. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Acute myeloid leukemia: conventional cytogenetics, FISH, and moleculocentric methodologies.

    Science.gov (United States)

    Morrissette, Jennifer J D; Bagg, Adam

    2011-12-01

    Acute myeloid leukemia (AML) is a complex group of hematologic neoplasms characterized by distinctive morphologic, immunophenotypic, and genetic abnormalities. However, it has become evident that genetic aberrations are central to the genesis of AML and have assumed an increasingly relevant role in the classification of AML. Here we discuss hallmark recurrent translocations that define specific World Health Organization (WHO) entities and other frequently encountered genetic aberrations that do not (yet) define specific entities. Additionally, we discuss emerging technologies and their application to the discovery of new abnormalities and to their potential role in the future diagnosis and classification of AML.

  6. Coexistence of myeloproliferative neoplasm and plasma-cell dyscrasia.

    Science.gov (United States)

    Malhotra, Jyoti; Kremyanskaya, Marina; Schorr, Emily; Hoffman, Ronald; Mascarenhas, John

    2014-02-01

    Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), and are characterized by clonal proliferation of hematopoietic cells in the bone marrow. There are numerous case reports and reviews reporting patients with coexisting MPN and plasma-cell disease such as multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS). We report 15 patients treated at our institution over a 5-year period (January 2008 to December 2012) with a diagnosis of both an MPN and MGUS or MM. We also reviewed and summarized published case reports and studies describing the coexistence of these two disease entities. Most patients (12/15) had an MPN diagnosis made before or at the same time as the MGUS/MM diagnosis. Eventually, 2 patients developed a lymphoid leukemia, 1 patient developed lymphoma, and 1 patient developed acute myeloid leukemia, raising the question of whether patients with coexistence of myeloid- and lymphoid-derived neoplasms are more prone to leukemic or lymphomatous transformation. We did not find any treatment-related effect that could have contributed to the development of coexisting MGUS or MM and MPN. Of the 7 patients with an abnormal karyotype, 3 patients had trisomy 8. At present, management strategies are aimed at treating the MPN and regularly monitoring the MGUS for transformation to an overt plasma-cell malignancy. However, for patients who develop overt MM, management is focused more on treating the myeloma and monitoring the MPN. It has not yet been definitively shown that these 2 entities arise from a common-ancestor hematopoietic stem cell. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. FLT3 mutations in myeloproliferative neoplasms: the Beaumont experience.

    Science.gov (United States)

    Williams, Lindsay; Kelley, Harlan H; Meng, Xiuling; Prada, Anne; Crisan, Domnita

    2013-09-01

    FLT3 is one of the most frequently mutated genes in acute myeloid leukemia. Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. The goal of our study is to evaluate the mutational status of the FLT3 gene in patients with an MPN or MDS/MPN, in correlation with the JAK2 mutational status. Patient specimens were retrospectively identified on the basis of MPN or MDS/MPN diagnosis and JAK2 analysis from February 2006 to December 2011. FLT3 mutation analysis was performed on DNA extracted from 152 patients using polymerase chain reaction amplification and analysis of amplicons by gel electrophoresis for internal tandem duplication mutations and by restriction endonuclease digestion fragment analysis for the D835 point mutation. FLT3 mutation analysis was performed on 90 cases of JAK2-negative MPN or MDS/MPN and 62 cases of JAK2-positive MPN. One FLT3 internal tandem duplication mutation was identified in the JAK2-negative group (1.1%), and none were identified in the JAK2-positive group, confirming the absence of FLT3 mutations in JAK2-positive specimens. The FLT3-positive MPN patient was diagnosed with MPN, unclassifiable, and was later found to have myeloid sarcoma; thus, FLT3 mutation was not seen in the usual types of MPN in our series. Our result of 1.1% FLT3 mutations in JAK2-negative MPN and MDS/MPN cases is lower than the 9.2% previously reported.

  8. Molecular diagnostics of myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Langabeer, S. E.; Andrikovics, H.; Asp, J.

    2015-01-01

    Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been...

  9. Drugs Approved for Myeloproliferative Neoplasms

    Science.gov (United States)

    This page lists cancer drugs approved by the Food and Drug Administration (FDA) for myeloproliferative neoplasms. The list includes generic names, brand names, and common drug combinations, which are shown in capital letters. The drug names link to NCI's Cancer Drug Information summaries.

  10. Raman spectroscopy of skin neoplasms

    Science.gov (United States)

    Moryatov, A. A.; Kozlov, S. V.; Kaganov, O. I.; Orlov, A. E.; Zaharov, V. P.; Batrachenko, I. A.; Artemiev, D. N.; Blinov, N. V.

    2017-09-01

    Skin melanoma is spread inhomogeneously worldwide, particularly in Samara region there are high figures of skin neoplasms sick rate as well—18.6%. Research goal: to develop a new method of early non-invasive differential diagnostics of skin neoplasms. Registration of Raman spectrum was implemented in the distance of 3-4 mm, the spectrum registration from pathologically changed zone was subsequently conducted, then from healthy skin zone. The test time for 1 patient was no longer than 3-5 min. In a range of experiments ex vivo there were the following results: melanoma—24, basal cell cancer—25, squamosus cell sarcinoma—7, nevus pigmentosis—9, other malignant neoplasms—6; in vivo: melanoma—9, basal cell cancer—8, nevus pigmentosis—2, other benign neoplasms—2. The first results of the research dedicated to studying permissive opportunities of Raman spectroscopy, with successive two-phase analysis of received parameters display high efficiency of method of differential diagnostic for skin melanoma and other malignant neoplasms, pigment and benign skin neoplasms. Safety and rapidity of the research reveal a high potential of the technique.

  11. Enhancing Targeted Therapy for Myeloproliferative Neoplasms

    Science.gov (United States)

    2013-10-01

    Myeloproliferative Neoplasms PRINCIPAL INVESTIGATOR: Gary W. Reuther CONTRACTING...2. REPORT TYPE Annual 3. DATES COVERED 30 2012-2 2013 4. TITLE AND SUBTITLE Enhancing Targeted Therapy for Myeloproliferative Neoplasms ...AVAILABILITY STATEMENT Approved for Public Release; Distribution Unlimited 13. SUPPLEMENTARY NOTES 14. ABSTRACT Myeloproliferative neoplasms

  12. 9 CFR 311.11 - Neoplasms.

    Science.gov (United States)

    2010-01-01

    ... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Neoplasms. 311.11 Section 311.11... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.11 Neoplasms. (a) An individual organ or other part of a carcass affected with a neoplasm shall be condemned. If there is evidence...

  13. Defining the Thrombotic Risk in Patients with Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Fabrizio Vianello

    2011-01-01

    Full Text Available Polycythemia vera (PV and essential thrombocythemia (ET are two Philadelphia-negative myeloproliferative neoplasms (MPN associated with an acquired mutation in the JAK2 tyrosine kinase gene. There is a rare incidence of progression to myelofibrosis and myeloid metaplasia in both disorders, which may or may not precede transformation to acute myeloid leukemia, but thrombosis is the main cause of morbidity and mortality. The pathophysiology of thrombosis in patients with MPN is complex. Traditionally, abnormalities of platelet number and function have been claimed as the main players, but increased dynamic interactions between platelets, leukocytes, and the endothelium do probably represent a fundamental interplay in generating a thrombophilic state. In addition, endothelial dysfunction, a well-known risk factor for vascular disease, may play a role in the thrombotic risk of patients with PV and ET. The identification of plasma markers translating the hemostatic imbalance in patients with PV and ET would be extremely helpful in order to define the subgroup of patients with a significant clinical risk of thrombosis.

  14. Chronic Myeloid Leukemia

    Science.gov (United States)

    ... around the eyes {{ Nausea and vomiting {{ Muscle cramps {{ Diarrhea {{ Rash {{ Chronic fatigue {{ Possible cardiac effects (see page 22 for ... be seen by a doctor who specializes in pediatric leukemia. See the free LLS ... Myeloid Leukemia I page 33 Fertility, Pregnancy and ...

  15. Synchronous pancreatic solid pseudopapillary neoplasm and intraductal papillary mucinous neoplasm.

    Science.gov (United States)

    Hirabayashi, Kenichi; Zamboni, Giuseppe; Ito, Hiroyuki; Ogawa, Masami; Kawaguchi, Yoshiaki; Yamashita, Tomohiro; Nakagohri, Toshio; Nakamura, Naoya

    2013-06-07

    Solid pseudopapillary neoplasm (SPN) is a rare and low-grade malignant pancreatic neoplasm composed of poorly cohesive monomorphic neoplastic cells forming solid and pseudopapillary structures with frequent hemorrhagic-cystic degeneration. Intraductal papillary mucinous neoplasm (IPMN) is a pancreatic exocrine tumor composed of intraductal papillary growth of mucin containing neoplastic cells in the main pancreatic duct or its major branches. In the case presented here, a 53-year-old, Japanese man was found to have multiple cystic lesions and dilatation of the main pancreatic duct in the neck of the pancreas. Histological examination revealed a main-duct and branch-duct type IPMN, of the gastric-type, involving the neck of the pancreas, associated with a 0.5 cm SPN in the caudal side of the IPMN. We diagnosed this case as synchronous SPN and IPMN. As far as we know, only one other case of synchronous SPN and IPMN has been reported. Both the present case and the previously reported case showed abnormal nuclear expression of β-catenin in SPN, whereas IPMN showed no abnormal nuclear expression. These results suggest that β-catenin abnormality is not a common pathogenetic factor of synchronous SPN and IPMN.

  16. Flow Cytometry of Nonhematopoietic Neoplasms.

    Science.gov (United States)

    Pillai, Vinodh; Dorfman, David M

    2016-01-01

    Many epithelial neoplasms can be analyzed by flow cytometry (FC), particularly from serous cavity effusion samples, using EpCAM, a cell adhesion molecule expressed on most normal epithelial cells and expressed at a higher level in most epithelial neoplasms. A simple 3-color flow cytometric panel can provide a high sensitivity and specificity compared to cytomorphology. FC provides more rapid immunophenotyping than conventional immunohistochemical staining, can identify rare malignant cells that could be missed by a cytological exam alone, and can be utilized to evaluate limited samples such as cerebrospinal fluid or fine-needle aspiration samples. Flow cytometric analysis for epithelial antigens can be combined with DNA ploidy analysis or assessment of the nucleus-to-cytoplasm ratio. Panels of flow cytometric markers are useful for the assessment of pediatric nonhematopoietic neoplasms, including neuroblastomas, primitive neuroectodermal tumors, Wilms' tumor, rhabdomyosarcomas, germ cell tumors, and hemangiopericytomas, as well as small-round-blue-cell tumors in adults, including small-cell carcinomas. © 2016 S. Karger AG, Basel.

  17. Cystic Neoplasms of the Pancreas

    Science.gov (United States)

    Tran Cao, Hop S.; Kellogg, Benjamin; Lowy, Andrew M.; Bouvet, Michael

    2015-01-01

    Whereas pancreatic duct adenocarcinoma (PDA) is a well-studied (but still poorly understood) disease with a dismal prognosis, cystic neoplasms of the pancreas form a more recently recognized group of pancreatic tumors. They are diverse and variable in their pathologic characteristics, clinical course, and outcomes,1–3 although all portend a better overall prognosis than PDA. In recent years, with the improved sensitivity and increasing use of cross-sectional imaging in clinical practice, these lesions are more commonly identified,4 with many being discovered incidentally. Indeed, large radiological series using computed tomography (CT) or magnetic resonance imaging (MRI) have reported detection rates of pancreatic cystic lesions between 1.2% and almost 20%,5,6 approaching the 24.3% prevalence rate in an autopsy series by Kimura and colleagues.7 Although most of these lesions are pseudocysts, a significant portion consist of cystic neoplasms, which are estimated to represent 10% to 15% of all primary pancreatic cystic lesions.8 Given the growing clinical relevance of these tumors, a keen understanding of their natural history and pathophysiology is needed. This article reviews pancreatic cystic neoplasms, with a focus on the challenges encountered in their diagnosis and treatment. PMID:20159515

  18. [Neuroendocrine neoplasms of the breast].

    Science.gov (United States)

    Anlauf, M; Neumann, M; Bomberg, S; Luczak, K; Heikaus, S; Gustmann, C; Antke, C; Ezziddin, S; Fottner, C; Pavel, M; Pape, U-F; Rinke, A; Lahner, H; Schott, M; Cremer, B; Hörsch, D; Baum, R P; Groh, U; Alkatout, I; Rudlowski, C; Scheler, P; Zirbes, T K; Hoffmann, J; Fehm, T; Gabbert, H E; Baldus, S E

    2015-05-01

    Neuroendocrine neoplasms (NEN) of the breast are specific tumor entities. According to the literature up to 5% of breast neoplasms are malignant epithelial neoplasms of the breast. They are defined by a neuroendocrine (NE) architecture and cytology combined with an expression of the neuroendocrine vesicle markers chromogranin A and/or synaptophysin. The diagnosis is supplemented by the receptor status and the proliferative activity. According to the World Health Organization (WHO) classification of 2012 the following groups of NEN are distinguished: (1) invasive breast carcinoma with NE differentiation, (2) well-differentiated neuroendocrine tumor (NET) and (3) poorly differentiated small cell carcinoma (NEC). This review article focuses on (1) the definition and basic principles of diagnostics, (2) the history, nomenclature and WHO classification from 2003 and 2012, (3) the frequency of breast NEN, (4) the hereditary background and functional activity, (5) the expression of receptors and (6) the possible clinical implications. In addition, the first results of a retrospective single center study (n = 465 patients with breast cancer over a time period of 4 years) on the frequency of NEN of the breast at the Breast Center of the University Hospital Düsseldorf are presented. In this study a frequency of 4.5% of NEN was found based on a diagnostic cut-off of > 50% Chromogranin A and/or synaptophysin positive tumor cells.

  19. Genetics Home Reference: chronic myeloid leukemia

    Science.gov (United States)

    ... Home Health Conditions Chronic myeloid leukemia Chronic myeloid leukemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Chronic myeloid leukemia is a slow-growing cancer of the blood- ...

  20. Testicular myeloid sarcoma: case report

    Directory of Open Access Journals (Sweden)

    Luzia Beatriz Ribeiro Zago

    2013-01-01

    Full Text Available Myeloid sarcomas are extramedullary solid tumors composed of immature granulocytic precursor cells. In association with acute myeloid leukemia and other myeloproliferative disorders, they may arise concurrently with compromised bone marrow related to acute myeloid leukemia, as a relapsed presentation, or occur as the first manifestation. The testicles are considered to be an uncommon site for myeloid sarcomas. No therapeutic strategy has been defined as best but may include chemotherapy, radiotherapy and/or hematopoietic stem cell transplantation. This study reports the evolution of a patient with testicular myeloid sarcoma as the first manifestation of acute myeloid leukemia. The patient initially refused medical treatment and died five months after the clinical condition started.

  1. The association of bladder myeloid sarcoma and unclassified myelodysplastic/myeloproliferative disease

    Directory of Open Access Journals (Sweden)

    Mehmet Sönmez

    2009-06-01

    Full Text Available Myeloid sarcoma of the urinary bladder is a rare disorder. We report a 71-year-old man with hematuria who had a diffuse myeloid sarcoma of the bladder. He was also under follow-up for unclassified myeloproliferative/myelodysplastic disorder, diagnosed two months before. Abdominal ultrasonography and computed tomography findings were normal. Diagnostic cystoscopy revealed patchy areas of mucosal swelling with hyperemia. Histopathological examination of biopsies demonstrated a neoplasm composed of blasts showing myeloperoxidase positivity by immunohistochemistry. To our knowledge, the current case is the first case of myeloid sarcoma in the urinary bladder without evidence of a mass lesion, with a concurrent diagnosis of unclassifiable myelodysplastic/myeloproliferative disease.

  2. Myb expression is critical for myeloid leukemia development induced by Setbp1 activation.

    Science.gov (United States)

    Nguyen, Nhu; Vishwakarma, Bandana A; Oakley, Kevin; Han, Yufen; Przychodzen, Bartlomiej; Maciejewski, Jaroslaw P; Du, Yang

    2016-12-27

    SETBP1 missense mutations have been frequently identified in multiple myeloid neoplasms; however, their oncogenic potential remains unclear. Here we show that expression of Setbp1 mutants carrying two such mutations in mouse bone marrow progenitors efficiently induced development of acute myeloid leukemias (AMLs) in irradiated recipient mice with significantly shorter latencies and greater penetrance than expression of wild-type Setbp1, suggesting that these mutations are highly oncogenic. The increased oncogenicity of Setbp1 missense mutants could be due in part to their capability to drive significantly higher target gene transcription. We further identify Myb as a critical mediator of Setbp1-induced self-renewal as its knockdown caused efficient differentiation of myeloid progenitors immortalized by wild-type Setbp1 and Setbp1 missense mutants. Interestingly, Myb is also a direct transcriptional target of Setbp1 and Setbp1 missense mutants as they directly bind to the Myb locus in immortalized cells and dramatically activate a critical enhancer/promoter region of Myb in luciferase reporter assays. Furthermore, Myb knockdown in Setbp1 and Setbp1 missense mutations-induced AML cells also efficiently induced their differentiation in culture and significantly prolonged the survival of their secondary recipient mice, suggesting that targeting MYB pathway could be a promising strategy for treating human myeloid neoplasms with SETBP1 activation.

  3. Genomics of Acute Myeloid Leukemia Diagnosis and Pathways.

    Science.gov (United States)

    Bullinger, Lars; Döhner, Konstanze; Döhner, Hartmut

    2017-03-20

    In recent years, our understanding of the molecular pathogenesis of myeloid neoplasms, including acute myeloid leukemia (AML), has been greatly advanced by genomics discovery studies that use novel high-throughput sequencing techniques. AML, similar to most other cancers, is characterized by multiple somatically acquired mutations that affect genes of different functional categories, a complex clonal architecture, and disease evolution over time. Patterns of mutations seem to follow specific and temporally ordered trajectories. Mutations in genes encoding epigenetic modifiers, such as DNMT3A, ASXL1, TET2, IDH1, and IDH2, are commonly acquired early and are present in the founding clone. The same genes are frequently found to be mutated in elderly individuals along with clonal expansion of hematopoiesis that confers an increased risk for the development of hematologic cancers. Furthermore, such mutations may persist after therapy, lead to clonal expansion during hematologic remission, and eventually lead to relapsed disease. In contrast, mutations involving NPM1 or signaling molecules (eg, FLT3, RAS) typically are secondary events that occur later during leukemogenesis. Genetic data are now being used to inform disease classification, risk stratification, and clinical care of patients. Two new provisional entities, AML with mutated RUNX1 and AML with BCR- ABL1, have been included in the current update of the WHO classification of myeloid neoplasms and AML, and mutations in three genes- RUNX1, ASXL1, and TP53-have been added in the risk stratification of the 2017 European LeukemiaNet recommendations for AML. Integrated evaluation of baseline genetics and assessment of minimal residual disease are expected to further improve risk stratification and selection of postremission therapy. Finally, the identification of disease alleles will guide the development and use of novel molecularly targeted therapies.

  4. Gastrointestinal Surgery of Neuroendocrine Neoplasms

    DEFF Research Database (Denmark)

    Hansen, Carsten Palnæs; Olsen, Ingrid Marie Holst; Knigge, Ulrich

    2015-01-01

    Surgery is the only treatment that may cure the patient with gastroenteropancreatic (GEP) neuroendocrine neoplasms (NENs) and should always be considered as the first-line treatment if radical resection can be achieved. Even in cases where radical surgery is not possible, palliative resection may...... be performed to reduce local or hormone-induced symptoms and to improve quality of life. The surgical procedures for GEP-NENs are accordingly described below. In most patients life-long follow-up is required, even following radical surgery, as recurrence may occur several years later....

  5. The Spindle Cell Neoplasms of the Oral Cavity

    OpenAIRE

    SHAMIM, Thorakkal

    2015-01-01

    Spindle cell neoplasms are defined as neoplasms that consist of spindle-shaped cells in the histopathology. Spindle cell neoplasms can affect the oral cavity. In the oral cavity, the origin of the spindle cell neoplasms may be traced to epithelial, mesenchymal and odontogenic components. This article aims to review the spindle cell neoplasms of the oral cavity with emphasis on histopathology.

  6. Risk Factors for Metachronous Gastric Neoplasms in Patients Who Underwent Endoscopic Resection of a Gastric Neoplasm.

    Science.gov (United States)

    Yoon, Hyuk; Kim, Nayoung; Shin, Cheol Min; Lee, Hye Seung; Kim, Bo Kyoung; Kang, Gyeong Hoon; Kim, Jung Mogg; Kim, Joo Sung; Lee, Dong Ho; Jung, Hyun Chae

    2016-03-01

    To identify the risk factors for metachronous gastric neoplasms in patients who underwent an endoscopic resection of a gastric neoplasm. We prospectively collected clinicopathologic data and measured the methylation levels of HAND1, THBD, APC, and MOS in the gastric mucosa by methylation-specific real-time polymerase chain reaction in patients who underwent endoscopic resection of gastric neoplasms. A total of 257 patients with gastric neoplasms (113 low-grade dysplasias, 25 highgrade dysplasias, and 119 early gastric cancers) were enrolled. Metachronous gastric neoplasm developed in 7.4% of patients during a mean follow-up of 52 months. The 5-year cumulative incidence of metachronous gastric neoplasm was 4.8%. Multivariate analysis showed that moderate/severe corpus intestinal metaplasia and family history of gastric cancer were independent risk factors for metachronous gastric neoplasm development; the hazard ratios were 4.12 (95% confidence interval [CI], 1.23 to 13.87; p=0.022) and 3.52 (95% CI, 1.09 to 11.40; p=0.036), respectively. The methylation level of MOS was significantly elevated in patients with metachronous gastric neoplasms compared age- and sex-matched patients without metachronous gastric neoplasms (p=0.020). In patients who underwent endoscopic resection of gastric neoplasms, moderate/severe corpus intestinal metaplasia and a family history of gastric cancer were independent risk factors for metachronous gastric neoplasm, and MOS was significantly hypermethylated in patients with metachronous gastric neoplasms.

  7. [Second neoplasms after percutaneous radiotherapy].

    Science.gov (United States)

    Haidl, F; Pfister, D; Semrau, R; Heidenreich, A

    2017-03-01

    Radiation therapy represents an alternative treatment to radical prostatectomy in the management of clinically localized prostate cancer. Radiation-induced second neoplasms are defined by a latency period of at least 5 years, location within the field of radiation therapy, and a histology which differs from the primary tumor. Based on the data in the literature, there is a consistently increased risk of bladder cancer (HR: 1.67, 95% CI 1.55-1.80), rectal cancer (HR: 1.79, 95% CI 1.34-2.38), and colorectal cancer (HR: 1.79, 95% CI 1.34-23.8) following percutaneous radiation therapy. Following brachytherapy only an increased for the development of bladder cancer (HR: 2.14, 95% CI 1.03-3.94) has been observed. The incidence of second neoplasms increases significantly and continuously with the posttreatment time interval. Although bladder cancers following RT of the prostate are usually more locally advanced and of high grade, no negative impact in terms of overall survival and cancer-specific survival has been observed. Symptoms or findings of microhematuria need to be examined thoroughly after radiation therapy to identify bladder cancer quite early.

  8. Therapy-related myelodysplastic syndrome after successful treatment of acute promyelocytic leukemia: case report and literature review

    Directory of Open Access Journals (Sweden)

    Cîrstea Mihaela

    2017-04-01

    Full Text Available In the 2016 revision of the World Health Organization classification the term therapy-related myeloid neoplasia (t-MN defines a subgroup of acute myeloid leukemia (AML comprising patients who develop myelodysplastic syndrome (MDS-t or acute myeloid leukemia (AML-t after treatment with cytotoxic and/or radiation therapy for various malignancies or autoimmune disorders. We report the case of a 36 year old patient with t-MN (t-MDS after achieving complete remission (CR of a PML-RARA positive acute promyelocytic leukemia (APL at 32 months after diagnosis. Initially classified as low risk APL and treated according to the AIDA protocol - induction and 3 consolidation cycles - the patient achieved a complete molecular response in September 2013 and started maintenance therapy. On follow-up PML-RARA transcript remained negative. In January 2016 leukopenia and thrombocytopenia developed and a peripheral blood smear revealed hypogranular and agranular neutrophils. Immunophenotyping in the bone marrow aspirate identified undifferentiated blast cells that did not express cytoplasmic myeloperoxidase. The cytogenetic study showed normal karyotype. The molecular biology tests not identified PMLRARA transcript. A diagnosis of t-MDS (AREB-2 - WHO 2008 was established. Treatment of AML was started with 2 “3+7” regimens and 1 MEC cycle. Two months from diagnosis, while in CR, an allogeneic HSCT from an unrelated HLA compatible donor was performed after myeloablative regimen. An unfavorable clinical evolution was followed by death on day 9 after transplantation. The occurrence of t-MNs during CR of APL represents a particular problem in terms of follow-up and differential diagnosis of relapse and constitutes a dramatic complication for a disease with a favorable prognosis.

  9. Stages of Plasma Cell Neoplasms (Including Multiple Myeloma)

    Science.gov (United States)

    ... Treatment Health Professional Plasma Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma Cell Neoplasms Go to Health Professional Version Key ...

  10. ERYTHEMA NODOSUM REVEALING ACUTE MYELOID LEUKEMIA

    Directory of Open Access Journals (Sweden)

    Chebbi Wafa

    2013-07-01

    Full Text Available Introduction: Erythema nodosum (EN is the most common type of panniculitis. It may be idiopathic or secondary to various etiologies. However, the occurrence of erythema nodosum in malignant hemopathy had rarely been reported. Case report: A 42 year-old woman presented with a four week history of recurrent multiple painful erythematous nodules developed on the lower limbs associated with arthralgia of the ankles and fever. The clinical features of skin lesions with contusiform color evolution allowed establishing the diagnosis of EN. No underlying cause was found. The skin lesions were improved with non-steroidal anti-inflammatory drugs and colchicine. Three months later, the patient consulted for recurrence of EN associated with fever, inflammatory polyarthralgia and hepatosplenomegaly. The peripheral blood count revealed pancytopenia. A bone marrow examination confirmed the diagnosis of acute myeloid leukemia type 2. Initiation of chemotherapy was followed by the complete disappearance of skin lesions of EN. Conclusion: Paraneoplastic erythema nodosum is a rare entity. In the literature, a few cases of association with leukemia have been reported. Exploration for solid neoplasms or hemopathy in case of recurrent EN or resistance to conventional treatment should be systematic

  11. Ultrasonography a useful adjunctive in management of thyroid neoplasms

    OpenAIRE

    Latoo, Manzoor; Lateef, Mohammed; Kirmani, Omar

    2007-01-01

    Fine needle aspiration cytology has been the gold standard of diagnosis in case of thyroid neoplasm. However ultrasonography of thyroid neoplasm is a useful guide for an operating thyroid surgeon. We in our study evaluated patients of thyroid neoplasm with USG thyroid & studied its role in the therapeutic management of neoplasm. In our study of 10 patients of thyroid neoplasm we found USG of the thyroid neoplasm as a valuable guide in management.

  12. A prognostic model of therapy-related myelodysplastic syndrome for predicting survival and transformation to acute myeloid leukemia.

    Science.gov (United States)

    Quintás-Cardama, Alfonso; Daver, Naval; Kim, Hawk; Dinardo, Courtney; Jabbour, Elias; Kadia, Tapan; Borthakur, Gautam; Pierce, Sherry; Shan, Jianqin; Cardenas-Turanzas, Marylou; Cortes, Jorge; Ravandi, Farhad; Wierda, William; Estrov, Zeev; Faderl, Stefan; Wei, Yue; Kantarjian, Hagop; Garcia-Manero, Guillermo

    2014-10-01

    We evaluated the characteristics of a cohort of patients with myelodysplastic syndrome (MDS) related to therapy (t-MDS) to create a prognostic model. We identified 281 patients with MDS who had received previous chemotherapy and/or radiotherapy for previous malignancy. Potential prognostic factors were determined using univariate and multivariate analyses. Multivariate Cox regression analysis identified 7 factors that independently predicted short survival in t-MDS: age ≥ 65 years (hazard ratio [HR], 1.63), Eastern Cooperative Oncology Group performance status 2-4 (HR, 1.86), poor cytogenetics (-7 and/or complex; HR, 2.47), World Health Organization MDS subtype (RARs or RAEB-1/2; HR, 1.92), hemoglobin (HR, 2.24), platelets (HR, 2.01), and transfusion dependency (HR, 1.59). These risk factors were used to create a prognostic model that segregated patients into 3 groups with distinct median overall survival: good (0-2 risk factors; 34 months), intermediate (3-4 risk factors; 12 months), and poor (5-7 risk factors; 5 months) (P < .001) and 1-year leukemia-free survival (96%, 84%, and 72%, respectively, P = .003). This model also identified distinct survival groups according to t-MDS therapy. In summary, we devised a prognostic model specifically for patients with t-MDS that predicted overall survival and leukemia-free survival. This model might facilitate the development of risk-adapted therapeutic strategies. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. A Case of Therapy-Related Acute Myeloid Leukemia Associated with Adjuvant Temozolomide Chemotherapy for Anaplastic Astrocytoma.

    Science.gov (United States)

    Kosugi, Kenzo; Saito, Katsuya; Takahashi, Wataru; Tokuda, Yukina; Tomita, Hideyuki

    2017-05-01

    Temozolomide (TMZ) is now standard adjuvant therapy in combination with radiotherapy for patients with newly diagnosed malignant glioma. Treatment-related myelodysplastic syndrome and acute treatment-related leukemia (t-AML) associated with TMZ chemotherapy for patients with glioma is quite a rare complication. A 43-year-old man with an anaplastic astrocytoma received radiation therapy synchronized with ranimustine and adjuvant TMZ chemotherapy for 15 cycles. Close follow-up magnetic resonance imaging of the head during TMZ chemotherapy showed no evidence of tumor progression. One year after the completion of TMZ chemotherapy, a bone-marrow aspiration was performed because the patient's white blood cell count decreased. He was diagnosed with t-AML based on the bone marrow examination, and then he was referred to the cancer center for the treatment of t-AML. In this case study, we continued adjuvant TMZ therapy beyond the recommended 6 cycles. Currently, there is no consensus as to how long the adjuvant TMZ therapy should be continued for the treatment of residual tumor showing no apparent interval change. A new decision-making tool to assess the clinical benefits against the side effects for long-term adjuvant TMZ therapy is needed. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Knockdown of miR-128a induces Lin28a expression and reverts myeloid differentiation blockage in acute myeloid leukemia.

    Science.gov (United States)

    De Luca, Luciana; Trino, Stefania; Laurenzana, Ilaria; Tagliaferri, Daniela; Falco, Geppino; Grieco, Vitina; Bianchino, Gabriella; Nozza, Filomena; Campia, Valentina; D'Alessio, Francesca; La Rocca, Francesco; Caivano, Antonella; Villani, Oreste; Cilloni, Daniela; Musto, Pellegrino; Del Vecchio, Luigi

    2017-06-01

    Lin28A is a highly conserved RNA-binding protein that concurs to control the balance between stemness and differentiation in several tissue lineages. Here, we report the role of miR-128a/Lin28A axis in blocking cell differentiation in acute myeloid leukemia (AML), a genetically heterogeneous disease characterized by abnormally controlled proliferation of myeloid progenitor cells accompanied by partial or total inability to undergo terminal differentiation. First, we found Lin28A underexpressed in blast cells from AML patients and AML cell lines as compared with CD34+ normal precursors. In vitro transfection of Lin28A in NPM1-mutated OCI-AML3 cell line significantly triggered cell-cycle arrest and myeloid differentiation, with increased expression of macrophage associate genes (EGR2, ZFP36 and ANXA1). Furthermore, miR-128a, a negative regulator of Lin28A, was found overexpressed in AML cells compared with normal precursors, especially in acute promyelocytic leukemia (APL) and in 'AML with maturation' (according to 2016 WHO classification of myeloid neoplasms and acute leukemia). Its forced overexpression by lentiviral infection in OCI-AML3 downregulated Lin28A with ensuing repression of macrophage-oriented differentiation. Finally, knockdown of miR-128a in OCI-AML3 and in APL/AML leukemic cells (by transfection and lentiviral infection, respectively) induced myeloid cell differentiation and increased expression of Lin28A, EGR2, ZFP36 and ANXA1, reverting myeloid differentiation blockage. In conclusion, our findings revealed a new mechanism for AML differentiation blockage, suggesting new strategies for AML therapy based upon miR-128a inhibition.

  15. [Chronic myeloid leukemia].

    Science.gov (United States)

    Usui, Noriko

    2014-06-01

    More than 10 years have passed since imatinib as a first developed BCR-ABL tyrosine kinase inhibitor (TKI) introduced in treatment of patients with chronic myeloid leukemia (CML). In globally, there are tremendous numbers of patients on imatinib therapy. Based upon randomized trials comparing second generation TKIs such as dasatinib and nilotinib versus imatinib, both TKIs produce faster and deeper response than imatinib and they can be selected as first-line therapy for newly diagnosed chronic phase of CML (CP-CML) as imatinib. Bosutinib is a potent for imatinib resistant/intolerant CP-CML and can be used as second or third-line therapy. Ponatinib is the only clinically available TKI that has activity against the T315 mutation that is resistant to all other TKIs. Currently, a choice among these potent TKIs should take into consideration the drug side effect profiles and the patient's comorbidities.

  16. Bone morbidity in chronic myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Farmer, Sarah; Ocias, Lukas Frans; Vestergaard, Hanne

    2015-01-01

    Patients with the classical Philadelphia chromosome-negative chronic myeloproliferative neoplasms including essential thrombocythemia, polycythemia vera and primary myelofibrosis often suffer from comorbidities, in particular, cardiovascular diseases and thrombotic events. Apparently, there is al...... mastocytosis (SM) where pathogenic mechanisms for bone manifestations probably involve effects of mast cell mediators on bone metabolism, the mechanisms responsible for increased fracture risk in other chronic myeloproliferative neoplasms are not known........ Chronic inflammation has been suggested to explain the initiation of clonal development and progression in chronic myeloproliferative neoplasms. Decreased bone mineral density and enhanced fracture risk are well-known manifestations of many chronic systemic inflammatory diseases. As opposed to systemic...

  17. Acute Myeloid Leukemia in Childhood

    OpenAIRE

    Yöntem, Ahmet; Bayram, İbrahim

    2018-01-01

    Acute leukemia is basically divided intoacute lymphoblastic leukemia and acute myeloid leukemia. About 15-20% ofchildhood leukemia is caused by acute myeloid leukemia.AML is classified according to morphological, cytochemical and immunophenotypiccharacteristics. AML patients may present with various clinical signsand symptoms due to leukemic cell infiltration. Age, gender, race, structuralfeatures of the patient and cytogenetic abnormalities are important factorsaffecting prognosis in AML. Th...

  18. Cytokine Regulation of Microenvironmental Cells in Myeloproliferative Neoplasms

    Science.gov (United States)

    Hoermann, Gregor; Greiner, Georg; Valent, Peter

    2015-01-01

    The term myeloproliferative neoplasms (MPN) refers to a heterogeneous group of diseases including not only polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), but also chronic myeloid leukemia (CML), and systemic mastocytosis (SM). Despite the clinical and biological differences between these diseases, common pathophysiological mechanisms have been identified in MPN. First, aberrant tyrosine kinase signaling due to somatic mutations in certain driver genes is common to these MPN. Second, alterations of the bone marrow microenvironment are found in all MPN types and have been implicated in the pathogenesis of the diseases. Finally, elevated levels of proinflammatory and microenvironment-regulating cytokines are commonly found in all MPN-variants. In this paper, we review the effects of MPN-related oncogenes on cytokine expression and release and describe common as well as distinct pathogenetic mechanisms underlying microenvironmental changes in various MPN. Furthermore, targeting of the microenvironment in MPN is discussed. Such novel therapies may enhance the efficacy and may overcome resistance to established tyrosine kinase inhibitor treatment in these patients. Nevertheless, additional basic studies on the complex interplay of neoplastic and stromal cells are required in order to optimize targeting strategies and to translate these concepts into clinical application. PMID:26543328

  19. Pathogenesis of Myeloproliferative Neoplasms: Role and Mechanisms of Chronic Inflammation

    Directory of Open Access Journals (Sweden)

    Sylvie Hermouet

    2015-01-01

    Full Text Available Myeloproliferative neoplasms (MPNs are a heterogeneous group of clonal diseases characterized by the excessive and chronic production of mature cells from one or several of the myeloid lineages. Recent advances in the biology of MPNs have greatly facilitated their molecular diagnosis since most patients present with mutation(s in the JAK2, MPL, or CALR genes. Yet the roles played by these mutations in the pathogenesis and main complications of the different subtypes of MPNs are not fully elucidated. Importantly, chronic inflammation has long been associated with MPN disease and some of the symptoms and complications can be linked to inflammation. Moreover, the JAK inhibitor clinical trials showed that the reduction of symptoms linked to inflammation was beneficial to patients even in the absence of significant decrease in the JAK2-V617F mutant load. These observations suggested that part of the inflammation observed in patients with JAK2-mutated MPNs may not be the consequence of JAK2 mutation. The aim of this paper is to review the different aspects of inflammation in MPNs, the molecular mechanisms involved, the role of specific genetic defects, and the evidence that increased production of certain cytokines depends or not on MPN-associated mutations, and to discuss possible nongenetic causes of inflammation.

  20. Pathogenesis of Myeloproliferative Neoplasms: Role and Mechanisms of Chronic Inflammation

    Science.gov (United States)

    Bigot-Corbel, Edith; Gardie, Betty

    2015-01-01

    Myeloproliferative neoplasms (MPNs) are a heterogeneous group of clonal diseases characterized by the excessive and chronic production of mature cells from one or several of the myeloid lineages. Recent advances in the biology of MPNs have greatly facilitated their molecular diagnosis since most patients present with mutation(s) in the JAK2, MPL, or CALR genes. Yet the roles played by these mutations in the pathogenesis and main complications of the different subtypes of MPNs are not fully elucidated. Importantly, chronic inflammation has long been associated with MPN disease and some of the symptoms and complications can be linked to inflammation. Moreover, the JAK inhibitor clinical trials showed that the reduction of symptoms linked to inflammation was beneficial to patients even in the absence of significant decrease in the JAK2-V617F mutant load. These observations suggested that part of the inflammation observed in patients with JAK2-mutated MPNs may not be the consequence of JAK2 mutation. The aim of this paper is to review the different aspects of inflammation in MPNs, the molecular mechanisms involved, the role of specific genetic defects, and the evidence that increased production of certain cytokines depends or not on MPN-associated mutations, and to discuss possible nongenetic causes of inflammation. PMID:26538820

  1. Cytokine Regulation of Microenvironmental Cells in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Gregor Hoermann

    2015-01-01

    Full Text Available The term myeloproliferative neoplasms (MPN refers to a heterogeneous group of diseases including not only polycythemia vera (PV, essential thrombocythemia (ET, and primary myelofibrosis (PMF, but also chronic myeloid leukemia (CML, and systemic mastocytosis (SM. Despite the clinical and biological differences between these diseases, common pathophysiological mechanisms have been identified in MPN. First, aberrant tyrosine kinase signaling due to somatic mutations in certain driver genes is common to these MPN. Second, alterations of the bone marrow microenvironment are found in all MPN types and have been implicated in the pathogenesis of the diseases. Finally, elevated levels of proinflammatory and microenvironment-regulating cytokines are commonly found in all MPN-variants. In this paper, we review the effects of MPN-related oncogenes on cytokine expression and release and describe common as well as distinct pathogenetic mechanisms underlying microenvironmental changes in various MPN. Furthermore, targeting of the microenvironment in MPN is discussed. Such novel therapies may enhance the efficacy and may overcome resistance to established tyrosine kinase inhibitor treatment in these patients. Nevertheless, additional basic studies on the complex interplay of neoplastic and stromal cells are required in order to optimize targeting strategies and to translate these concepts into clinical application.

  2. Intraductal Tubulopapillary Neoplasm: A New Entity in the Spectrum of Pancreatic Intraductal Neoplasms.

    Science.gov (United States)

    Maghrebi, Houcine; Makni, Amin; Rhaeim, Rami; Zehani, Alia; Bensafta, Zoubeir

    2017-09-01

    Intraductal Tubulopapillary Neoplasms (ITPN) is a rare and new entity defined as an intraductal, grossly visible, tubule-forming epithelial neoplasm with high- grade dysplasia and ductal differentiation without overt production of mucin. Its clinical presentation can be varied, which makes the diagnosis quite challenging. In this report, we present a case of pancreatic ITPN and review the published work to learn clinicopathological, radiological features and treatment strategies of this recently proposed pancreatic neoplasm.

  3. Pathological and Molecular Evaluation of Pancreatic Neoplasms

    Science.gov (United States)

    Rishi, Arvind; Goggins, Michael; Wood, Laura D.; Hruban, Ralph H.

    2015-01-01

    Pancreatic neoplasms are morphologically and genetically heterogeneous and include wide variety of neoplasms ranging from benign to malignant with an extremely poor clinical outcome. Our understanding of these pancreatic neoplasms has improved significantly with recent advances in cancer sequencing. Awareness of molecular pathogenesis brings in new opportunities for early detection, improved prognostication, and personalized gene-specific therapies. Here we review the pathological classification of pancreatic neoplasms from their molecular and genetic perspective. All of the major tumor types that arise in the pancreas have been sequenced, and a new classification that incorporates molecular findings together with pathological findings is now possible (Table 1). This classification has significant implications for our understanding of why tumors aggregate in some families, for the development of early detection tests, and for the development of personalized therapies for patients with established cancers. Here we describe this new classification using the framework of the standard histological classification. PMID:25726050

  4. WHO classification 2008 of myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Madelung, Ann B; Bondo, Henrik; Stamp, Inger

    2015-01-01

    We examined the learning effect of a workshop for Danish hematopathologists led by an international expert regarding histological subtyping of myeloproliferative neoplasms (MPN). Six hematopathologists evaluated 43 bone marrow (BM) biopsies according to the WHO description (2008), blinded to clin...

  5. Cytokeratins in epithelia of odontogenic neoplasms

    NARCIS (Netherlands)

    Crivelini, MM; de Araujo, VC; de Sousa, SOM; de Araujo, NS

    Neoplasms and tumours related to the odontogenic apparatus may be composed only of epithelial tissue or epithelial tissue associated with odontogenic ectomesenchyme. The immunohistochemical detection of different cytokeratins (CKs) polypeptides and vimentin has made it easier to explain the

  6. RENAL DAMAGE WITH MALIGNANT NEOPLASMS

    Directory of Open Access Journals (Sweden)

    I. B. Kolina

    2015-01-01

    Full Text Available The relationship between renal damage and malignant neoplasms is one of the most actual problems of the medicine of internal diseases. Very often, exactly availability of renal damage determines the forecast of cancer patients. The range of renal pathologies associated with tumors is unusually wide: from the mechanical effect of the tumor or metastases on the kidneys and/or the urinary tract and paraneoplastic manifestations in the form of nephritis or amyloidosis to nephropathies induced with drugs or tumor lysis, etc. Thrombotic complications that develop as a result of exposure to tumor effects, side effects of certain drugs or irradiation also play an important role in the development of the kidney damage. The most frequent variants of renal damage observed in the practice of medical internists (therapists, urologists, surgeons, etc., as well as methods of diagnosis and treatment approaches are described in the article. Timely and successful prevention and treatment of tumor-associated nephropathies give hope for retaining renal functions, therefore, a higher life standard after completion of anti-tumor therapy. Even a shortterm episode of acute renal damage suffered by a cancer patient must be accompanied with relevant examination and treatment. In the caseof transformation of acute renal damage into the chronic kidney disease, such patients need systematic and weighted renoprotective therapy and correct dosing of nephrotoxic drugs.

  7. Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms

    DEFF Research Database (Denmark)

    Engelund Luna, Iben; Monrad, Nina; Binderup, Tina

    2016-01-01

    OBJECTIVE: Neuroendocrine neoplasms in the pancreas and duodenum with predominant or exclusive immunoreactivity for somatostatin (p-dSOMs) are rare, and knowledge on tumour biology, treatment, survival and prognostic factors is limited. This study aimes to describe clinical, pathological, and bio......OBJECTIVE: Neuroendocrine neoplasms in the pancreas and duodenum with predominant or exclusive immunoreactivity for somatostatin (p-dSOMs) are rare, and knowledge on tumour biology, treatment, survival and prognostic factors is limited. This study aimes to describe clinical, pathological...

  8. Ileocecal Intussusception Caused by an Appendiceal Neoplasm.

    Science.gov (United States)

    Chua, Terence C; Gill, Preetjote; Gill, Anthony J; Samra, Jaswinder S

    2016-04-01

    Mucinous appendiceal neoplasm occurs in less than 1% of appendicectomies. Majority of what is known in the literature is about pseudomyxoma peritonei, which exists as its disseminated form. Pictorial imagery of its pre-disseminated form is rarely observed. We present in a case report form a case of low-grade mucinous neoplasm of the appendix resulting in focal intussusception including images captured from this unique case that will become a learning case for readers of the journal.

  9. Acute Myeloid Leukemia (AML) (For Parents)

    Science.gov (United States)

    ... the Flu Vaccine? Eating Disorders Arrhythmias Acute Myeloid Leukemia (AML) KidsHealth > For Parents > Acute Myeloid Leukemia (AML) ... Treatment Coping en español Leucemia mieloide aguda About Leukemia Leukemia is a type of cancer that affects ...

  10. Treatment Options for Adult Acute Myeloid Leukemia

    Science.gov (United States)

    ... Treatment Childhood AML Treatment Research Adult Acute Myeloid Leukemia Treatment (PDQ®)–Patient Version General Information About Adult Acute Myeloid Leukemia Go to Health Professional Version Key Points Adult ...

  11. Stages of Adult Acute Myeloid Leukemia

    Science.gov (United States)

    ... Treatment Childhood AML Treatment Research Adult Acute Myeloid Leukemia Treatment (PDQ®)–Patient Version General Information About Adult Acute Myeloid Leukemia Go to Health Professional Version Key Points Adult ...

  12. Treatment Option Overview (Adult Acute Myeloid Leukemia)

    Science.gov (United States)

    ... Treatment Childhood AML Treatment Research Adult Acute Myeloid Leukemia Treatment (PDQ®)–Patient Version General Information About Adult Acute Myeloid Leukemia Go to Health Professional Version Key Points Adult ...

  13. General Information about Adult Acute Myeloid Leukemia

    Science.gov (United States)

    ... Treatment Childhood AML Treatment Research Adult Acute Myeloid Leukemia Treatment (PDQ®)–Patient Version General Information About Adult Acute Myeloid Leukemia Go to Health Professional Version Key Points Adult ...

  14. New Treatment Approved for Acute Myeloid Leukemia

    Science.gov (United States)

    ... 167596.html New Treatment Approved for Acute Myeloid Leukemia Vyxeos combines two previously approved drugs To use ... for certain high-risk types of acute myeloid leukemia (AML). AML is an aggressive blood cancer that ...

  15. Neurological Complications Of Chronic Myeloid Leukaemia: Any ...

    African Journals Online (AJOL)

    , of the neurological deficits complicating chronic myeloid leukaemia. Method: Using patients\\' case folders and haematological malignancy register all cases of chronic myeloid leukaemia seen in Jos University Teaching Hospital between July ...

  16. Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma.

    Science.gov (United States)

    Basturk, Olca; Berger, Michael F; Yamaguchi, Hiroshi; Adsay, Volkan; Askan, Gokce; Bhanot, Umesh K; Zehir, Ahmet; Carneiro, Fatima; Hong, Seung-Mo; Zamboni, Giuseppe; Dikoglu, Esra; Jobanputra, Vaidehi; Wrzeszczynski, Kazimierz O; Balci, Serdar; Allen, Peter; Ikari, Naoki; Takeuchi, Shoko; Akagawa, Hiroyuki; Kanno, Atsushi; Shimosegawa, Tooru; Morikawa, Takanori; Motoi, Fuyuhiko; Unno, Michiaki; Higuchi, Ryota; Yamamoto, Masakazu; Shimizu, Kyoko; Furukawa, Toru; Klimstra, David S

    2017-12-01

    Intraductal tubulopapillary neoplasm is a relatively recently described member of the pancreatic intraductal neoplasm family. The more common member of this family, intraductal papillary mucinous neoplasm, often carries genetic alterations typical of pancreatic infiltrating ductal adenocarcinoma (KRAS, TP53, and CDKN2A) but additionally has mutations in GNAS and RNF43 genes. However, the genetic characteristics of intraductal tubulopapillary neoplasm have not been well characterized. Twenty-two intraductal tubulopapillary neoplasms were analyzed by either targeted next-generation sequencing, which enabled the identification of sequence mutations, copy number alterations, and selected structural rearrangements involving all targeted (≥300) genes, or whole-exome sequencing. Three of these intraductal tubulopapillary neoplasms were also subjected to whole-genome sequencing. All intraductal tubulopapillary neoplasms revealed the characteristic histologic (cellular intraductal nodules of back-to-back tubular glands lined by predominantly cuboidal cells with atypical nuclei and no obvious intracellular mucin) and immunohistochemical (immunolabeled with MUC1 and MUC6 but were negative for MUC2 and MUC5AC) features. By genomic analyses, there was loss of CDKN2A in 5/20 (25%) of these cases. However, the majority of the previously reported intraductal papillary mucinous neoplasm-related alterations were absent. Moreover, in contrast to most ductal neoplasms of the pancreas, MAP-kinase pathway was not involved. In fact, 2/22 (9%) of intraductal tubulopapillary neoplasms did not reveal any mutations in the tested genes. However, certain chromatin remodeling genes (MLL1, MLL2, MLL3, BAP1, PBRM1, EED, and ATRX) were found to be mutated in 7/22 (32%) of intraductal tubulopapillary neoplasms and 27% harbored phosphatidylinositol 3-kinase (PI3K) pathway (PIK3CA, PIK3CB, INPP4A, and PTEN) mutations. In addition, 4/18 (18%) of intraductal tubulopapillary neoplasms had FGFR2

  17. Calreticulin Mutations in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Noa Lavi

    2014-10-01

    Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

  18. 8-Chloro-Adenosine in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia

    Science.gov (United States)

    2017-11-08

    Recurrent Adult Acute Myeloid Leukemia; Relapsed Adult Acute Myeloid Leukemia; Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome; Acute Myeloid Leukemia Arising From Previous Myeloproliferative Disorder

  19. Childhood Blastic Plasmacytoid Dendritic Cell Neoplasm Mimicking Acute Rheumatic Fever: Report of an Unusual Clinical Presentation and Review of Literature.

    Science.gov (United States)

    Rajkumari, Banashree Devi; Munikoty, Vinay; Sreedharanunni, Sreejesh; Jain, Richa; Sachdeva, Man Updesh Singh; Varma, Neelam

    2017-08-30

    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is very rarely diagnosed in children with less than 50 cases in the literature. We report a case of childhood BPDCN who mimicked acute rheumatic fever at presentation. Majority of the reported childhood BPDCN received acute lymphoblastic leukemia-like chemotherapy with/without stem cell therapy, whereas those who received acute myeloid leukemia-like therapy predominantly succumbed to disease or sepsis. Overall 68% of the patients were alive and achieved complete remission with an overall prognosis slightly better in children compared with adults. The case is reported due to its unique unusual clinical presentation and its rarity in pediatric population.

  20. Philadelphia chromosome-positive acute myeloid leukemia with masses and osteolytic lesions: finding of 18F-FDG PET/CT.

    Science.gov (United States)

    Su, Zhan; Wu, Fengyu; Hu, Weiyu; Liu, Xiaodan; Wu, Shaoling; Feng, Xianqi; Cui, Zhongguang; Yang, Jie; Wang, Zhenguang; Guan, Hongzai; Zhao, Hongguo; Wang, Wei; Zhao, Chunting; Peng, Jun

    2017-09-01

    Philadelphia chromosome-positive acute myeloid leukemia is controversial and difficult to distinguish from the blast phase of chronic myeloid leukemia. As a myeloid neoplasm, rare cases of this leukemia manifest multiple soft-tissue tumors or bone lytic lesions. In this paper, we describe a 49-year-old male patient who had an abrupt onset with sharp chest pain, fever, fatigue, emaciation, and splenomegaly. 18F-fluoro-deoxy-glucose positron emission tomography/computed tomography (18F-FDG PET/CT) result showed diffuse and uneven hypermetabolic lesions in the bone marrow with peripheral bone marrow expansion, multiple soft tissue neoplasms with high 18F-FDG uptake, and lytic bone lesions. Bone marrow smear and biopsy detected aberrant blast cells expressing myeloid rather than lymphoid immunophenotype marker. For the existence of Philadelphia chromosome and BCR-ABL1 fusion gene together with complex chromosome abnormalities, a diagnosis of Philadelphia-positive acute myeloid leukemia was made, although the type (de novo or blast crisis) remained unclear.

  1. Spontaneous acute subdural hematoma as the initial manifestation of chronic myeloid leukemia.

    Science.gov (United States)

    Abdulhamid, Mohamed M; Li, Yan Michael; Hall, Walter A

    2011-02-01

    Spontaneous acute subdural hematoma is rare and limited to sporadic case reports, associated with neoplasm, aneurysm, arteriovenous malformation and cocaine use. Subdural hematoma has also been reported in association with leukemic malignancies, either during therapy or after diagnosis. However, there are no reports of spontaneous acute subdural hematoma as the primary initial presenting manifestation of a chronic myeloid leukemia. Here we describe one case of a 53-year-old male that presented with severe right-sided headache and intermittent left-sided paresthesias. CT scan showed non-traumatic right-sided acute subdural hematoma. Further evaluation revealed that the patient had chronic myeloid leukemia. His peripheral white blood count normalized after Gleevec and hydroxyurea chemotherapy. Furthermore, he had no neurological deficits after his subdural collection was adequately evacuated.

  2. Frequency of extrapancreatic neoplasms in intraductal papillary mucinous neoplasm of the pancreas: implications for management.

    Science.gov (United States)

    Reid-Lombardo, Kaye M; Mathis, Kellie L; Wood, Christina M; Harmsen, William S; Sarr, Michael G

    2010-01-01

    To estimate the frequency of extrapancreatic neoplasms in patients with IPMN compared with those with ductal pancreatic cancer and a general referral population. Several studies have reported an increased risk of extrapancreatic neoplasms in patients with IPMN, but these studies focused only on those patients who underwent resection and excluded those patients treated nonoperatively. All patients diagnosed with IPMN at Mayo Clinic from 1994 to 2006 were identified. Two control groups consisting of Group 1-patients with a diagnosis of ductal pancreatic adenocarcinoma (1:1) and Group 2-a general referral population (3:1) were matched for gender and age at diagnosis, year of registration, and residence. Logistic regression was used to assess the risk of a diagnosis of extrapancreatic neoplasms among cases versus controls. There were 471 cases, 471 patients in Group 1, and 1413 patients in Group 2. The proportion of IPMN patients having any extrapancreatic neoplasm diagnosed before or coincident to the index date was 52% (95% CI, 47%-56%), compared with 36% (95% CI, 32%-41%) in Group 1 (P neoplasms most frequent in the IPMN group were colonic polyps (n = 114) and Barrett's neoplasia (n = 18). The most common malignant neoplasms were nonmelanoma skin (n = 35), breast (n = 24), prostate (n = 24), colorectal cancers (n = 19), and carcinoid neoplasms (n = 6). Patients with IPMN have increased risk of harboring extrapancreatic neoplasms. Based on the frequency of colonic polyps, screening colonoscopy should be considered in all patients with IPMN.

  3. Fatal cardiac tamponade as the first manifestation of acute myeloid leukemia.

    Science.gov (United States)

    Leptidis, John; Aloizos, Stavros; Chlorokostas, Panagiotis; Gourgiotis, Stavros

    2014-10-01

    Acute myeloid leukemia is a hemopoietic myeloid stem cell neoplasm. It is the most common acute leukemia affecting adults,and its incidence increases with age. Acute myeloid leukemia is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. As the leukemic cells keep filling the bone marrow, symptoms of the disease started to appear: fatigue, bleeding, increased frequency of infections, and shortness of breath. Cardiac tamponade or pericardial tamponade is an acute medical condition in which the accumulation of pericardial fluid prevents the function of the heart. Signs and symptoms include Beck triad (hypotension, distended neck veins, and muffled heart sounds), paradoxus pulses, tachycardia, tachypnea, and breathlessness. Pericardial effusion and cardiac tamponade are rare and severe complications of leukemia; they often develop during the radiation therapy, chemotherapy, or infections in the course of leukemia. This study sought to assess the fatal cardiac tamponade as the first manifestation of acute myeloid leukemia (AML). We found no reports in the literature linking these 2 clinical entities. Although the patient had no signs or diagnosis of AML previously, this case was remarkable for the rapidly progressive symptoms and the fatal outcome. The pericardial effusion reaccumulated rapidly after its initial drainage; it is a possible explanation that the leukemic cells interfered with cardiac activity or that they decreased their contractility myocytes secreting a toxic essence.

  4. Paraneoplastic Pemphigus and Autoimmune Blistering Diseases Associated with Neoplasm: Characteristics, Diagnosis, Associated Neoplasms, Proposed Pathogenesis, Treatment.

    Science.gov (United States)

    Kartan, Saritha; Shi, Vivian Y; Clark, Ashley K; Chan, Lawrence S

    2017-02-01

    Autoimmune paraneoplastic and neoplasm-associated skin syndromes are characterized by autoimmune-mediated cutaneous lesions in the presence of a neoplasm. The identification of these syndromes provides information about the underlying tumor, systemic symptoms, and debilitating complications. The recognition of these syndromes is particularly helpful in cases of skin lesions presenting as the first sign of the malignancy, and the underlying malignancy can be treated in a timely manner. Autoimmune paraneoplastic and neoplasm-associated bullous skin syndromes are characterized by blister formation due to an autoimmune response to components of the epidermis or basement membrane in the context of a neoplasm. The clinical manifestations, histopathology and immunopathology findings, target antigens, associated neoplasm, current diagnostic criteria, current understanding of pathogenesis, and treatment options for a selection of four diseases are reviewed. Paraneoplastic pemphigus manifests with clinically distinct painful mucosal erosions and polymorphic cutaneous lesions, and is often associated with lymphoproliferative neoplasm. In contrast, bullous pemphigoid associated with neoplasm presents with large tense subepidermal bullae of the skin, and mild mucosal involvement, but without unique clinical features. Mucous membrane pemphigoid associated with neoplasm is a disorder of chronic subepithelial blisters that evolve into erosions and ulcerations that heal with scarring, and involves stratified squamous mucosal surfaces. Linear IgA dermatosis associated with neoplasm is characterized by annularly grouped pruritic papules, vesicles, and bullae along the extensor surfaces of elbows, knees, and buttocks. Physicians should be aware that these autoimmune paraneoplastic and neoplasm-associated syndromes can manifest distinct or similar clinical features as compared with the non-neoplastic counterparts.

  5. Gemtuzumab Ozogamicin in Treating Patients With Acute Myeloid Leukemia

    Science.gov (United States)

    2017-07-28

    Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Promyelocytic Leukemia (M3); Recurrent Adult Acute Myeloid Leukemia

  6. [Pancreatic acinar neoplasms : Comparative molecular characterization].

    Science.gov (United States)

    Bergmann, F

    2016-11-01

    Pancreatic acinar cell carcinomas are biologically aggressive neoplasms for which treatment options are very limited. The molecular mechanisms of tumor initiation and progression are largely not understood and precursor lesions have not yet been identified. In this study, pancreatic acinar cell carcinomas were cytogenetically characterized as well as by molecular and immunohistochemical analyses. Corresponding investigations were carried out on pancreatic ductal adenocarcinomas and pancreatic neuroendocrine neoplasms augmented by functional analyses. We show that pancreatic acinar cell carcinomas display a microsatellite stable, chromosomal unstable genotype, characterized by recurrent chromosomal imbalances that clearly discriminate them from pancreatic ductal adenocarcinomas and neuroendocrine neoplasms. Based on findings obtained from comparative genomic hybridization, candidate genes could be identified, such as deleted in colorectal cancer (DCC) and c-MYC. Furthermore, several therapeutic targets were identified in acinar cell carcinomas and other pancreatic neoplasms, including epidermal growth factor receptor (EGFR), L1 cell adhesion molecule (L1CAM) and heat shock protein 90 (HSP90). Moreover, L1CAM was shown to play a significant role in the tumorigenesis of pancreatic ductal adenocarcinoma. Functional analyses in cell lines derived from pancreatic neuroendocrine neoplasms revealed promising anti-tumorigenic effects using EGFR and HSP90 inhibitors affecting the cell cycle and in the case of HSP90, regulating several other oncogenes. Finally, based on mutational analyses of mitochondrial DNA, molecular evidence is provided that acinar cell cystadenomas (or better cystic acinar transformation) represent non-clonal lesions, suggesting an inflammatory reactive non-neoplastic nature.

  7. CD200 Expression in Neuroendocrine Neoplasms.

    Science.gov (United States)

    Love, Jason E; Thompson, Kimberly; Kilgore, Mark R; Westerhoff, Maria; Murphy, Claire E; Papanicolau-Sengos, Antonios; McCormick, Kinsey A; Shankaran, Veena; Vandeven, Natalie; Miller, Faith; Blom, Astrid; Nghiem, Paul T; Kussick, Steven J

    2017-09-01

    CD200 expression has been well studied in hematopoietic malignancies; however, CD200 expression has not been well-characterized in neuroendocrine neoplasms. We examined CD200 expression in 391 neuroendocrine neoplasms from various anatomic sites. Tissue blocks containing pulmonary small cell carcinoma, pulmonary carcinoid, large cell neuroendocrine carcinoma, pancreatic neuroendocrine tumor, gastrointestinal carcinoid, and Merkel cell carcinoma were evaluated for CD200 expression by immunohistochemistry. A set of nonneuroendocrine carcinomas was stained for comparison. CD200 was expressed in 87% of the neuroendocrine neoplasms studied, including 60 of 72 (83%) pulmonary small cell carcinomas, 15 of 22 (68%) pulmonary carcinoids, three of four (75%) pulmonary large cell neuroendocrine carcinomas, 125 of 146 (86%) Merkel cell carcinomas, 79 of 83 (95%) gastrointestinal luminal carcinoids, and 56 of 60 (93%) pancreatic neuroendocrine tumors. Thirty-two of 157 (20%) nonneuroendocrine carcinomas expressed CD200. In gastrointestinal carcinoid and pancreatic neuroendocrine neoplasms, CD200 negativity correlated with higher grade. CD200 is a relatively sensitive marker of neuroendocrine neoplasms and represents a potential therapeutic target in these difficult-to-treat malignancies.

  8. Intraductal oncocytic papillary neoplasm of the pancreas: a case of a second neoplasm in a pancreas cancer survivor.

    Science.gov (United States)

    Garg, Mrinal S; Schuerle, Theresa; Liu, Yulin; Thakkar, Shyam J

    2015-01-31

    Cystic neoplasms, which are less common forms of exocrine pancreatic neoplasms, consist of mainly intraductal papillary mucinous neoplasms (IPMN) and mucinous cystic neoplasms. Mucinous cystic neoplasms, unlike IPMN, are not associated with ductal growth, are usually multilocular in nature, and have ovarian type stroma. Mucinous cystadenocarcinoma is a type of mucinous cystic neoplasm more commonly found in women. Intraductal oncocytic papillary neoplasms of the pancreas are the least common variant of IPMN. Despite this classification, intraductal oncocytic papillary neoplasms have been compared to mucinous cystic neoplasms in previous studies and the classification is still questioned. We report a rare case of an intraductal oncocytic papillary neoplasm of the pancreas occurring in a 52-year-old male with a prior history of surgically excised mucinous cystadenocarcinoma. This is the first known case of an intraductal oncocytic papillary neoplasm occurring after a prior pancreatic neoplasm. As the diagnosis of intraductal oncocytic papillary neoplasms are rare, having only a few case reports and small series on which to understand its disease process, it is imperative to discuss each case and detail possible correlations with other pancreatic cystic neoplasms as well as distinctions from its current association within IPMN.

  9. Pathology and Molecular Genetics of Pancreatic Neoplasms

    Science.gov (United States)

    Wood, Laura D.; Hruban, Ralph H.

    2014-01-01

    Cancer is fundamentally a genetic disease caused by the ac cumulation of somatic mutations in oncogenes and tumor suppressor genes. In the last decade, rapid advances in sequencing and bioinformatic technology led to an explosion in sequencing studies of cancer genomes, greatly expanding our knowledge of the genetic changes underlying a variety of tumor types. Several of these studies of cancer genomes have focused on pancreatic neoplasms, and cancers from the pancreas are some of the best characterized tumors at the genetic level. Pancreatic neoplasms encompass a wide array of clinical diseases, from benign cysts to deadly cancers, and the genetic alterations underlying neoplasms of the pancreas are similarly diverse. This new knowledge of pancreatic cancer genomes has deepened our understanding of tumorigenesis in the pancreas and has opened several promising new avenues for novel diagnostics and therapeutics. PMID:23187835

  10. Diagnostic Approach to Eosinophilic Renal Neoplasms

    Science.gov (United States)

    Kryvenko, Oleksandr N.; Jorda, Merce; Argani, Pedram; Epstein, Jonathan I.

    2015-01-01

    Context Eosinophilic renal neoplasms include a spectrum of solid and papillary tumors ranging from indolent benign oncocytoma to highly aggressive malignancies. Recognition of the correct nature of the tumor, especially in biopsy specimens, is paramount for patient management. Objective To review the diagnostic approach to eosinophilic renal neoplasms with light microscopy and ancillary techniques. Data Sources Review of the published literature and personal experience. Conclusions The following tumors are in the differential diagnosis of oncocytic renal cell neoplasm: oncocytoma, chromophobe renal cell carcinoma (RCC), hybrid tumor, tubulocystic carcinoma, papillary RCC, clear cell RCC with predominant eosinophilic cell morphology, follicular thyroid-like RCC, hereditary leiomyomatosis–associated RCC, acquired cystic disease–associated RCC, rhabdoid RCC, microphthalmia transcription factor translocation RCC, epithelioid angiomyolipoma, and unclassified RCC. In low-grade nonpapillary eosinophilic neoplasms, distinction between oncocytoma and low-grade RCC mostly rests on histomorphology; however, cytokeratin 7 immunostain may be helpful. In high-grade nonpapillary lesions, there is more of a role for ancillary techniques, including immunohistochemistry for cytokeratin 7, CA9, CD10, racemase, HMB45, and Melan-A. In papillary eosinophilic neoplasms, it is important to distinguish sporadic type 2 papillary RCC from microphthalmia transcription factor translocation and hereditary leiomyomatosis–associated RCC. Histologic and cytologic features along with immunohistochemistry and fluorescence in situ hybridization tests for TFE3 (Xp11.2) and TFEB [t(6;11)] are reliable confirmatory tests. Eosinophilic epithelial neoplasms with architecture, cytology, and/or immunoprofile not qualifying for either of the established types of RCC should be classified as unclassified eosinophilic RCC and arbitrarily assigned a grade (low or high). PMID:25357116

  11. Pediatric Hepatobiliary Neoplasms: An Overview and Update.

    Science.gov (United States)

    Yikilmaz, Ali; George, Michael; Lee, Edward Y

    2017-07-01

    Recent developments regarding the treatment of pediatric liver tumors have significantly improved patient care. Stimulated by collaboration between international pediatric groups, advances have been made in surgical techniques, transplantation options, and chemotherapy schemas. In light of this progress, clear understanding of the state-of-the-art imaging evaluation of hepatobiliary tumors has become even more integral to the effective management of children with hepatic neoplasms. The unique imaging features of hepatic neoplasms in the pediatric population, when coupled with supportive demographic data and laboratory findings, can lead to accurate diagnosis and proper treatment of hepatobiliary tumors. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Druggable cancer secretome: neoplasm-associated traits.

    Science.gov (United States)

    Narayanan, Ramaswamy

    2015-01-01

    The genome association databases provide valuable clues to identify novel targets for cancer diagnosis and therapy. Genes harboring phenotype-associated polymorphisms for neoplasm traits can be identified using diverse bioinformatics tools. The recent availability of various protein expression datasets from normal human tissues, including the body fluids, enables for baseline expression profiling of the cancer secretome. Chemoinformatics approaches can help identify drug-like compounds from the protein 3D structures. The National Center for Biotechnology Information (NCBI) Phenome Genome Integrator (PheGenI) tool was enriched for neoplasm-associated traits. The neoplasm genes were characterized using diverse bioinformatics tools for pathways, gene ontology, genome-wide association, protein expression and functional class. Chemogenomics analysis was performed using the canSAR protein annotation tool. The neoplasm-associated traits segregated into 1,305 genes harboring 2,837 single nucleotide polymorphisms (SNPs). Also identified were 65 open reading frames (ORFs) encompassing 137 SNPs. The neoplasm genes and the associated SNPs were classified into distinct tumor types. Protein expression in the secretome was seen for 913 of the neoplasm-associated genes, including 17 novel uncharacterized ORFs. Druggable proteins, including enzymes, transporters, channel proteins and receptors, were detected. Thirty-four novel druggable lead genes emerged from these studies, including seven cancer lead targets. Chemogenomics analysis using the canSAR protein annotation tool identified 168 active compounds (neoplasm genes in the body fluids. Among these, 7 most active lead compounds with drug-like properties (1-600 nM) were identified for the cancer lead targets, encompassing enzymes and receptors. Over seventy percent of the neoplasm trait-associated genes were detected in the body fluids, such as ascites, blood, tear, milk, semen, urine, etc. Ligand-based druggabililty analysis

  13. Pediatric Melanoma and Atypical Melanocytic Neoplasms.

    Science.gov (United States)

    Sreeraman Kumar, Radhika; Messina, Jane L; Reed, Damon; Navid, Fariba; Sondak, Vernon K

    2016-01-01

    Melanoma is uncommon in the pediatric age range, but is increasing in frequency and often presents with atypical features compared to the classic ABCDE criteria common to adult melanoma cases. Moreover, many melanocytic neoplasms in childhood pose diagnostic challenges to the pathologist, and sometimes cannot be unequivocally classified as benign nevi or melanoma. This chapter addresses the evaluation and management of pediatric patients with melanoma and atypical melanocytic neoplasms, including the roles of and unresolved questions surrounding sentinel lymph node biopsy, completion lymphadenectomy, adjuvant therapy, and treatment of advanced disease.

  14. Intraductal papillary mucinous neoplasms of the pancreas with concurrent pancreatic and periampullary neoplasms.

    Science.gov (United States)

    Sahora, K; Crippa, S; Zamboni, G; Ferrone, C; Warshaw, A L; Lillemoe, K; Mino-Kenudson, M; Falconi, M; Fernandez-del Castillo, C

    2016-02-01

    Intraductal papillary mucinous neoplasms (IPMN) have been reported to be associated with concurrent, distinct pancreatic ductal adenocarcinoma (con-PDAC) in about 8% (range, 4-10%) of resected branch duct (BD) lesions. In addition, other pancreatic and ampullary tumors are occasionally diagnosed with IPMN in patients undergoing pancreatic surgery. The objective of this study is to describe the prevalence, clinicopathologic characteristics and prognosis of IPMN with concurrent pancreatic and ampullary neoplasms, especially con-PDAC. The combined databases of pancreatic resections from the Massachusetts General Hospital and the Negrar Hospital, Italy, were analyzed for patients who had been diagnosed with IPMN and concurrent pancreatic or ampullary neoplasms. 2762 patients underwent pancreatic surgery from January 2000 to December 2012. Sixteen percent (n = 441) had pathologically confirmed IPMN and 11% of these (n = 50) had a different distinct synchronous pancreatic neoplasm. The majority of these, 62%, were con-PDAC, followed by neuroendocrine neoplasms (10%) and ampullary carcinoma (10%). Less frequently, mucinous (6%) as well as serous cystic neoplasms (6%), adenosquamous carcinoma (4%) and distal bile duct cancer (2%) were diagnosed. Among all patients with synchronous neoplasms, 66% harbored BD-IPMN, 28% combined IPMN and 6% main duct IPMN. Abdominal pain and/or jaundice were the leading symptoms in half of patients. IPMN, mainly BD-IPMN, are associated with con-PDAC in about 7% of patients and account for 62% of all concurrent pancreatic/ampullary neoplasms. Other synchronous neoplasms may be found sporadically with IPMN without a suspected association. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. Regulatory Myeloid Cells in Transplantation

    Science.gov (United States)

    Rosborough, Brian R.; Raïch-Regué, Dàlia; Turnquist, Heth R.; Thomson, Angus W.

    2013-01-01

    Regulatory myeloid cells (RMC) are emerging as novel targets for immunosuppressive (IS) agents and hold considerable promise as cellular therapeutic agents. Herein, we discuss the ability of regulatory macrophages (Mreg), regulatory dendritic cells (DCreg) and myeloid-derived suppressor cells (MDSC) to regulate alloimmunity, their potential as cellular therapeutic agents and the IS agents that target their function. We consider protocols for the generation of RMC and the selection of donor- or recipient-derived cells for adoptive cell therapy. Additionally, the issues of cell trafficking and antigen (Ag) specificity following RMC transfer are discussed. Improved understanding of the immunobiology of these cells has increased the possibility of moving RMC into the clinic to reduce the burden of current IS agents and promote Ag-specific tolerance. In the second half of this review, we discuss the influence of established and experimental IS agents on myeloid cell populations. IS agents believed historically to act primarily on T cell activation and proliferation are emerging as important regulators of RMC function. Better insights into the influence of IS agents on RMC will enhance our ability to develop cell therapy protocols to promote the function of these cells. Moreover, novel IS agents may be designed to target RMC in situ to promote Ag-specific immune regulation in transplantation and usher in a new era of immune modulation exploiting cells of myeloid origin. PMID:24092382

  16. [Acute myeloid Leukemia].

    Science.gov (United States)

    Braess, Jan

    2016-11-01

    Acute myeloid leukemia (AML) has been genetically characterized extensively and can now be subdivided into 9 to 11 pathogenetically different subtypes according to their profile of driver mutations. In clinical practice karyotyping and molecular analysis of NPM1, cEBPa and FLT3-ITD are required for treatment stratification and potentially genotype specific treatment. Some markers such as NPM1 not only offer prognostic information but can also serve as markers of minimal residual disease and thus have the potential to guide therapy in the future.The basis of curative treatment is intensive combination chemotherapy comprizing cytarabine and an anthracycline ("7 + 3" regimen). The prolonged duration of aplasia can be reduced significantly by accelerated therapy ("S-HAM" regimen). Following achievement of a complete remission patients with a low risk of relapse - based on genetic and clinical features - receive chemotherapy based consolidation therapy whereas high risk patients - and potentially also those with an intermediate risk - receive an allogeneic stem cell transplantation. Whereas adding the rather unspecific tyrosinekinase inhibitor sorafenib to standard treatment in unselected AML patients has not improved overall survival (OS), the addition of midostaurin to standard therapy in the selected group FLT3 mutated patients has resulted in a moderate but significant OS benefit.Real world data show that in patients below 50 years a cure rate of ca. 50 % can be achieved. However less than 10 % of patients above the age of 70 will be alive after five years even after intensive treatment. Therefore when curative and intensive treatment is deemed impossible the therapeutic standard in elderly and unfit patients used to be low-dose cytarabine with an average OS of 4 months. This has now been replaced by a new standard of care of hypomethylating agents - azacytidine and decitabine - which both achieve higher remission rates and show strong trends towards a prolonged OS

  17. Non-invasive imaging of retinal blood flow in myeloproliferative neoplasms

    DEFF Research Database (Denmark)

    Willerslev, Anne; Hansen, Mathias M; Klefter, Oliver Niels

    2017-01-01

    PURPOSE: To study the circulation in the retinal vessels in patients with blood dyscrasia due to myeloproliferative neoplasms using non-invasive retinal imaging. METHODS: Prospective consecutive case series of seven treatment-naïve patients with chronic myeloid leukaemia (n = 2), polycythemia vera...... (n = 4), essential thrombocytosis (n = 1) examined before and after cytoreductive treatment. We investigated retinal circulation with motion-contrast imaging, retinal oximetry and spectral-domain optical coherence tomography. RESULTS: Retinal venous blood velocity increased by 8.14% (CI95 3.67% to 12....... The retinopathy had resolved at follow-up in all patients. CONCLUSION: With non-invasive retinal imaging, we were able to demonstrate increased retinal venous blood velocity, increased retinal arterial blood oxygenation and normalization of intravascular reflectivity patterns after successful treatment...

  18. Intraductal papillary mucinous neoplasms of the pancreas: an updated experience

    National Research Council Canada - National Science Library

    Sohn, Taylor A; Yeo, Charles J; Cameron, John L; Hruban, Ralph H; Fukushima, Noriyoshi; Campbell, Kurtis A; Lillemoe, Keith D

    2004-01-01

    To update the authors' experience with intraductal papillary mucinous neoplasms (IPMNs) of the pancreas. IPMNs are intraductal mucin-producing cystic neoplasms of the pancreas with clear malignant potential...

  19. Neoplasms identified in free-flying birds

    Science.gov (United States)

    Siegfried, L.M.

    1983-01-01

    Nine neoplasms were identified in carcasses of free-flying wild birds received at the National Wildlife Health Laboratory; gross and microscopic descriptions are reported herein. The prevalence of neoplasia in captive and free-flying birds is discussed, and lesions in the present cases are compared with those previously described in mammals and birds.

  20. The new WHO nomenclature: lymphoid neoplasms.

    Science.gov (United States)

    Leclair, Susan J; Rodak, Bernadette F

    2002-01-01

    The development of the WHO classification of lymphoid neoplasms is a remarkable example of cooperation and communication between pathologists and oncologists from around the world. Joint classification committees of the major hematopathology societies will periodically review and update this classification, facilitating further progress in the understanding and treatment of hematologic malignancies.

  1. Philadelphia-negative chronic myeloproliferative neoplasms

    Directory of Open Access Journals (Sweden)

    Rosane Isabel Bittencourt

    2012-01-01

    Full Text Available Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-, although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molecular features. In 2005, the identification of a recurrent molecular abnormality characterized by a gain of function with a mutation in the gene encoding Janus kinase 2 (JAK2 paved the way for greater knowledge of the pathophysiology of myeloproliferative neoplasms. The JAK2 mutation is found in 90-98% of polycythemia vera and in about 50% essential thrombocytosis and primary myelofibrosis. In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation, LNK (a membrane-bound adaptor protein; IDH1/2 (isocitrate dehydrogenase 1/2 enzyme; ASXL1 (additional sex combs-like 1 genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases. Currently, polycythemia vera, essential thrombocytosis, myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia and mastocytosis are included in this group of myeloproliferative neoplasms, but are considered different situations with individualized diagnostic methods and treatment. This review updates pathogenic aspects, molecular genetic alterations, the fundamental criteria for diagnosis and the best approach for each of these entities.

  2. Myeloproliferative neoplasms in five multiple sclerosis patients

    DEFF Research Database (Denmark)

    Thorsteinsdottir, Sigrun; Bjerrum, Ole Weis

    2013-01-01

    The concurrence of myeloproliferative neoplasms (MPNs) and multiple sclerosis (MS) is unusual. We report five patients from a localized geographic area in Denmark with both MS and MPN; all the patients were diagnosed with MPNs in the years 2007-2012. We describe the patients' history and treatment...

  3. SNP Array in Hematopoietic Neoplasms: A Review

    Directory of Open Access Journals (Sweden)

    Jinming Song

    2015-12-01

    Full Text Available Cytogenetic analysis is essential for the diagnosis and prognosis of hematopoietic neoplasms in current clinical practice. Many hematopoietic malignancies are characterized by structural chromosomal abnormalities such as specific translocations, inversions, deletions and/or numerical abnormalities that can be identified by karyotype analysis or fluorescence in situ hybridization (FISH studies. Single nucleotide polymorphism (SNP arrays offer high-resolution identification of copy number variants (CNVs and acquired copy-neutral loss of heterozygosity (LOH/uniparental disomy (UPD that are usually not identifiable by conventional cytogenetic analysis and FISH studies. As a result, SNP arrays have been increasingly applied to hematopoietic neoplasms to search for clinically-significant genetic abnormalities. A large numbers of CNVs and UPDs have been identified in a variety of hematopoietic neoplasms. CNVs detected by SNP array in some hematopoietic neoplasms are of prognostic significance. A few specific genes in the affected regions have been implicated in the pathogenesis and may be the targets for specific therapeutic agents in the future. In this review, we summarize the current findings of application of SNP arrays in a variety of hematopoietic malignancies with an emphasis on the clinically significant genetic variants.

  4. Solid Pseudopapillary Neoplasm of the Pancreas

    African Journals Online (AJOL)

    Solid pseudopapillary neoplasm is a rare pancreatic tumour predominantly affecting young women. We present two cases in young female patients. Both tumours were surgically removed as abdominal masses, one from the pancreatic tail and the other posterior to the stomach with an unclear organ of origin. On gross ...

  5. Solid Pseudopapillary Neoplasm of the Pancreas | Waithaka ...

    African Journals Online (AJOL)

    Solid pseudopapillary neoplasm is a rare pancreatic tumour predominantly affecting young women. We present two cases in young female patients. Both tumours were surgically removed as abdominal masses, one from the pancreatic tail and the other posterior to the stomach with an unclear organ of origin. On gross ...

  6. CT features of abdominal plasma cell neoplasms

    Energy Technology Data Exchange (ETDEWEB)

    Monill, J.; Pernas, J.; Montserrat, E.; Perez, C.; Clavero, J.; Martinez-Noguera, A.; Guerrero, R.; Torrubia, S. [Universitat Autonoma de Barcelona, Hospital de Sant Pau, Barcelona (Spain)

    2005-08-01

    The aim of this study was to describe the CT features of abdominal plasma cell neoplasms. We reviewed CT imaging findings in 11 patients (seven men, four women; mean age 62 years) with plasma cell neoplasms and abdominal involvement. Helical CT of the entire abdomen and pelvis was performed following intravenous administration of contrast material. Images were analyzed in consensus by two radiologists. Diagnoses were made from biopsy, surgery and/or clinical follow-up findings. Multiple myeloma was found in seven patients and extramedullary plasmacytoma in four patients. All patients with multiple myeloma had multifocal disease with involvement of perirenal space (4/7), retroperitoneal and pelvic lymph nodes (3/7), peritoneum (3/7), liver (2/7), subcutaneous tissues (2/7) and kidney (1/7). In three of the four patients with extramedullary plasmacytoma, a single site was involved, namely stomach, vagina and retroperitoneum. In the fourth patient, a double site of abdominal involvement was observed with rectal and jejunal masses. Plasma cell neoplasm should be considered in the differential diagnosis of single or multiple enhancing masses in the abdomen or pelvis. Abdominal plasma cell neoplasms were most frequently seen as well-defined enhancing masses (10/11). (orig.)

  7. Pancreatic Mucinous Cystic Neoplasm Communicating with Main Pancreatic Duct: An Unrecognized Presentation of Pancreatic Mucinous Neoplasm?

    Science.gov (United States)

    Zhou, Weixun; Saam, Trustin; Zhou, Yihua; Trevino, Jose; Liu, Xiuli; Cao, Dengfeng; Lai, Jinping

    2017-12-01

    Mucinous cystic neoplasms (MCNs) and intraductal papillary mucinous neoplasms (IPMNs) are two well recognized entities of precursor cystic lesions of pancreatic duct adenocarcinoma. The characteristic features of MCNs are the lined mucinous epithelium with underlying ovarian-type stroma, but without communication with the ducts, while that for IPMNs are the communication with the ducts but without the underlying ovarian-type stroma. Here we report a case of MCN communicating with the main pancreatic duct in a 68-year-old woman. The initial radiographic diagnosis was pancreatic IPMN with main pancreatic involvement and this was also confirmed during gross examination. Histologically, the pancreatic cystic neoplasm was lined with mucinous epithelium with underlying ovarian-type of stroma. Immunohistochemical stains confirmed that the stroma cells were positive for ER, PR, alpha-inhibin and focally positive for CD10. The final pathologic diagnosis was pancreatic mucinous cystic neoplasm communicating with the main pancreatic duct. To the best of our knowledge, this is the second pathology confirmed case of MCN communicating with the main pancreatic duct. A careful gross examination and bivalvation of the main duct communicating with the cystic neoplasm helps render the correct diagnosis. If more cases are reported in the future, the MCN communicating with duct could become a new entity of pancreatic mucinous neoplasm. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

  8. Genetics Home Reference: cytogenetically normal acute myeloid leukemia

    Science.gov (United States)

    ... normal acute myeloid leukemia Cytogenetically normal acute myeloid leukemia Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer ...

  9. Community-acquired infections and their association with myeloid malignancies.

    Science.gov (United States)

    Titmarsh, Glen J; McMullin, Mary Frances; McShane, Charlene M; Clarke, Mike; Engels, Eric A; Anderson, Lesley A

    2014-02-01

    Antigenic stimulation is a proposed aetiologic mechanism for many haematological malignancies. Limited evidence suggests that community-acquired infections may increase the risk of acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). However, associations with other myeloid malignancies including chronic myeloid leukaemia (CML) and myeloproliferative neoplasms (MPNs) are unknown. Using the Surveillance, Epidemiology and End Result (SEER)-Medicare database, fourteen community-acquired infections were compared between myeloid malignancy patients [AML (n=8489), CML (n=3626) diagnosed 1992-2005; MDS (n=3072) and MPNs (n=2001) diagnosed 2001-2005; and controls (200,000 for AML/CML and 97,681 for MDS/MPN]. Odds ratios (ORs) and 95% confidence intervals were adjusted for gender, age and year of selection excluding infections diagnosed in the 13-month period prior to selection to reduce reverse causality. Risk of AML and MDS respectively, were significantly associated with respiratory tract infections, bronchitis (ORs 1.20 [95% CI: 1.14-1.26], 1.25 [95% CI: 1.16-1.36]), influenza (ORs 1.16 [95% CI: 1.07-1.25], 1.29 [95% CI: 1.16-1.44]), pharyngitis (ORs 1.13 [95% CI: 1.06-1.21], 1.22 [95% CI: 1.11-1.35]), pneumonia (ORs 1.28 [95% CI: 1.21-1.36], 1.52 [95% CI: 1.40-1.66]), sinusitis (ORs 1.23 [95% CI: 1.16-1.30], 1.25 [95% CI: 1.15-1.36]) as was cystitis (ORs 1.13 [95% CI: 1.07-1.18], 1.26 [95% CI: 1.17-1.36]). Cellulitis (OR 1.51 [95% CI: 1.39-1.64]), herpes zoster (OR 1.31 [95% CI: 1.14-1.50]) and gastroenteritis (OR 1.38 [95% CI: 1.17-1.64]) were more common in MDS patients than controls. For CML, associations were limited to bronchitis (OR 1.21 [95% CI: 1.12-1.31]), pneumonia (OR 1.49 [95% CI: 1.37-1.62]), sinusitis (OR 1.19 [95% CI: 1.09-1.29]) and cellulitis (OR 1.43 [95% CI: 1.32-1.55]) following Bonferroni correction. Only cellulitis (OR 1.34 [95% CI: 1.21-1.49]) remained significant in MPN patients. Many infections remained elevated when more than 6

  10. Spontaneous neoplasms in captive Virginia opossums ( Didelphis virginiana): a retrospective case series (1989-2014) and review of the literature.

    Science.gov (United States)

    Pope, Jenny P; Donnell, Robert L

    2017-05-01

    This retrospective project summarizes the types of neoplasms identified in Virginia opossums ( Didelphis virginiana) presented to the University of Tennessee, College of Veterinary Medicine (UTCVM) postmortem service in 1989-2014 and serves as a review of the literature. Of the 85 Virginia opossums identified from the UTCVM case database, there were 17 diagnoses of neoplasia from 12 cases (14%). These cases included 8 females, 2 males, and 2 neutered males. All opossums with known ages (11 of 12) were >2 y old. Pulmonary tumors, specifically minimally invasive or lepidic-predominant adenocarcinomas, were the most common diagnosis and accounted for 53% (9 of 17) of the neoplasms. Additional tumors included acute myeloid leukemia with eosinophil maturation, hepatic hemangiosarcoma, sarcoma (unknown origin), squamous cell carcinoma, disseminated mast cell tumor, trichoblastoma, thyroid adenoma, and an osteoma. These findings serve as a reference for the types of spontaneous neoplasms in Virginia opossums; based on these findings, neoplasia should be considered as a differential in mature captive Virginia opossums.

  11. A rare cutaneous adnexal neoplasm: cystic panfolliculoma.

    Science.gov (United States)

    Neill, Brett; Bingham, Colby; Braudis, Kara; Zurowski, Susan

    2016-12-01

    A cystic panfolliculoma is a benign follicular neoplasm which recapitulates several portions of the hair follicle. The patient was a 64-year-old Caucasian female who presented with a new growth on her right forearm. The lesion had slowly enlarged over the previous 11 months. She complained of it bleeding on several occasions and being very tender when touched. On exam was an 8 mm firm pink papule which appeared slightly eroded. The growth was excised in clinic. Histology showed a well-circumscribed neoplasm with foci of matrical, infundibular, inner and outer root sheath differentiation. A BerEp3 labeled focal areas of follicular germinative differentiation at the periphery of the proliferation. The lesion was narrowly excised in the available planes of section. The surgical site healed well and there are no residual symptoms from the tumor. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Intrathoracic neoplasms in the dog and cat

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Very little is known regarding the epidemiology, etiology, and mechanisms of spontaneous intrathoracic neoplasia in companion animals. Much of what we know or suspect about thoracic neoplasia in animals has been extrapolated from experimentally-induced neoplasms. Most studies of thoracic neoplasia have focused on the pathology of primary and metastatic neoplasms of the lung with little attention given to diagnostic and therapeutic considerations. Although the cited incidence rate for primary respiratory tract neoplasia is low, 8.5 cases per 100,000 dogs and 5.5 cases per 100,000 cats, intrathoracic masses often attract attention out of proportion to their actual importance since they are often readily visualized on routine thoracic radiographs.

  13. Solid and papillary neoplasm of the pancreas

    DEFF Research Database (Denmark)

    Jørgensen, L J; Hansen, A B; Burcharth, F

    1992-01-01

    In two cases of solid and papillary neoplasm of the pancreas (SPN), positive staining for argyrophil granules, chromogranin-A, neuron-specific enolase, chymotrypsin, alpha 1-antitrypsin, vimentin, cytokeratin, and estrogen receptors was present. Ultrastructurally, neurosecretory as well as zymoge......In two cases of solid and papillary neoplasm of the pancreas (SPN), positive staining for argyrophil granules, chromogranin-A, neuron-specific enolase, chymotrypsin, alpha 1-antitrypsin, vimentin, cytokeratin, and estrogen receptors was present. Ultrastructurally, neurosecretory as well...... as zymogenlike granules were demonstrated. Measurements of mean nuclear volume and volume-corrected mitotic index discriminated between SPN and well-differentiated ductal adenocarcinoma of the pancreas, with notably lower values being seen in SPN. Silver-stained nucleolar organizer region counts showed wide...

  14. [Surgical treatment of neoplasms in geriatric patients].

    Science.gov (United States)

    Piccolomini, A; Brandi, C; Vuolo, G; Verre, L; Roviello, F; Di Cosmo, L; Carli, A

    1994-04-01

    The Authors report their experience in the surgical management of cancer in the aged (over 65 year old patients), during the period 1988-1992 at the Istituto Policattedra di Scienze Chirurgiche, University of Siena. They consider colon and rectum, breast, stomach, pancreas and biliary tract neoplasms in relation to site, staging, emergency or delayed surgical treatment, and early postoperative results. Finally, they outline the frequently encountered problems in treating old patients and the most appropriate surgical approach.

  15. Mutations in Epigenetic Modifiers in Myeloid Malignancies and the Prospect of Novel Epigenetic-Targeted Therapy

    Directory of Open Access Journals (Sweden)

    Amir T. Fathi

    2012-01-01

    Full Text Available In the recent years, the discovery of a series of mutations in patients with myeloid malignancies has provided insight into the pathogenesis of myelodysplastic syndromes (MDSs, myeloproliferative neoplasms (MPNs, and acute myeloid leukemia (AML. Among these alterations have been mutations in genes, such as IDH1/2, TET2, DNMT3A, and EZH2, which appear to affect DNA and/or histone lysine methylation. Large clinical correlative studies are beginning to decipher the clinical importance, prevalence, and potential prognostic significance of these mutations. Additionally, burgeoning insight into the role of epigenetics in the pathogenesis of myeloid malignancies has prompted increased interest in development of novel therapies which target DNA and histone posttranslational modifications. DNA demethylating agents have been demonstrated to be clinically active in a subset of patients with MDS and AML and are used extensively. However, newer, more specific agents which alter DNA and histone modification are under preclinical study and development and are likely to expand our therapeutic options for these diseases in the near future. Here, we review the current understanding of the clinical importance of these newly discovered mutations in AML and MDS patients. We also discuss exciting developments in DNA methyltransferase inhibitor strategies and the prospect of novel histone lysine methyltransferase inhibitors.

  16. Second Neoplasms in Survivors of Childhood Cancer: Findings From the Childhood Cancer Survivor Study Cohort

    Science.gov (United States)

    Meadows, Anna T.; Friedman, Debra L.; Neglia, Joseph P.; Mertens, Ann C.; Donaldson, Sarah S.; Stovall, Marilyn; Hammond, Sue; Yasui, Yutaka; Inskip, Peter D.

    2009-01-01

    Purpose To review the reports of subsequent neoplasms (SNs) in the Childhood Cancer Survivor Study (CCSS) cohort that were made through January 1, 2006, and published before July 31, 2008, and to discuss the host-, disease-, and therapy-related risk factors associated with SNs. Patients and Methods SNs were ascertained by survivor self-reports and subsequently confirmed by pathology findings or medical record review. Cumulative incidence of SNs and standardized incidence ratios for second malignant neoplasms (SMNs) were calculated. The impact of host-, disease-, and therapy-related risk factors was evaluated by Poisson regression. Results Among 14,358 cohort members, 730 reported 802 SMNs (excluding nonmelanoma skin cancers). This represents a 2.3-fold increase in the number of SMNs over that reported in the first comprehensive analysis of SMNs in the CCSS cohort, which was done 7 years ago. In addition, 66 cases of meningioma and 1,007 cases of nonmelanoma skin cancer were diagnosed. The 30-year cumulative incidence of SMNs was 9.3% and that of nonmelanoma skin cancer was 6.9%. Risk of SNs remains elevated for more than 20 years of follow-up for all primary childhood cancer diagnoses. In multivariate analyses, risks differ by SN subtype, but include radiotherapy, age at diagnosis, sex, family history of cancer, and primary childhood cancer diagnosis. Female survivors whose primary childhood cancer diagnosis was Hodgkin's lymphoma or sarcoma and who received radiotherapy are at particularly increased risk. Analyses of risk associated with radiotherapy demonstrated different dose-response curves for specific SNs. Conclusion Childhood cancer survivors are at a substantial and increasing risk for SNs, including nonmelanoma skin cancer and meningiomas. Health care professionals should understand the magnitude of these risks to provide individuals with appropriate counseling and follow-up. PMID:19255307

  17. Immunoexpression of napsin A in renal neoplasms.

    Science.gov (United States)

    Zhu, Bing; Rohan, Stephen M; Lin, Xiaoqi

    2015-03-14

    Immunohistochemistry (IHC) for napsin A has been widely used to support a diagnosis of lung adenocarcinoma with high sensitivity. In this study, we evaluated immunoreactivity for napsin A in a broad spectrum of renal neoplasms by using tissue microarrays (TMA). Duplicate TMA of 159 surgically excised renal neoplasms of various types were constructed. IHC for napsin A was performed on TMAs with appropriate positive and negative controls. Napsin A was expressed in Acquired cystic disease associated renal cell carcinoma (RCC) (2/2, 100.0%), chromophobe RCC (5/45, 11.1%), clear cell RCC (10/23, 43.5%), clear cell papillary RCC (9/19, 47.4%), metanephric adenoma (3/3, 100.0%), oncocytoma (13/23, 56.5%), and papillary RCC (31/37, 83.8%). Expression of napsin A was not seen in mucinous tubular and spindle cell carcinoma (0/1, 0.0%), TFE/MITF RCC 0/1, 0.0%), and urothelial carcinoma (0/6, 0.0%). Napsin A is expressed in both common and rare sub-types of renal neoplasms with variable sensitivity. Based on our results, napsin A is not specific for lung adenocarcinoma. When a metastatic carcinoma of unknown primary is positive for napsin A, the differential diagnosis should include tumors of both renal and lung origin. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9558727831304717 .

  18. Endocrine neoplasms in familial syndromes of hyperparathyroidism.

    Science.gov (United States)

    Li, Yulong; Simonds, William F

    2016-06-01

    Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. Complications of the associated neoplasms are the major causes of morbidities and mortalities in these familial syndromes, e.g., parathyroid carcinoma in HPT-JT syndrome; thymic, bronchial, and enteropancreatic neuroendocrine tumors in MEN1; and medullary thyroid cancer and pheochromocytoma in MEN2A. Because of the different underlying mechanisms of neoplasia, these familial tumors may have different characteristics compared with their sporadic counterparts. Large-scale clinical trials are frequently lacking due to the rarity of these diseases. With technological advances and the development of new medications, the natural history, diagnosis, and management of these syndromes are also evolving. In this article, we summarize the recent knowledge on endocrine neoplasms in three familial hyperparathyroidism syndromes, with an emphasis on disease characteristics, molecular pathogenesis, recent developments in biochemical and radiological evaluation, and expert opinions on surgical and medical therapies. Because these familial hyperparathyroidism syndromes are associated with a wide variety of tumors in different organs, this review is focused on those endocrine neoplasms with malignant potential. © 2016 Society for Endocrinology.

  19. MR appearance of skeletal neoplasms following cryotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Richardson, M.L. [Dept. of Radiology SB-05, Washington Univ., Seattle, WA (United States); Lough, L.R. [Pitts Radiological Associates, Columbia, SC (United States); Shuman, W.P. [Dept. of Radiology, Medical Center Hospital of Vermont, Burlington, VT (United States); Lazerte, G.D. [Dept. of Pathology RC-72, Washington Univ., Medical Center Hospital of Vermont, Burlington, VT (United States); Conrad, E.U. [Dept. of Orthopedic Surgery RK-10, Washington Univ., Medical Center of Vermont, Burlington, VT (United States)

    1994-02-01

    Cryotherapy is an increasingly popular mode of therapy adjunctive to surgical curettage in the treatment of certain skeletal neoplasms, such as giant cell tumors or chondrosarcomas. The magnetic resonance (MR) findings following cryotherapy have not been previously reported. We reviewed the MR findings in seven patients with skeletal neoplasms following curettage and cryotherapy. In six cases we found a zone of varying thickness extending beyond the surgical margins, corresponding to an area of cryoinjury to medullary bone. This zone displayed low signal intensity on T1-weighted images and high signal intensity on T2-weighted images, consistent with the presence of marrow edema. This zone of edema almost certainly reflects underlying thermal osteonecrosis. This zone may vary in size and intensity over time as the area of cryoinjury evolves or resolves. MR is currently the imaging procedure of choice for follow-up of most musculoskeletal neoplasms. Knowledge of the MR findings following cryotherapy should help prevent confusion during the interpretation of follow-up MR examinations. (orig.)

  20. Acute myeloid leukemia in the era of precision medicine: recent advances in diagnostic classification and risk stratification.

    Science.gov (United States)

    Kansal, Rina

    2016-03-01

    Acute myeloid leukemia (AML) is a genetically heterogeneous myeloid malignancy that occurs more commonly in adults, and has an increasing incidence, most likely due to increasing age. Precise diagnostic classification of AML requires clinical and pathologic information, the latter including morphologic, immunophenotypic, cytogenetic and molecular genetic analysis. Risk stratification in AML requires cytogenetics evaluation as the most important predictor, with genetic mutations providing additional necessary information. AML with normal cytogenetics comprises about 40%-50% of all AML, and has been intensively investigated. The currently used 2008 World Health Organization classification of hematopoietic neoplasms has been proposed to be updated in 2016, also to include an update on the classification of AML, due to the continuously increasing application of genomic techniques that have led to major advances in our knowledge of the pathogenesis of AML. The purpose of this review is to describe some of these recent major advances in the diagnostic classification and risk stratification of AML.

  1. The Danish National Chronic Myeloid Neoplasia Registry

    DEFF Research Database (Denmark)

    Bak, Marie; Ibfelt, Else Helene; Stauffer Larsen, Thomas

    2016-01-01

    AIM: The Danish National Chronic Myeloid Neoplasia Registry (DCMR) is a population-based clinical quality database, introduced to evaluate diagnosis and treatment of patients with chronic myeloid malignancies. The aim is to monitor the clinical quality at the national, regional, and hospital...

  2. Pancreatic cystic neoplasms: a review of preoperative diagnosis and management*

    Science.gov (United States)

    Bai, Xue-li; Zhang, Qi; Masood, Noman; Masood, Waqas; Zhang, Yun; Liang, Ting-bo

    2013-01-01

    Pancreatic cystic neoplasms (PCNs) are a diverse group of neoplasms in the pancreas, and are more increasingly encountered with widespread abdominal screening and improved imaging techniques. The most common types of PCNs are serous cystic neoplasms (SCNs), mucinous cystic neoplasms (MCNs), and intraductal papillary mucinous neoplasms (IPMNs). Clinicians frequently feel bewildered in the differential diagnosis and subsequent management among the various types of lesions in the pancreas, which may lead to overtreatment or delayed treatment. The current review provides recent developments in the understanding of the three most common types of PCNs, the latest modalities used in preoperative diagnosis and differential diagnosis, as well as the most up to date management. Suggestions for diagnosis and differential diagnosis of SCNs, MCNs, and IPMNs are also provided for young surgeons. Better understanding of these neoplasms is essential for clinicians to make accurate diagnosis and to provide the best management for patients. PMID:23463761

  3. Comparative Analysis of Methods for Detecting Isocitrate Dehydrogenase 1 and 2 Mutations and Their Metabolic Consequence, 2-Hydroxyglutarate, in Different Neoplasms.

    Science.gov (United States)

    Babakoohi, Shahab; Lapidus, Rena G; Faramand, Rawan; Sausville, Edward A; Emadi, Ashkan

    Isocitrate dehydrogenase (IDH) mutations have been recognized in a few neoplasms including glioma, acute myeloid leukemia, chondrosarcoma, cholangiocarcinoma, and angioimmunoblastic T-cell lymphoma. The direct methods to detect IDH mutations include DNA sequencing, immunohistochemistry (IHC), or by measuring its byproduct, 2-hydroxyglutarate (2-HG), in the blood or urine. Moreover, conventional magnetic resonance imaging can be modified to magnetic resonance spectroscopy (MRS) to measure 2-HG in tumor. By conducting a search in Medline/PubMed and ISI/Web of Science for the published articles in English related to the methods for detection of IDH mutations and its byproduct 2-HG, we compared different methodologies to detect these mutations and discuss advantages and limitations of each method. Studies in which a methodology of detection was compared with another modality were included. Multiple studies have shown that both DNA sequencing and IHC are reliable methods for detecting IDH mutations in glioma and other solid neoplasms. IHC appeared to be less costly, easier to perform, and may be slightly more accurate than DNA sequencing. 2-HG has also been measured in bone marrow aspirate, serum and urine of patients with mutant IDH acute myeloid leukemia, and correlated very well with sequencing and IHC. Lastly, in some glioma patients, MRS detected IDH mutations noninvasively and reliably with excellent correlations with other modalities such as IHC and sequencing. In conclusion, IHC, MRS, and 2-HG detection all are clinically useful and comparable with DNA sequencing in identifying IDH mutations in different neoplasms. 2-HG and MRS can be utilized for monitoring treatment response in a variety of neoplasms.

  4. Acute Myeloid Leukemia with Isolated Trisomy 19 Associated with Diffuse Myelofibrosis and Osteosclerosis

    Directory of Open Access Journals (Sweden)

    Adam Stelling

    2015-12-01

    Full Text Available Primary myelofibrosis (PMF, per WHO criteria, is a clonal myeloproliferative neoplasm that usually presents with a proliferation of granulocytic and megakaryocytic lineages with an associated fibrous deposition and extramedullary hematopoiesis. The bone marrow histologic findings of this disorder are typically characterized by the presence of myeloid metaplasia with an associated reactive fibrosis, angiogenesis, and osteosclerosis. However, marked myelofibrosis is not solely confined to PMF and may also be associated with other conditions including but not limited to acute megakaryoblastic leukemias (FAB AML-M7. Here, we describe a rare case of a non-megakaryoblastic acute myeloid leukemia with marked myelofibrosis with osteosclerosis and an isolated trisomy 19. A 19-year-old male presented with severe bone pain of one week duration with a complete blood cell count and peripheral smear showing a mild anemia and occasional circulating blasts. A follow up computed tomography (CT scan showed diffuse osteosclerosis with no evidence of hepatosplenomegaly or lymphadenopathy. Subsequently, the bone marrow biopsy showed markedly sclerotic bony trabeculae and a hypercellular marrow with marked fibrosis and intervening sheets of immature myeloid cells consistent with myeloblasts with monocytic differentiation. Importantly, these myeloblasts were negative for megakaryocytic markers (CD61 and vWF, erythroid markers (hemoglobin and E-cadherin, and lymphoid markers (CD3, CD19, and TdT. Metaphase cytogenetics showed an isolated triosomy 19 with no JAK2 V617F mutation. The patient was treated with induction chemotherapy followed by allogenic hematopoietic stem cell transplantation which subsequently resulted in a rapid resolution of bone marrow fibrosis, suggesting graft-anti-fibrosis effect. This is a rare case of a non-megakaryoblastic acute myeloid leukemia with myelofibrosis and osteosclerosis with trisomy 19 that may provide insights into the prognosis and

  5. A case of non-Hodgkin lymphoma in a patient with chronic myeloid leukemia.

    Science.gov (United States)

    Găman, Amelia Maria; Dobrea, Camelia; Rotaru, Ionela

    2013-01-01

    Chronic myeloid leukemia is a clonal expansion of hematopoietic progenitor cells characterized by exaggerated proliferation of granulocytic lineage, with chronic phase, accelerated phase and blast crisis. Accelerated phase and blast crisis may be associated with extramedulary disease. Extramedullary transformation of CML can be determined both in nodal and extranodal sites. Non-Hodgkin lymphoma is rare in chronic myeloid leukemia and may be misdiagnosed as an extramedullary lymphoid blast transformation; the majorities are T-cell lymphomas with an immature thymic phenotype, while peripheral B-cell lymphomas are rarer. We report the case of a 79-year-old woman carrier Ph+ chronic myeloid leukemia who developed at eight months of diagnosis an accelerated phase of CML associated simultaneous with a tumor of soft palate, which was initial considering an extramedullary disease. The patient was treated with specific chemotherapy for accelerated phase of CML (Cytosinarabinoside) + Anagrelide, and reversed to secondary chronic phase of CML, but soft palate tumor persists. The immunohistochemical findings of bone marrow trephine biopsy examination showed chronic phase of CML (negativity for immature cells such as CD34, Tdt) and the biopsy of soft palate tumor and immunohistochemical findings revealed a primitive non-Hodgkin lymphoma (NHL) with medium B-cells (CD20, CD79a positive) and excluding an extramedullary blast crisis (CD34 negative, Tdt negative). Cytogenetic analysis in tumor revealed absence of Philadelphia chromosome. The patient was treated with local radiotherapy for NHL, with a favorable evolution and Hydroxyurea 1 g/day for CML with hematological remission. A localized lymphoid neoplasm may be an extramedullary localized blast crisis of CML or a distinct malignancy, with distinguished therapy and prognosis. A correct diagnosis based on a complex investigation: immunohistochemistry, conventional cytogenetic analysis and fluorescence in situ hybridization (FISH

  6. Senescence in intraductal papillary mucinous neoplasm of the pancreas.

    Science.gov (United States)

    Miyasaka, Yoshihiro; Nagai, Eishi; Ohuchida, Kenoki; Fujita, Hayato; Nakata, Kohei; Hayashi, Akifumi; Mizumoto, Kazuhiro; Tsuneyoshi, Masazumi; Tanaka, Masao

    2011-12-01

    Intraductal papillary mucinous neoplasm of the pancreas is attracting attention as a precursor lesion of the invasive ductal adenocarcinoma, whereas it has been reported that some intraductal papillary mucinous neoplasms do not display progression to malignancy and remain almost unchanged in size and morphology. Recent studies have reported that oncogene-induced senescence has been observed in neoplasms, especially in premalignant lesions, and that it can play an important role in preventing malignant progression. To clarify the presence of senescence in intraductal papillary mucinous neoplasms, we analyzed the expression of several markers of senescence. The intraductal papillary mucinous neoplasms evaluated in this study were classified into 4 groups according to the degree of dysplasia. Senescence-associated β-galactosidase activity and senescence-associated heterochromatin foci formation were investigated in 33 cases of intraductal papillary mucinous neoplasms and 6 normal controls. Immunohistochemical analysis of p16(INK4a) and p15(INK4b) was performed in 158 cases of intraductal papillary mucinous neoplasms and 10 normal controls. In the normal controls, neither senescence-associated β-galactosidase activity nor senescence-associated heterochromatin foci formation was observed. Most of the normal epithelia were negative for either p16(INK4a) or p15(INK4b). For all 4 markers, the percentages of positive cases reached a peak in intraductal papillary mucinous neoplasm with low-grade dysplasia and showed significant decreasing trends in the transition from intraductal papillary mucinous neoplasm with low-grade dysplasia to intraductal papillary mucinous neoplasm with an associated invasive carcinoma. Our results indicate that senescence is induced in the early stage of intraductal papillary mucinous neoplasm and gradually attenuated according to the progression. It is suggested that senescence plays a role in preventing malignant progression of intraductal

  7. Perspectives on testicular germ cell neoplasms.

    Science.gov (United States)

    Cheng, Liang; Lyu, Bingjian; Roth, Lawrence M

    2017-01-01

    Our knowledge of testicular germ cell neoplasms has progressed in the last few decades due to the description of germ cell neoplasia in situ (GCNIS) and a variety of specific forms of intratubular germ cell neoplasia, the discovery of isochromosome 12p and its importance in the development of invasiveness in germ cell tumors (GCTs), the identification of specific transcription factors for GCTs, and the recognition that a teratomatous component in mixed GCT represents terminal differentiation. Isochromosome 12p and 12p overrepresentation, collectively referred to as 12p amplification, are fundamental abnormalities that account for many types of malignant GCTs of the testis. Embryonal carcinoma is common in the testis but rare in the ovary, whereas the converse is true for mature cystic teratoma. Spermatocytic tumor occurs only in the testis; it has not been described in the ovary or extragonadal sites. The origin of ovarian mature cystic teratoma is similar to that of prepubertal-type testicular teratoma and dermoid cyst at any age in that it arises from a nontransformed germ cell, whereas postpubertal-type testicular teratoma arises from a malignant germ cell, most commonly through the intermediary of GCNIS. Somatic neoplasms, often referred to as monodermal teratomas, arise not infrequently from mature cystic teratoma of the ovary, whereas such neoplasms are rare in testicular teratoma with the exception of carcinoid. Integration of classical morphologic observations and emerging novel molecular studies will result in better understanding of the pathogenesis of GCTs and will optimize patient therapy. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Pancreatic serous cystic neoplasms accompanying other pancreatic tumors.

    Science.gov (United States)

    Kim, So-Woon; Song, In Hye; An, Soyeon; Kim, So Yeon; Kim, Hyoung Jung; Song, Ki-Byung; Hwang, Dae Wook; Lee, Sang Soo; Byun, Jae Ho; Seo, Dong-Wan; Kim, Song Cheol; Yu, Eunsil; Hong, Seung-Mo

    2017-02-01

    Serous cystic neoplasms (SCNs) are benign cystic neoplasms that predominantly occur in the tail of the pancreas in elderly women. It is well known that patients with von Hippel-Lindau syndrome can develop SCNs and neuroendocrine tumors in the pancreas. However, our understanding on SCNs accompanying other pancreatic tumors (SCNAOPTs) is limited. We compared the clinicopathological features of 15 surgically resected SCNAOPTs with 259 conventional SCNs. The prevalence of SCNAOPT was 5%. The SCNAOPTs were significantly smaller than conventional solitary SCNs, and they were more commonly observed in the head of the pancreas, whereas conventional solitary SCNs were more frequently noted in the body and tail. However, no differences were found in terms of sex, patient age, or the gross patterns of the SCNs. Accompanying neoplasms included 7 intraductal papillary mucinous neoplasms, 1 colloid carcinoma arising from intraductal papillary mucinous neoplasm, 6 neuroendocrine tumors, and 1 solid pseudopapillary neoplasm. Four neuroendocrine tumors associated with von Hippel-Lindau syndrome occurred as multiples, whereas 2 neuroendocrine tumors without von Hippel-Lindau syndrome were solitary. In summary, SCNAOPTs comprise 5% of all SCNs and tend to be smaller and located in the head of the pancreas. Common accompanying tumors include intraductal papillary mucinous neoplasms, neuroendocrine tumors, and other neoplasms such as colloid carcinoma and solid pseudopapillary neoplasm. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Bosutinib for Chronic Myeloid Leukemia.

    Science.gov (United States)

    Breccia, Massimo; Binotto, Gianni

    In recent years the availability of several tyrosine kinase inhibitors (TKI) in the therapeutic armamentarium for chronic myeloid leukemia has dramatically changed the objectives and expectations of healthcare providers and patients. For many, but not all, patients the forerunner of TKI, imatinib, is still an excellent treatment option. Unfortunately, nearly 30-40% of imatinib-treated patients discontinue therapy in the long-term, because of failure and/or intolerance. Second-generation tyrosine kinase inhibitors are more potent drugs which are suitable for treatment of approximately 50% of patents for whom imatinib is unsuitable, and with high success and rapid responses. Bosutinib, an orally bioavailable Src/Abl tyrosine kinase inhibitor, has proved to be effective in vitro against resistant chronic myeloid leukemia cells that do not harbor the T315I or V299L ABL kinase domain mutations. During clinical development the manageable safety profile of bosutinib have become evident for both simple and more advanced treatment. In this review we summarize preclinical and clinical data for bosutinib and discuss its ideal field of action in comparison with other TKI.

  10. Serum concentrations of nitrite and malondialdehyde as markers of oxidative stress in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors

    Directory of Open Access Journals (Sweden)

    Maria Juracy Petrola

    2012-01-01

    Full Text Available BACKGROUND: Chronic myeloid leukemia is a neoplasm characterized by clonal expansion of hematopoietic progenitor cells resulting from the (9:22(q34,11 translocation. The tyrosine kinase abl fusion protein,the initial leukemogenic event in chronic myeloid leukemia, is constitutively activated thus inducing the production of reactive oxygen species. Of particular relevance is the fact that an increase in reactive oxygen species can facilitate genomic instability and may contribute to disease progression. OBJETIVE: To evaluate oxidative stress by determining the levels of malondialdehyde and nitrite in chronic myeloid leukemia patients under treatment with 1st and 2nd generation tyrosine kinase inhibitors monitored at a referral hospital in Fortaleza, Ceará. METHODS: A cross-sectional study was performed of 64 male and female adults. Patients were stratified according to treatment. The levels of malondialdehyde and nitrite were determined by spectrophotometry. Statistical differences between groups were observed using the Student t-test and Fisher's exact test. The results are expressed as mean ± standard error of mean. The significance level was set for a p-value < 0.05 in all analyses. RESULTS: The results show significantly higher mean concentrations of nitrite and malondialdehyde in chronic myeloid leukemia patients using second-generation tyrosine kinase inhibitors compared to patients on imatinib. Conclusion: It follows that chronic myeloid leukemia patients present higher oxidative activity and that the increases in oxidative damage markers can indicate resistance to 1st generation tyrosine kinase inhibitors.

  11. A foregut cystic neoplasm with diagnostic and therapeutic similarities to mucinous cystic neoplasms of the pancreas.

    Science.gov (United States)

    Kluger, Michael D; Tayar, Claude; Belli, Andrea; Salceda, Juan A; van Nhieu, Jeanne T; Luciani, Alain; Cherqui, Daniel

    2013-07-10

    Greater utilization of cross-sectional abdominal imaging has increased the diagnostic frequency of cystic neoplasms of the pancreas. The "International Consensus Guidelines 2012 for the Management of IPMN and MCN of the Pancreas" illustrates a diagnostic and therapeutic algorithm for these lesions based on current knowledge. We present a case of a 49-year-old woman with two years of intermittent epigastric pain found to have an 8.5 cm head of the pancreas mass on CT. Evaluation was consistent with a mucinous cystic neoplasm for which she underwent an uneventful pancreaticoduodenectomy. Histology revealed a bronchogenic cyst of the head of the pancreas. Bronchogenic cysts are congenital anomalies of the ventral foregut that can migrate into the abdomen prior to fusion of the diaphragm. They can easily be misdiagnosed for other benign and malignant retroperitoneal lesions. Similarly to mucinous cystic neoplasms, bronchogenic cysts have been reported to undergo malignant transformation. They can also become infected and hemorrhage. Therefore, resection should be performed in appropriate risk candidates. It is possible, with increased use of high resolution cross-sectional imaging, that these lesions may be identified with greater frequency in the abdomen and confused with other pancreatic neoplasms. The presence of ciliated respiratory epithelium and cartilage on pathology provides for definitive diagnosis.

  12. Molecular pathways: myeloid complicity in cancer.

    Science.gov (United States)

    Stromnes, Ingunn M; Greenberg, Philip D; Hingorani, Sunil R

    2014-10-15

    Cancer-induced inflammation results in accumulation of myeloid cells. These myeloid cells include progenitors and progeny of monocytes, granulocytes, macrophages, and dendritic cells. It has become increasingly evident that tumor-dependent factors can condition myeloid cells toward an immunosuppressive and protumorigenic phenotype. Thus, myeloid cells are not simply bystanders in malignancy or barometers of disease burden. Reflecting their dynamic and plastic nature, myeloid cells manifest a continuum of cellular differentiation and are intimately involved at all stages of neoplastic progression. They can promote tumorigenesis through both immune-dependent and -independent mechanisms and can dictate response to therapies. A greater understanding of the inherent plasticity and relationships among myeloid subsets is needed to inform therapeutic targeting. New clinical trials are being designed to modulate the activities of myeloid cells in cancer, which may be essential to maximize the efficacy of both conventional cytotoxic and immune-based therapies for solid tumors. Clin Cancer Res; 20(20); 5157-70. ©2014 AACR. ©2014 American Association for Cancer Research.

  13. The effect of smoking on myeloid-related protein-8 and myeloid-related protein-14.

    Science.gov (United States)

    Ertugrul, Abdullah Seckin; Sahin, Hacer

    2016-05-20

    The aim of this study was to determine the myeloid-related protein-8 and myeloid-related protein-14 levels in the gingival crevicular fluid of smoker patients with generalized aggressive periodontitis (SAgP), smoker patients with chronic periodontitis (SCP), smoker patients with gingivitis (SG-smoker control), non-smoker patients with generalized aggressive periodontitis (AgP), non-smoker patients with chronic periodontitis (CP), and non-smoker patients with gingivitis (G-non-smoker control). The periodontal statuses of the patients were determined by periodontal clinical measurements and radiographical evaluations. The levels of myeloid-related protein-8 and myeloid-related protein-14 in the gingival crevicular fluid were assessed using enzyme-linked immuno sorbent assay. The myeloid-related protein-8 and myeloid-related protein-14 levels in the gingival crevicular fluid of patients with generalized aggressive periodontitis (non-smoker and smoker) were found to be statistically higher than patients with chronic periodontitis (non-smoker and smoker) and patients with gingivitis (non-smoker and smoker). Myeloid-related protein-8 and myeloid-related protein-14 levels of non-smokers were significantly higher than smokers in all types of periodontitis and gingivitis. The decreased myeloid-related protein-8 and myeloid-related protein-14 level could have prevented the haemostasis of calcium which plays a significant role in the migration of neutrophiles. Smoking affects myeloid-related protein-8 and myeloid-related protein-14 levels and may inhibit the antimicrobial efficiency against microorganisms. Due to these reasons smoker generalized aggressive periodontitis patients need to be treated in detail and their maintenance durations should be shortened.

  14. The effect of smoking on myeloid-related protein-8 and myeloid-related protein-14

    Directory of Open Access Journals (Sweden)

    Abdullah Seckin ERTUGRUL

    2016-01-01

    Full Text Available Abstract The aim of this study was to determine the myeloid-related protein-8 and myeloid-related protein-14 levels in the gingival crevicular fluid of smoker patients with generalized aggressive periodontitis (SAgP, smoker patients with chronic periodontitis (SCP, smoker patients with gingivitis (SG-smoker control, non-smoker patients with generalized aggressive periodontitis (AgP, non-smoker patients with chronic periodontitis (CP, and non-smoker patients with gingivitis (G-non-smoker control. The periodontal statuses of the patients were determined by periodontal clinical measurements and radiographical evaluations. The levels of myeloid-related protein-8 and myeloid-related protein-14 in the gingival crevicular fluid were assessed using enzyme-linked immuno sorbent assay. The myeloid-related protein-8 and myeloid-related protein-14 levels in the gingival crevicular fluid of patients with generalized aggressive periodontitis (non-smoker and smoker were found to be statistically higher than patients with chronic periodontitis (non-smoker and smoker and patients with gingivitis (non-smoker and smoker. Myeloid-related protein-8 and myeloid-related protein-14 levels of non-smokers were significantly higher than smokers in all types of periodontitis and gingivitis. The decreased myeloid-related protein-8 and myeloid-related protein-14 level could have prevented the haemostasis of calcium which plays a significant role in the migration of neutrophiles. Smoking affects myeloid-related protein-8 and myeloid-related protein-14 levels and may inhibit the antimicrobial efficiency against microorganisms. Due to these reasons smoker generalized aggressive periodontitis patients need to be treated in detail and their maintenance durations should be shortened.

  15. Metalloproteinases: a Functional Pathway for Myeloid Cells.

    Science.gov (United States)

    Chou, Jonathan; Chan, Matilda F; Werb, Zena

    2016-04-01

    Myeloid cells have diverse roles in regulating immunity, inflammation, and extracellular matrix turnover. To accomplish these tasks, myeloid cells carry an arsenal of metalloproteinases, which include the matrix metalloproteinases and the adamalysins. These enzymes have diverse substrate repertoires, and are thus involved in mediating proteolytic cascades, cell migration, and cell signaling. Dysregulation of metalloproteinases contributes to pathogenic processes, including inflammation, fibrosis, and cancer. Metalloproteinases also have important nonproteolytic functions in controlling cytoskeletal dynamics during macrophage fusion and enhancing transcription to promote antiviral immunity. This review highlights the diverse contributions of metalloproteinases to myeloid cell functions.

  16. [Surgical approach of gastroduodenal neuroendocrine neoplasms].

    Science.gov (United States)

    Fendrich, V; Bartsch, D K

    2016-04-01

    Gastroduodenal neuroendocrine tumors are rare but an increase in incidence has been recognized worldwide over the past 35 years. At the same time the prognosis of patients has substantially improved because the majority of these tumors can now be detected at an early stage. Neuroendocrine neoplasms (NENs) of the stomach are the most frequent neoplasms of neuroendocrine origin in the gastrointestinal tract. The therapeutic management of these tumors is complicated by the fact that they must be classified not only by staging and grading but also according to their pathophysiological background (types). These types differ in biological behavior and therefore have an influence on the therapeutic concept. Because more than 90 % of duodenal NENs are often asymptomatic and are as a rule identified at a curable stage, resection of the tumor should always be the first line of therapy. The therapeutic strategies vary from local endoscopic resection (duodenotomy with excision) up to pancreas retaining duodenectomy and pylorus retaining or classical Whipple procedures. This article presents the various surgical approaches to gastric and duodenal NENs.

  17. Pancreatic neuroendocrine neoplasms; Neuroendokrine Neoplasien des Pankreas

    Energy Technology Data Exchange (ETDEWEB)

    Beiderwellen, K.; Lauenstein, T.C. [Universitaetsklinikum Essen, Institut fuer Diagnostische und Interventionelle Radiologie und Neuroradiologie, Essen (Germany); Sabet, A.; Poeppel, T.D. [Universitaetsklinikum Essen, Klinik fuer Nuklearmedizin, Essen (Germany); Lahner, H. [Universitaetsklinikum Essen, Klinik fuer Endokrinologie und Stoffwechselerkrankungen, Essen (Germany)

    2016-04-15

    Pancreatic neuroendocrine neoplasms (NEN) account for 1-2 % of all pancreatic neoplasms and represent a rare differential diagnosis. While some pancreatic NEN are hormonally active and exhibit endocrine activity associated with characteristic symptoms, the majority are hormonally inactive. Imaging techniques such as ultrasound, computed tomography (CT), magnetic resonance imaging (MRI) and positron emission tomography (PET) or as combined PET/CT play a crucial role in the initial diagnosis, therapy planning and control. Endoscopic ultrasound (EUS) and multiphase CT represent the reference methods for localization of the primary pancreatic tumor. Particularly in the evaluation of small liver lesions MRI is the method of choice. Somatostatin receptor scintigraphy and somatostatin receptor PET/CT are of particular value for whole body staging and special aspects of further therapy planning. (orig.) [German] Neuroendokrine Neoplasien (NEN) des Pankreas stellen mit einem Anteil von 1-2 % aller pankreatischen Tumoren eine seltene Differenzialdiagnose dar. Ein Teil der Tumoren ist hormonell aktiv und faellt klinisch durch charakteristische Symptome auf, wohingegen der ueberwiegende Anteil hormonell inaktiv ist. Bildgebende Verfahren wie Sonographie, Computertomographie (CT), Magnetresonanztomographie (MRT) und nicht zuletzt Positronenemissionstomographie (PET oder kombiniert als PET/CT) spielen eine zentrale Rolle fuer Erstdiagnose, Therapieplanung und -kontrolle. Die Endosonographie und die multiphasische CT stellen die Referenzmethoden zur Lokalisation des Primaertumors dar. Fuer die Differenzierung insbesondere kleiner Leberlaesionen bietet die MRT die hoechste Aussagekraft. Fuer das Ganzkoerperstaging und bestimmte Aspekte der Therapieplanung lassen sich die Somatostatinrezeptorszintigraphie und v. a. die Somatostatinrezeptor-PET/CT heranziehen. (orig.)

  18. Peptichemio in pretreated patients with plasmacell neoplasms.

    Science.gov (United States)

    Paccagnella, A; Salvagno, L; Chiarion-Sileni, V; Bolzonella, S; De Besi, P; Frizzarin, M; Pappagallo, G L; Fosser, V P; Fornasiero, A; Segati, R

    1986-09-01

    Twenty-one patients with alkylator-resistant plasmacell neoplasms were treated with Peptichemio (PTC) at a dose of 40 mg/m2 for 3 days every 3 weeks or, in the case of persistent leukopenia and/or thrombocytopenia, at the single dose of 70 mg/m2 every 2-3 weeks according to haematological recovery. Seventeen patients, 10 with multiple myeloma and seven with extramedullary plasmacytoma (EMP), were fully evaluable. Six of 17 patients (35%) responded: three of seven EMP patients had a complete remission and 3 of 10 multiple myeloma patients had an objective response greater than 50%. The median duration of response was 8.5 months. An EMP patient obtained a complete response lasting for 16 months. The most frequent toxic effect were phlebosclerosis, occurring in all the patients, and myelosuppression, which was severe in only one case. PTC appears to be an active drug in patients with plasmacell neoplasms even if resistant to alkylating agents.

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  7. Vorinostat in Treating Patients With Acute Myeloid Leukemia

    Science.gov (United States)

    2014-04-30

    Adult Acute Erythroid Leukemia (M6); Adult Acute Megakaryoblastic Leukemia (M7); Adult Acute Minimally Differentiated Myeloid Leukemia (M0); Adult Acute Monoblastic Leukemia (M5a); Adult Acute Monocytic Leukemia (M5b); Adult Acute Myeloblastic Leukemia With Maturation (M2); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Myelomonocytic Leukemia (M4); Adult Acute Promyelocytic Leukemia (M3); Recurrent Adult Acute Myeloid Leukemia; Refractory Cytopenia With Multilineage Dysplasia; Secondary Acute Myeloid Leukemia; Untreated Adult Acute Myeloid Leukemia

  8. Key Data Elements in Myeloid Leukemia

    NARCIS (Netherlands)

    Varghese, J.; Holz, C.; Neuhaus, P.; Bernardi, M.; Boehm, A.; Ganser, A.; Gore, S.; Heaney, M.; Hochhaus, A.; Hofmann, W.K.; Krug, U.; Muller-Tidow, C.; Smith, A.; Weltermann, A.; Witte, T.J.M. de; Hehlmann, R.; Dugas, M.

    2016-01-01

    Data standards consisting of key data elements for clinical routine and trial documentation harmonize documentation within and across different health care institutions making documentation more efficient and improving scientific data analysis. This work focusses on the field of myeloid leukemia

  9. Acute myeloid leukemia presenting as galactorrhea

    OpenAIRE

    Nambiar, K. Rakul; Nair, Sreejith G.; Devi, R. Nandini

    2016-01-01

    Acute myeloid leukemia (AML) presents with symptoms related to pancytopenia (weakness, infections, bleeding diathesis) and organ infiltration with leukemic cells. Galactorrhea is an uncommon manifestation of AML. We report a case of AML presenting with galactorrhea.

  10. Gene expression profiling in acute myeloid leukaemia

    NARCIS (Netherlands)

    de Jonge, H. J. M.; Huls, G.; de Bont, E. S. J. M.

    Acute myeloid leukaemia (AML) is a heterogeneous disease characterised by clonal malignant haematopoiesis with a differentiation arrest and excessive proliferation of leukaemic blasts. Over the past decades, the heterogeneity of AML has been illustrated by evolving classifications based on

  11. The incidence of malignancy in neoplasms of the submandibular ...

    African Journals Online (AJOL)

    Objective. To test the validity of the reported high incidence (50%) of malignancy in neoplasms of the submandibular salivary gland, and to compare it with that of the parotid gland. Methods. This is a retrospective analysis of major salivary gland neoplasms in 127 patients who were treated between August 1988 and ...

  12. Helicobacter pylori is undetectable in intraductal papillary mucinous neoplasm.

    Science.gov (United States)

    Baysal, Birol; İnce, Ali Tüzün; Gültepe, Bilge; Gücin, Zuhal; Malya, Fatma Ümit; Tozlu, Mukaddes; Şentürk, Hakan; Bağcı, Pelin; Çelikel, Çiğdem Ataizi; Aker, Fügen; Özkara, Selvinaz; Paşaoğlu, Esra; Dursun, Nevra; Özgüven, Banu Yılmaz; Tunçel, Deniz

    2016-01-01

    About half of the world population is infected with Helicobacter pylori (H. pylori), a bacterium associated with gastric cancer and considered to be a risk factor for pancreatic ductal adenocarcinoma. Whether the bacterium is associated with intraductal papillary mucinous neoplasm, believed to be a precursor of pancreatic ductal adenocarcinoma, is unknown. The aim of this study was to investigate the presence of H. pylori DNA in tissue sections of intraductal papillary mucinous neoplasm. The presence of H. pylori DNA was tested in a retrospective controlled study of formalin-fixed, paraffin-embedded pancreatic tissues from 24 patients who underwent surgery for intraductal papillary mucinous neoplasm. Histologically normal tissues surrounding neoplasms were used as control. H. pylori DNA was evaluated after deparaffinization, DNA extraction, and purification, and results were evaluated statistically. Samples were collected from 13 males and 11 females with mean age 59 years (range 44-77), and consisted of 19 cases of main-duct and three cases of branched-duct intraductal papillary mucinous neoplasm. Two patients were diagnosed with pancreatic cancer and main-duct intraductal papillary mucinous neoplasm. H. pylori DNA was not detected either in intraductal papillary mucinous neoplasm tissue, or in surrounding normal tissue. Although H. pylori has been implicated in pancreatic ductal adenocarcinoma, it may not play a key role in the development of intraductal papillary mucinous neoplasm. Copyright © 2016 IAP and EPC. Published by Elsevier B.V. All rights reserved.

  13. Childhood deaths from malignant Neoplasms in accra | Gyasi ...

    African Journals Online (AJOL)

    Background: Malignant neoplasms are set to become a leading cause of childhood death in sub- Saharan Africa as immunization programmes reduce deaths due to infectious diseases. Knowledge of the pattern of deaths from these neoplasms is therefore desirable. Objective: To describe the pattern of deaths from ...

  14. A Survey Of Cutaneous Neoplasms Among Horses Used For ...

    African Journals Online (AJOL)

    A total of 314 Arab horses of ages ranging from 4 to 15 years were examined of which 35(11.2%) were Albino and 279(88.85%) were non albino horses. Nine horses (2.86%) were observed to have cutaneous neoplasm. Gross characteristics of the cutaneous neoplasm found were studied and some biopsy samples ...

  15. Gallbladder benign neoplasms: relationship with lithiasis and cancer (ultrasonographic study).

    Science.gov (United States)

    Brogna, A; Bucceri, A M; Branciforte, G; Travali, S; Loreno, M; Muratore, L A; Catalano, F

    2001-09-01

    The aim of this study is to clarify the prevalence of gallbladder benign neoplasms, their ultrasonographic appearance and their relationship with gallbladder lithiasis and cancer. This study was carried out on 9000 consecutive patients having ultrasound of upper abdomen. Only adenomas and papillomas are considered as true benign neoplasms of the gallbladder. Adenomiomatosis and cholesterol polyps, often erroneously labelled as benign neoplasms, were excluded. Patients were followed-up by ultrasound every three months up to two years. The prevalence of benign neoplasms was 1.19%. Papillomas were found more frequently than adenomas both in males (68.51%) and in females (94.33%). Gallstones were not concomitant with benign neoplasms in any case. Neither stones nor growth of gallbladder benign neoplasms were recorded within the two-year follow-up period. Papillomas were more frequent than adenomas. No gallstone was concurrent with gallbladder benign neoplasms in our series. However, when gallstones are evidenced at ultrasound, further attention is recommended to discover probable concomitant neoplasms. Papillomas and adenomas more than 1 cm in diameter should be quarterly followed-up, while smaller masses could be six-monthly controlled. Surgery should be indicated for large-sized or rapidly growing masses because of the risk for cancer development.

  16. Second Primary Malignant Neoplasms and Survival in Adolescent and Young Adult Cancer Survivors.

    Science.gov (United States)

    Keegan, Theresa H M; Bleyer, Archie; Rosenberg, Aaron S; Li, Qian; Goldfarb, Melanie

    2017-11-01

    Although the increased incidence of second primary malignant neoplasms (SPMs) is a well-known late effect after cancer, few studies have compared survival after an SPM to survival of the same cancer occurring as first primary malignant neoplasm (PM) by age. To assess the survival impact of SPMs in adolescents and young adults (AYAs) (15-39 years) compared with that of pediatric (cancer in 13 Surveillance, Epidemiology and End Results regions in the United States diagnosed from 1992 to 2008 and followed through 2013. Data analysis was performed between June 2016 and January 2017. Five-year relative survival was calculated overall and for each cancer occurring as a PM or SPM by age at diagnosis. The impact of SPM status on cancer-specific death was examined using multivariable Cox proportional hazards regression. A total of 15 954 pediatric, 125 750 AYAs, and 878 370 older adult patients diagnosed as having 14 cancers occurring as a PM or SPM were included. Overall, 5-year survival after an SPM was 33.1% lower for children, 20.2% lower for AYAs, and 8.3% lower for older adults compared with a PM at the same age. For the most common SPMs in AYAs, the absolute difference in 5-year survival was 42% lower for secondary non-Hodgkin lymphoma, 19% for secondary breast carcinoma, 15% for secondary thyroid carcinoma, and 13% for secondary soft-tissue sarcoma. Survival by SPM status was significantly worse in younger vs older patients for thyroid, Hodgkin lymphoma, non-Hodgkin lymphoma, acute myeloid leukemia, soft-tissue sarcoma, and central nervous system cancer. Adolescents and young adults with secondary Hodgkin lymphoma (hazard ratio [95% CI], 3.5 [1.7-7.1]); soft-tissue sarcoma (2.8 [2.1-3.9]); breast carcinoma (2.1 [1.8-2.4]); acute myeloid leukemia (1.9 [1.5-2.4]); and central nervous system cancer (1.8 [1.2-2.8]) experienced worse survival compared with AYAs with the same PMs. The adverse impact of SPMs on survival is substantial for AYAs and may partially

  17. Multiple neoplasms, single primaries, and patient survival

    Directory of Open Access Journals (Sweden)

    Amer MH

    2014-03-01

    Full Text Available Magid H Amer Department of Medicine, St Rita's Medical Center, Lima, OH, USA Background: Multiple primary neoplasms in surviving cancer patients are relatively common, with an increasing incidence. Their impact on survival has not been clearly defined. Methods: This was a retrospective review of clinical data for all consecutive patients with histologically confirmed cancer, with emphasis on single versus multiple primary neoplasms. Second primaries discovered at the workup of the index (first primary were termed simultaneous, if discovered within 6 months of the index primary were called synchronous, and if discovered after 6 months were termed metachronous. Results: Between 2005 and 2012, of 1,873 cancer patients, 322 developed second malignancies; these included two primaries (n=284, and three or more primaries (n=38. Forty-seven patients had synchronous primaries and 275 had metachronous primaries. Patients with multiple primaries were predominantly of Caucasian ancestry (91.0%, with a tendency to develop thrombosis (20.2%, had a strong family history of similar cancer (22.3%, and usually presented with earlier stage 0 through stage II disease (78.9%. When compared with 1,551 patients with a single primary, these figures were 8.9%, 15.6%, 18.3%, and 50.9%, respectively (P≤0.001. Five-year survival rates were higher for metachronous cancers (95% than for synchronous primaries (59% and single primaries (59%. The worst survival rate was for simultaneous concomitant multiple primaries, being a median of 1.9 years. The best survival was for patients with three or more primaries (median 10.9 years and was similar to the expected survival for the age-matched and sex-matched general population (P=0.06991. Conclusion: Patients with multiple primaries are usually of Caucasian ancestry, have less aggressive malignancies, present at earlier stages, frequently have a strong family history of similar cancer, and their cancers tend to have indolent

  18. Subclinical hypothyroidism as an independent risk factor for colorectal neoplasm.

    Science.gov (United States)

    Mu, Guifang; Mu, Xuefeng; Xing, Huizhi; Xu, Ruibiao; Sun, Guangxi; Dong, Chonghai; Pan, Qichuan; Xu, Chao

    2015-04-01

    Recently, the prevalence of colorectal neoplasm is increasing sharply. It has been reported that both colorectal neoplasm and cardiovascular disease share similar common risk factors. Subclinical hypothyroidism (SCH) occurs in 4-20% of the adult population and is an independent risk factor for cardiovascular disease. However, no study has yet explored the relationship between SCH and colorectal neoplasm. Our objectives were to clarify the association between the two conditions. This is a case-control study. A total of 273 cases of colorectal neoplasm were first identified, and a 1:3 matched random sample of 819 controls was then collected using strata according to age, and gender. The medical records of all these patients were retrieved. Blood pressure, body mass index, and thyroid function were determined. Colonoscopies were performed by experienced gastroenterologists. A logistic regression analysis was carried out to explore the relationship between SCH and colorectal neoplasm. Remarkably, the prevalence rate of SCH was significantly higher in colorectal neoplasm (+) group, compared with colorectal neoplasm (-) group (Pneoplasm was found in 67 (34.9%) subjects in SCH group, which was more than that in euthyroid group (P=0.002). Moreover, patients with SCH were more likely to have advanced colonic lesion and colorectal cancer compared with euthyroid subjects (P=0.028 and 0.036, respectively). After adjusting for the factors of blood pressure, body mass index, history of hypertension and smoking, an association still existed between colorectal neoplasm and SCH (OR=1.689, 95% CI: 1.207-2.362, P=0.002). A strong association between SCH and colorectal neoplasm was firstly identified. SCH was found to be an independent risk factor for colorectal neoplasm. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  19. One of the multifocal intraductal papillary mucinous neoplasms with the clinical characteristics of mucinous cystic neoplasm.

    Science.gov (United States)

    Hata, Tatsuo; Sakata, Naoaki; Motoi, Fuyuhiko; Unno, Michiaki

    2013-02-18

    A 74-year-old woman with multiple cystic lesions in the pancreas was first examined at a previous hospital. Many of the lesions in the head and body were diagnosed as a branch duct intraductal papillary mucinous neoplasms (IPMN), but one lesion in the tail was a simple cyst. She had no surgical treatment because there were no signs of malignancy in any of the lesions. After 3 years, solid components appeared only in the tail lesion. Because of its preoperative diagnosis as a mucinous cystic neoplasm (MCN), distal pancreatectomy was performed. Histopathological findings revealed that the cystic tumour in the tail was IPMN with minimally invasive carcinoma and the other lesion in the body was IPMN with low-grade dysplasia. They were IPMNs bridged by a non-dilated main pancreatic duct. There may be some cases in which it is difficult to diagnose between IPMN and MCN.

  20. Incidence of colorectal neoplasms among male pilots.

    Science.gov (United States)

    Moshkowitz, Menachem; Toledano, Ohad; Galazan, Lior; Hallak, Aharon; Arber, Nadir; Santo, Erwin

    2014-07-21

    To assess the prevalence of colorectal neoplasms (adenomas, advanced adenomas and colorectal cancers) among Israeli military and commercial airline pilots. Initial screening colonoscopy was performed on average-risk (no symptoms and no family history) airline pilots at the Integrated Cancer Prevention Center (ICPC) in the Tel-Aviv Medical Center. Visualized polyps were excised and sent for pathological examination. Advanced adenoma was defined as a lesion >10 mm in diameter, with high-grade dysplasia or villous histology. The results were compared with those of an age- and gender-matched random sample of healthy adults undergoing routine screening at the ICPC. There were 270 pilots (mean age 55.2 ± 7.4 years) and 1150 controls (mean age 55.7 ± 7.8 years). The prevalence of colorectal neoplasms was 15.9% among the pilots and 20.6% among the controls (P = 0.097, χ (2) test). There were significantly more hyperplastic polyps among pilots (15.5% vs 9.4%, P = 0.004) and a trend towards fewer adenomas (14.8% vs 20.3% P = 0.06). The prevalence of advanced lesions among pilots and control groups was 5.9% and 4.7%, respectively (P = 0.49), and the prevalence of cancer was 0.7% and 0.69%, respectively (P = 0.93). There tends to be a lower colorectal adenoma, advanced adenoma and cancer prevalence but a higher hyperplastic polyp prevalence among pilots than the general population.

  1. Characteristics and outcome of patients with therapy-related acute promyelocytic leukemia front-line treated with or without arsenic trioxide.

    Science.gov (United States)

    Kayser, S; Krzykalla, J; Elliott, M A; Norsworthy, K; Gonzales, P; Hills, R K; Baer, M R; Ráčil, Z; Mayer, J; Novak, J; Žák, P; Szotkowski, T; Grimwade, D; Russell, N H; Walter, R B; Estey, E H; Westermann, J; Görner, M; Benner, A; Krämer, A; Smith, B D; Burnett, A K; Thiede, C; Röllig, C; Ho, A D; Ehninger, G; Schlenk, R F; Tallman, M S; Levis, M J; Platzbecker, U

    2017-11-01

    Therapy-related acute promyelocytic leukemia (t-APL) is relatively rare, with limited data on outcome after treatment with arsenic trioxide (ATO) compared to standard intensive chemotherapy (CTX). We evaluated 103 adult t-APL patients undergoing treatment with all-trans retinoic acid (ATRA) alone (n=7) or in combination with ATO (n=24), CTX (n=53), or both (n=19). Complete remissions were achieved after induction therapy in 57% with ATRA, 100% with ATO/ATRA, 78% with CTX/ATRA, and 95% with CTX/ATO/ATRA. Early death rates were 43% for ATRA, 0% for ATO/ATRA, 12% for CTX/ATRA and 5% for CTX/ATO/ATRA. Three patients relapsed, two developed therapy-related acute myeloid leukemia and 13 died in remission including seven patients with recurrence of the prior malignancy. Median follow-up for survival was 3.7 years. None of the patients treated with ATRA alone survived beyond one year. Event-free survival was significantly higher after ATO-based therapy (95%, 95% CI, 82-99%) as compared to CTX/ATRA (78%, 95% CI, 64-87%; P=0.042), if deaths due to recurrence of the prior malignancy were censored. The estimated 2-year overall survival in intensively treated patients was 88% (95% CI, 80-93%) without difference according to treatment (P=0.47). ATO when added to ATRA or CTX/ATRA is feasible and leads to better outcomes as compared to CTX/ATRA in t-APL.

  2. Blastic plasmacytoid dendritic cell neoplasm frequently shows occult central nervous system involvement at diagnosis and benefits from intrathecal therapy.

    Science.gov (United States)

    Martín-Martín, Lourdes; Almeida, Julia; Pomares, Helena; González-Barca, Eva; Bravo, Pilar; Giménez, Teresa; Heras, Cecilia; Queizán, José-Antonio; Pérez-Ceballos, Elena; Martínez, Violeta; Alonso, Natalia; Calvo, Carlota; Álvarez, Rodolfo; Caballero, María Dolores; Orfao, Alberto

    2016-03-01

    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare aggressive myeloid neoplasm which shows a high rate of central nervous system (CNS) recurrence and overall survival (OS) of <1 year. Despite this, screening for CNS involvement is not routinely performed at diagnosis and intrathecal (IT) prophylaxis is not regularly administered in BPDCN. Here, we prospectively evaluated 13 consecutive BPDCN patients for the presence of CNS involvement by flow cytometry. Despite none of the patients presented with neurological symptoms, occult CNS involvement was detected in 6/10 cases evaluated at diagnosis and 3/3 studied at relapse/progression. BPDCN patients evaluated at diagnosis received IT treatment -either CNS prophylaxis (n = 4) or active therapy (n = 6)- and all but one remain alive (median follow-up of 20 months). In contrast, all three patients assessed at relapse/progression died. The potential benefit of IT treatment administered early at diagnosis on OS and CNS recurrence-free survival of BPDCN was further confirmed in a retrospective cohort of another 23 BPDCN patients. Our results show that BPDCN patients studied at diagnosis frequently display occult CNS involvement; moreover, they also indicate that treatment of occult CNS disease might lead to a dramatically improved outcome of BPDCN.

  3. CT findings of intrathoricic neoplasm associated with hypertrophic osteoarthropathy

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, Hee Sung; Choe, Kyu Ok; Chung, Jin Il; Oh, Sei Chung [College of Medicine Yonsei University, Seoul (Korea, Republic of)

    1994-02-15

    Hypertrophic osteoarthropathy(HOA) is a clinical syndrome consisting of clubbing, periostitis and synovitis. Most frequent causes of hypertrophic osteoarthropathy are intrathoracic neoplasms, among which the bronchogenic carcinoma ranks the highest. But computed tomographic evaluation of intrathoracic neoplasm associated with HOA has been seldom reported. The purpose of this study is to evaluate CT findings of intrathoracic neoplasm associated with HOA, and to infer possible mechanism. Seven cases of intrathoracic neoplasm associated with HOA were included in our study. Diagnoses of HOA were made by Tc99m bone scintigraphy or plain radiography. The findings of chest CT scans were reviewed retrospectively, with main interests on their size, location and internal characteristics, ect. Seven cases of intrathoracic neoplasm consisted of five bronchogenic carcinomas and two thymic tumors. The size of intrathoracic tumors were relatively large ranging from 6cm to 13cm(average 8.0cm). All thoracic neoplasms showed wide pleural contact, and one of them invaded thoracic wall. The range of length of pleural contact was 5-18cm(average 9.9cm). All of seven patients had internal necrosis, and one of them showed cavitation in thoracic mass. Intrathoracic neoplasms associated with HOA had a tendency to be large, to contain internal necrosis, and to widely abut the thoracic pleura.

  4. Therapy related CMML: a case report and review of the literature.

    Science.gov (United States)

    Ahmed, Faheem; Osman, Nadia; Lucas, Fred; Neff, Guy; Smolarek, Teresa; Bennett, John M; Komrokji, Rami S

    2009-06-01

    Therapy related chronic myelomonocytic leukemia (t-CMML) is rare. We report a 23-year-old female who developed acute fulminant hepatic failure after drug overdose. She underwent ABO incompatible orthotopic liver transplant. She received cyclophosphamide along with other immunosuppressants. Seven years later, she was diagnosed with t-CMML-2 with 45XX,-7 karyotype. She received 4 cycles of azacitidine and proceeded with allogeneic bone marrow transplant. This is the first a case of t-CMML reported in a liver transplant recipient. In this article, we also summarize all reported cases of t-CMML, and we review therapy related MDS in recipients of solid organ transplant.

  5. Idhifa Approved for Some with Acute Myeloid Leukemia

    Science.gov (United States)

    ... html Idhifa Approved for Some With Acute Myeloid Leukemia For adults with specific genetic mutation To use ... that leads to relapsed or refractory acute myeloid leukemia (AML). The mutation in the IDH2 gene can ...

  6. Solid and papillary epithelial neoplasm of the pancreas

    Energy Technology Data Exchange (ETDEWEB)

    Friedman, A.C.; Lichtenstein, J.E.; Fishman, E.K.; Oertel, J.E.; Dachman, A.H.; Siegelman, S.S.

    1985-02-01

    Solid and papillary epithelial neoplasm of the pancreas is an uncommon low grade malignant tumor histologically distinct from the usual ductal adenocarcinoma and amenable to cure by surgical excision. It tends to occur in black women in their second or third decade of life and has often been misclassified as nonfunctional islet cell tumor or as cystadenoma or cystadenocarcinoma. Twelve cases were reviewed. Sonography and CT of solid and pipillary epithelial neoplasms depict a well-demarcated mass that can be solid, mixed cystic and solid, or largely cystic. The radiologic appearance is dependent on the maintenance of the integrity of the neoplasm versus the extent of retrogressive changes that have occurred.

  7. [Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia].

    Science.gov (United States)

    Senín, Alicia; Arenillas, Leonor; Martínez-Avilés, Luz; Fernández-Rodríguez, Concepción; Bellosillo, Beatriz; Florensa, Lourdes; Besses, Carles; Álvarez-Larrán, Alberto

    2015-06-08

    Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) display similar clinical and hematological characteristics. The objective of the present study was to determine the mutational status of SETBP1 and CSF3R in these diseases. The mutational status of SETBP1 and CSF3R was studied in 7 patients with aCML (n = 3), CNL (n = 1) and unclassifiable myeloproliferative neoplasms (MPN-u) (n = 3). Additionally, mutations in ASXL1, SRSF2, IDH1/2, DNMT3A, and RUNX1 were also analyzed. SETBP1 mutations (G870S and G872R) were detected in 2 patients with MPN-u, and one of them also presented mutations in SRSF2 (P95H) and ASXL1 (E635fs). The CNL case showed mutations in CSFR3 (T618I), SETBP1 (G870S) and SRSF2 (P95H). No patient classified as aCML had mutations in SETBP1 or CSF3R. One of the patients with mutations evolved to acute myeloid leukemia, while the other 2 had disease progression without transformation to overt leukemia. The knowledge of the molecular alterations involved in these rare diseases is useful in the diagnosis and may have an impact on both prognosis and therapy. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  8. Extramedullary Acute Myeloid Leukemia (AML: Leukemic Pleural Effusion, Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Naveen ePemmaraju

    2014-06-01

    Full Text Available Objective and Importance: Malignant pleural effusions occur in the setting of both solid and hematologic malignancies. Pleural effusion caused by leukemic infiltration is an unusual extramedullary manifestation of acute myeloid leukemia (AML with fewer than 20 cases reported.1-11 We report a case of pericardial and pleural effusions in a patient with AML and review the literature. Clinical presentation: In this case, a 55 year old man with previous history of myeloproliferative neoplasm (MPN experienced transformation AML, heralded by appearance of leukemic pleural effusions. The patient was identified to have leukemic pleural effusion based upon extended cytogenetic analysis of the pleural fluid, as morphologic analysis alone was insufficient. Intervention: The patient was treated with hypomethylator-based and intensive chemotherapy strategies, both of which maintained resolution of the effusions in the remission setting. Conclusion: Due to the rarity of diagnosis of leukemic pleural effusions, both cytogenetic and fluorescence in situ hybridization (FISH testing are recommended. Futhermore, systemic chemotherapy directed at the AML can lead to complete resolution of leukemic pleural effusions. Objective and ImportancePleural effusion caused by leukemic infiltration is an unusual extramedullary manifestation of acute myeloid leukemia (AML, but may be more common than previously thought. Fewer than 20 cases have been reported.1-11 We report a case of pericardial and pleural effusions in a patient with AML and review the literature.

  9. Mouse models of NPM1-mutated acute myeloid leukemia: biological and clinical implications.

    Science.gov (United States)

    Sportoletti, P; Varasano, E; Rossi, R; Mupo, A; Tiacci, E; Vassiliou, G; Martelli, M P; Falini, B

    2015-02-01

    Acute myeloid leukemia (AML) carrying nucleophosmin (NPM1) mutations displays distinct biological and clinical features that led to its inclusion as a provisional disease entity in the 2008 World Health Organization (WHO) classification of myeloid neoplasms. Studies of the molecular mechanisms underlying the pathogenesis of NPM1-mutated AML have benefited greatly from several mouse models of this leukemia developed over the past few years. Immunocompromised mice xenografted with NPM1-mutated AML served as the first valuable tool for defining the biology of the disease in vivo. Subsequently, genetically engineered mouse models of the NPM1 mutation, including transgenic and knock-in alleles, allowed the generation of mice with a constant genotype and a reproducible phenotype. These models have been critical for investigating the nature of the molecular effects of these mutations, defining the function of leukemic stem cells in NPM1-mutated AML, identifying chemoresistant preleukemic hemopoietic stem cells and unraveling the key molecular events that cooperate with NPM1 mutations to induce AML in vivo. Moreover, they can serve as a platform for the discovery and validation of new antileukemic drugs in vivo. Advances derived from the analysis of these mouse models promise to greatly accelerate the development of new molecularly targeted therapies for patients with NPM1-mutated AML.

  10. The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.

    Science.gov (United States)

    Eisfeld, A-K; Mrózek, K; Kohlschmidt, J; Nicolet, D; Orwick, S; Walker, C J; Kroll, K W; Blachly, J S; Carroll, A J; Kolitz, J E; Powell, B L; Wang, E S; Stone, R M; de la Chapelle, A; Byrd, J C; Bloomfield, C D

    2017-10-01

    Recurrent chromosomal abnormalities and gene mutations detected at the time of diagnosis of acute myeloid leukemia (AML) are associated with particular disease features, treatment response and survival of AML patients, and are used to denote specific disease entities in the World Health Organization classification of myeloid neoplasms and acute leukemia. However, large studies that integrate cytogenetic and comprehensive mutational information are scarce. We created a comprehensive oncoprint of mutations associated with recurrent cytogenetic findings by combining the information on mutational patterns of 80 cancer- and leukemia-associated genes with cytogenetic findings in 1603 adult patients with de novo AML. We show unique differences in the mutational profiles among major cytogenetic subsets, identify novel associations between recurrent cytogenetic abnormalities and both specific gene mutations and gene functional groups, and reveal differences in cytogenetic and mutational features between patients younger than 60 years and those aged 60 years or older. The identified associations between cytogenetic and molecular genetic data may help guide mutation testing in AML, and result in more focused application of targeted therapy in patients with de novo AML.

  11. Centrosome-kinase fusions promote oncogenic signaling and disrupt centrosome function in myeloproliferative neoplasms.

    Directory of Open Access Journals (Sweden)

    Joanna Y Lee

    Full Text Available Chromosomal translocations observed in myeloproliferative neoplasms (MPNs frequently fuse genes that encode centrosome proteins and tyrosine kinases. This causes constitutive activation of the kinase resulting in aberrant, proliferative signaling. The function of centrosome proteins in these fusions is not well understood. Among others, kinase centrosome localization and constitutive kinase dimerization are possible consequences of centrosome protein-kinase fusions. To test the relative contributions of localization and dimerization on kinase signaling, we targeted inducibly dimerizable FGFR1 to the centrosome and other subcellular locations and generated a mutant of the FOP-FGFR1 MPN fusion defective in centrosome localization. Expression in mammalian cells followed by western blot analysis revealed a significant decrease in kinase signaling upon loss of FOP-FGFR1 centrosome localization. Kinase dimerization alone resulted in phosphorylation of the FGFR1 signaling target PLCγ, however levels comparable to FOP-FGFR1 required subcellular targeting in addition to kinase dimerization. Expression of MPN fusion proteins also resulted in centrosome disruption in epithelial cells and transformed patient cells. Primary human MPN cells showed masses of modified tubulin that colocalized with centrin, Smoothened (Smo, IFT88, and Arl13b. This is distinct from acute myeloid leukemia (AML cells, which are not associated with centrosome-kinase fusions and had normal centrosomes. Our results suggest that effective proliferative MPN signaling requires both subcellular localization and dimerization of MPN kinases, both of which may be provided by centrosome protein fusion partners. Furthermore, centrosome disruption may contribute to the MPN transformation phenotype.

  12. A case series of clinically undiagnosed hematopoietic neoplasms discovered at autopsy.

    Science.gov (United States)

    Podduturi, Varsha; Guileyardo, Joseph M; Soto, Luis R; Krause, John R

    2015-06-01

    In the United States, autopsy rates have diminished to less than 5% during the last half of the 20th century and the beginning of the 21st century for a multitude of reasons. Many believe this results in unrecognized malignancies that could have explained a patient's death. We describe six deaths in which hematopoietic neoplasms were identified at autopsy but were not diagnosed clinically. The six undiagnosed hematopoietic malignancy cases discovered at autopsy include four men and two women ranging from 50 to 78 years of age. One patient was African American and five patients were white, all with multiple comorbidities. The tumors included diffuse large B-cell lymphoma, activated B-cell type, intravascular large B-cell lymphoma, ALK-negative anaplastic large cell lymphoma arising in a setting of human immunodeficiency virus, and a myeloid sarcoma. These cases illustrate the importance of the traditional postmortem examination in not only confirming clinical diagnoses but also identifying previously unknown diagnoses. Hematologic malignancies may present with nonspecific clinical manifestations, and this series of cases also emphasizes the necessity for widening the differential diagnosis in patients with unexplained lactic acidosis and hepatic failure to include hematopoietic malignancies since prompt treatment may be lifesaving. Copyright© by the American Society for Clinical Pathology.

  13. Unique presentation of blastic plasmacytoid dendritic cell neoplasm: a single-center experience and literature review.

    Science.gov (United States)

    Paluri, Ravi; Nabell, Lisle; Borak, Samuel; Peker, Deniz

    2015-12-01

    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive hematological malignancy derived from precursors of plasmacytoid dendritic cells. Very few cases of BPDCN have been described with lack of skin manifestations at the time of diagnosis. Here we report two rare non-cutaneous presentations of BPDCN without obvious skin lesions at our institution and also the literature review. Our first patient had a unique presentation of BPDCN confined to the sinonasal region with central nervous system involvement. The second patient we report is also atypical with regard to widespread disease that uncharacteristically spared the skin and bone marrow. BPDCN is a rare hematological malignancy involving immature plasmacytoid dendritic cells. It poses a diagnostic challenge requiring multidisciplinary approach to manage this disease. It is important to identify effective therapies for both cutaneous and non-cutaneous presentations of BPDCN, since most cases are uniformly fatal with conventional chemotherapy alone. High-dose induction therapy based on acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL) regimens, to achieve complete remission followed by allo-hematopoietic stem cell transplantation from related or unrelated donors is recommended to improve long-term survival in these patients. Larger scale studies are warranted to understand the pathophysiology of the disease and the important prognostic indicators for optimal management. Copyright © 2014 John Wiley & Sons, Ltd.

  14. A rapid, highly accurate method for quantifying CALR mutant allele burden in persons with myeloproliferative neoplasms.

    Science.gov (United States)

    Yao, Qiu-Mei; Zhou, Jiao; Gale, Robert Peter; Li, Jin-Lan; Li, Ling-Di; Li, Ning; Chen, Shan-Shan; Ruan, Guo-Rui

    2015-10-01

    Calreticulin (CALR) mutations were recently identified in a substantial proportion of persons with essential thrombocythemia (ET) and with primary myelofibrosis (PMF) without JAK2(V617F). Consequently rapid, sensitive, and specific methods to detect and quantify these mutations are needed. We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). Detection of CALR exon 9 mutations was done by PCR amplification followed by fragment length analysis and direct sequencing. Dilution assays were used to determine CALR mutant allele burden. We detected CALR mutations in blood and bone marrow samples from 152 subjects with ET and with PMF but not in samples from normal or persons with PV, CML, or HES. CALR mutant peaks were distinct from wild-type peaks and dilution experiments indicated a sensitivity level of 0.5-5% for a CALR mutant allele in a wild-type background. Diverse types of mutations were detected including deletions, insertions, and complex indels. All mutations were confirmed by direct sequencing. We also used dilution experiments to quantify mutant allele burden. We were able to reproducibly detect mutant allele levels as low 5% (0.5-5%) in a wild-type background. PCR amplification followed by fragment length analysis is a rapid, sensitive, and specific method for screening persons with MPNs for CALR mutations, especially those with ET and PMF and for estimating mutant allele burden.

  15. JAK2/IDH-mutant–driven myeloproliferative neoplasm is sensitive to combined targeted inhibition

    Science.gov (United States)

    McKenney, Anna Sophia; Somasundara, Amritha Varshini Hanasoge; Spitzer, Barbara; Intlekofer, Andrew M.; Ahn, Jihae; Shank, Kaitlyn; Rapaport, Franck T.; Patel, Minal A.; Papalexi, Efthymia; Shih, Alan H.; Chiu, April; Freinkman, Elizaveta; Akbay, Esra A.; Steadman, Mya; Nagaraja, Raj; Yen, Katharine; Teruya-Feldstein, Julie; Wong, Kwok-Kin; Rampal, Raajit; Thompson, Craig B.

    2018-01-01

    Patients with myeloproliferative neoplasms (MPNs) frequently progress to bone marrow failure or acute myeloid leukemia (AML), and mutations in epigenetic regulators such as the metabolic enzyme isocitrate dehydrogenase (IDH) are associated with poor outcomes. Here, we showed that combined expression of Jak2V617F and mutant IDH1R132H or Idh2R140Q induces MPN progression, alters stem/progenitor cell function, and impairs differentiation in mice. Jak2V617F Idh2R140Q–mutant MPNs were sensitive to small-molecule inhibition of IDH. Combined inhibition of JAK2 and IDH2 normalized the stem and progenitor cell compartments in the murine model and reduced disease burden to a greater extent than was seen with JAK inhibition alone. In addition, combined JAK2 and IDH2 inhibitor treatment also reversed aberrant gene expression in MPN stem cells and reversed the metabolite perturbations induced by concurrent JAK2 and IDH2 mutations. Combined JAK2 and IDH2 inhibitor therapy also showed cooperative efficacy in cells from MPN patients with both JAK2mut and IDH2mut mutations. Taken together, these data suggest that combined JAK and IDH inhibition may offer a therapeutic advantage in this high-risk MPN subtype. PMID:29355841

  16. SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome.

    Science.gov (United States)

    Linder, Katherine; Iragavarapu, Chaitanya; Liu, Delong

    2017-01-01

    Myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndrome has been described since the 2001 WHO classification as disorders that have both proliferative and dysplastic changes simultaneously. Specific disorders include chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), BCR-ABL negative atypical chronic myeloid leukemia (aCML) and unclassifiable MDS/MPN (MPN/MDS-U). Recurrent gene mutations in these conditions have been described. Among them, SETBP1 mutations have been identified in up to 32% of aCML, 24% of JMML, 18% of CMML and 10% of MDS/MPN-U patients. The mutation hotspot lies in the amino acid residues 858-871 in the SETBP1 protein. SETBP1 mutations in MDS/MPN overlap syndrome is associated with accelerated transformation to leukemia and poor prognosis. In this review, we summarized the latest data on the role of SETBP1 mutations in the overlap syndrome. SETBP1 mutations may serve as a biomarker for the diagnosis and poor prognosis of the overlap syndrome.

  17. Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis.

    Science.gov (United States)

    Kayser, Sabine; Levis, Mark J; Schlenk, Richard F

    2017-11-01

    A number of tyrosine kinase inhibitors (TKIs) have been developed that inhibit the constitutively activated kinase activity caused by activating tyrosine kinase mutations, such as FLT3 or KIT, thus interrupting signaling pathways. Currently, midostaurin is the only approved TKI as monotherapy for aggressive systemic mastocytosis (SM), SM with associated hematological neoplasm, or mast cell leukemia displaying a KIT mutation as well as in combination with standard intensive chemotherapy for adult patients with newly diagnosed FLT3-mutated acute myeloid leukemia (AML). Areas covered: We provide a concise review of the pharmacology, tolerability and clinical efficacy of midostaurin and emerging new treatment options for ASM and FLT3-mutated AML. Expert commentary: Currently, midostaurin is the only approved TKI in aggressive SM, SM with associated hematological neoplasm, or mast cell leukemia inducing responses including complete remissions. With regard to AML, midostaurin is the first drug to receive regulatory approval in this indication in the molecularly defined subgroup of AML with FLT3 mutations. By introduction of this new standard in AML with FLT3 mutations, the bare has been raised for future approvals of next generation FLT3 inhibitors which will be based increasingly on head to head comparisons with midostaurin.

  18. Differentiation Therapy of Acute Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    Elzbieta Gocek

    2011-05-01

    Full Text Available Acute Myeloid Leukemia (AML is a predominant acute leukemia among adults, characterized by accumulation of malignantly transformed immature myeloid precursors. A very attractive way to treat myeloid leukemia, which is now called ‘differentiation therapy’, was proposed as in vitro studies have shown that a variety of agents stimulate differentiation of the cell lines isolated from leukemic patients. One of the differentiation-inducing agents, all-trans retinoic acid (ATRA, which can induce granulocytic differentiation in myeloid leukemic cell lines, has been introduced into clinics to treat patients with acute promyelocytic leukemia (APL in which a PML-RARA fusion protein is generated by a t(15;17(q22;q12 chromosomal translocation. Because differentiation therapy using ATRA has significantly improved prognosis for patients with APL, many efforts have been made to find alternative differentiating agents. Since 1,25-dihydroxyvitamin D3 (1,25D is capable of inducing in vitro monocyte/macrophage differentiation of myeloid leukemic cells, clinical trials have been performed to estimate its potential to treat patients with AML or myelodysplastic syndrome (MDS. Unfortunately therapeutic concentrations of 1,25D can induce potentially fatal systemic hypercalcemia, thus limiting clinical utility of that compound. Attempts to overcome this problem have focused on the synthesis of 1,25D analogs (VDAs which retain differentiation inducing potential, but lack its hypercalcemic effects. This review aims to discuss current problems and potential solutions in differentiation therapy of AML.

  19. Differentiation Therapy of Acute Myeloid Leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Gocek, Elzbieta; Marcinkowska, Ewa, E-mail: ema@cs.uni.wroc.pl [Department of Biotechnology, University of Wroclaw, ul Tamka 2, Wroclaw 50-137 (Poland)

    2011-05-16

    Acute Myeloid Leukemia (AML) is a predominant acute leukemia among adults, characterized by accumulation of malignantly transformed immature myeloid precursors. A very attractive way to treat myeloid leukemia, which is now called ‘differentiation therapy’, was proposed as in vitro studies have shown that a variety of agents stimulate differentiation of the cell lines isolated from leukemic patients. One of the differentiation-inducing agents, all-trans retinoic acid (ATRA), which can induce granulocytic differentiation in myeloid leukemic cell lines, has been introduced into clinics to treat patients with acute promyelocytic leukemia (APL) in which a PML-RARA fusion protein is generated by a t(15;17)(q22;q12) chromosomal translocation. Because differentiation therapy using ATRA has significantly improved prognosis for patients with APL, many efforts have been made to find alternative differentiating agents. Since 1,25-dihydroxyvitamin D{sub 3} (1,25D) is capable of inducing in vitro monocyte/macrophage differentiation of myeloid leukemic cells, clinical trials have been performed to estimate its potential to treat patients with AML or myelodysplastic syndrome (MDS). Unfortunately therapeutic concentrations of 1,25D can induce potentially fatal systemic hypercalcemia, thus limiting clinical utility of that compound. Attempts to overcome this problem have focused on the synthesis of 1,25D analogs (VDAs) which retain differentiation inducing potential, but lack its hypercalcemic effects. This review aims to discuss current problems and potential solutions in differentiation therapy of AML.

  20. Nucleophosmin 1 expression in acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Mohammad Davoudi

    2015-09-01

    Full Text Available Nucleophosmin1 is a multifunctional protein that shuttles between nucleus and cytoplasm in some subtypes of acute myeloid leukemias. Mutated Nucleophosmin1 expresses aberrantly in the cytoplasm of the cell and transports from nucleolus to the cytoplasm. It is diagnosed by immunohistochemical techniques, flow cytometry assay and mutational analysis.The aim of this study is to evaluate the effects of Nucleophosmin1 mutation on the clinical presentations, prognosis, diagnosis and the treatment of acute myeloid leukemia. Thirteen articles were extracted from PubMed, Google scholar and Scopus in which the Nucleophosmin1 mutation correlated with gingival hyperplasia, high white blood cell count, lymphadenopathy, high platelet count and other signs and symptoms of myelomonocytic and monocytic acute myeloid leukemias. This mutation is a provisional entity in the classification of acute myeloid leukemia, which influences on the prognosis, clinical course and the treatment of some subtypes of acute myeloid leukemias. Nucleophosmin1 mutation has favorable prognostic value in the absence of other concomitant mutations.

  1. Blastic plasmacytoid dendritic cell neoplasm presenting as leukemia without cutaneous involvement in a 25 years male patient: Unusual presentation of a rare entity

    Directory of Open Access Journals (Sweden)

    Sumaira Qayoom

    2015-01-01

    Full Text Available Blastic plasmacytoid dendritic cell neoplasm (BPDCN is a rare, aggressive neoplasm classified under "acute myeloid leukemia (AML and related precursor neoplasm" by current WHO classification. Elderly male are commonly affected with cutaneous lesion being the hallmark of disease presentation. The disease progresses rapidly and sooner or later involves bone marrow and peripheral blood. Cases presenting primarily as leukemia without cutaneous involvement is a rarity with about 29 cases reported in literature till date. Characteristic immunophenotype of CD4 + /CD56 +/− cells expressing antigens associated with plasmacytoid dendritic cells like CD123, TCL1, BDCA2/CD303, cutaneous lymphocyte-associated and interferon dependent molecule MxA, in absence of any other lineage specific marker confirms the diagnosis. The disease has a poor survival and no standardized therapeutic strategy in the current scenario. A case of 25-year-male presenting with leukemic BPDCN without cutaneous involvement is presented here, who was treated with AML like protocol followed by hematopoietic stem cell transplantation, but succumbed to the disease within 8 months of diagnosis. The present case is being first to be reported from India.

  2. anti-retroviral therapy related liver injury (arli): a series of 11 cases

    African Journals Online (AJOL)

    2013-12-02

    Dec 2, 2013 ... ANTI-RETROVIRAL THERAPY RELATED LIVER INJURY (ARLI): A SERIES OF 11 CASES. A. E. O. Otedo, MBChB, MMed ... Background: HIV Anti-retroviral therapy (ART) related liver injury (ARLI) is associated with elevated liver .... and the patients were given palliative and supportive care as in-patients; ...

  3. Myeloid sarcomas: a histologic, immunohistochemical, and cytogenetic study

    Directory of Open Access Journals (Sweden)

    Rodgers William H

    2007-10-01

    Full Text Available Abstract Context. - Myeloid sarcoma (MS is a neoplasm of immature granulocytes, monocytes, or both involving any extramedullary site. The correct diagnosis of MS is important for adequate therapy, which is often delayed because of a high misdiagnosis rate. Objective. - To evaluate the lineage differentiation of neoplastic cells in MS by immunohistochemistry, and to correlate the results with clinicopathologic findings and cytogenetic studies. Design. - Histologic and immunohistochemical examinations were performed on formalin-fixed paraffin-embedded tissue samples from 13 cases of MS. They were classified according to the World Health Organization criteria. Chromosomal analysis data were available in 11 cases. Clinical, pathological, and cytogenetic findings were analyzed. Results. - The study included six male and seven female patients with an age range of 25 to 72 years (mean, 49.3 years and a male to female ratio of 1:1.2. MS de novo occurred in 4/13 (31% of cases examined. The most sensitive immunohistochemical markers were CD43 and lysozyme present in all cases with MS (13/13, 100%. All de novo MS showed a normal karyotype, monoblastic differentiation, and lack of CD34. The most common chromosomal abnormalities in MS associated with a hematopoietic disorder were trisomy 8 and inv(16 (2/11, 18%. Conclusion. - An immunohistochemical panel including CD43, lysozyme, myeloperoxidase (MPO, CD68 (or CD163, CD117, CD3 and CD20 can successfully identify the vast majority of MS variants in formalin-fixed paraffin-embedded tissue sections. The present report expands the spectrum of our knowledge showing that de novo MS has frequent monoblastic differentiation and frequently carries a normal karyotype.

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  16. Intracholecystic papillary-tubular neoplasm of the gallbladder presenting

    Directory of Open Access Journals (Sweden)

    John M. McClellan

    2017-10-01

    Full Text Available Our patient is 15-year-old previously healthy female with recent episodes of postprandial right upper quadrant pain now presenting with symptomatic cholelithiasis and suspected choledocholithiasis. The patient underwent an endoscopic retrograde cholangiopancreatography (ERCP confirming choledocholithiasis and then eventual routine, uncomplicated laparoscopic cholecystectomy. Pathological examination of gallbladder revealed cholelithiasis as well as a noninvasive complex tubular-intracholecystic papillary-tubular neoplasm (ICPN. Expert and literature review of this diagnosis revealed that this lesion is an uncommon, premalignant neoplasm similar to intraductal papillary neoplasms (IPNs in the bile ducts as well as intraductal papillary mucinous neoplasms (IPMNs in the pancreas. Our case is the first ICPN reported in a pediatric patient, and they are almost always diagnosed upon pathological evaluation. The features of our patient's lesion were supportive of a benign etiology with a good prognosis, but certain characteristics such as architectural pattern, rate of dysplasia, and cell lineage predict invasion and subsequent management strategies.

  17. Differential Diagnosis in Neuroendocrine Neoplasms of the Larynx

    NARCIS (Netherlands)

    Hunt, Jennifer L; Ferlito, Alfio; Hellquist, Henrik; Rinaldo, Alessandra; Skálová, Alena; Slootweg, Pieter J; Willems, Stefan M; Cardesa, Antonio

    2017-01-01

    The differential diagnosis of neuroendocrine neoplasms of the larynx is broad and includes lesions of epithelial, mesenchymal, and neuroectodermal origin. These lesions have overlapping clinical and pathologic aspects and must be carefully considered in the differential diagnosis of laryngeal

  18. Eponyms in cardiothoracic radiology: Part I. Neoplasms.

    Science.gov (United States)

    Mohammed, Tan-Lucien H; Saettele, Megan R; Saettele, Timothy; Patel, Vikas; Kanne, Jeffrey P

    2014-01-01

    Eponyms serve the purpose of honoring individuals who have made important observations and discoveries. As with other fields of medicine, eponyms are frequently encountered in radiology, particularly in chest radiology. However, inappropriate use of an eponym may lead to potentially dangerous miscommunication. Moreover, an eponym may honor the incorrect person or a person who falls into disrepute. Despite their limitations, eponyms are still widespread in medical literature. Furthermore, in some circumstances, more than one individual may have contributed to the description or discovery of a particular anatomical structure or disease, whereas in others, an eponym may have been incorrectly applied initially and propagated for years in medical literature. Nevertheless, radiologic eponyms are a means of honoring those who have made lasting contributions to the field of radiology, and familiarity with these eponyms is critical for proper reporting and accurate communication. In addition, the acquisition of some historical knowledge about those whose names are associated with various structures or pathologic conditions conveys a sense of humanity in the field of medicine. In this article, the first of a multipart series, the authors discuss a number of chest radiology eponyms as they relate to neoplasms, including relevant clinical and imaging features, as well biographic information of the respective eponym׳s namesake. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. The Hematopoietic Niche in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Annette H. Schmitt-Graeff

    2015-01-01

    Full Text Available Specialized microanatomical areas of the bone marrow provide the signals that are mandatory for the maintenance and regulation of hematopoietic stem cells (HSCs and progenitor cells. A complex microenvironment adjacent to the marrow vasculature (vascular niche and close to the endosteum (endosteal niche harbors multiple cell types including mesenchymal stromal cells and their derivatives such as CAR cells expressing high levels of chemokines C-X-C motif ligand 12 and early osteoblastic lineage cells, endothelial cells, and megakaryocytes. The characterization of the cellular and molecular networks operating in the HSC niche has opened new perspectives for the understanding of the bidirectional cross-talk between HSCs and stromal cell populations in normal and malignant conditions. A structural and functional remodeling of the niche may contribute to the development of myeloproliferative neoplasms (MPN. Malignant HSCs may alter the function and survival of MSCs that do not belong to the neoplastic clone. For example, a regression of nestin+ MSCs by apoptosis has been attributed to neuroglial damage in MPN. Nonneoplastic MSCs in turn can promote aggressiveness and drug resistance of malignant cells. In the future, strategies to counteract the pathological interaction between the niche and neoplastic HSCs may offer additional treatment strategies for MPN patients.

  20. Testicular myeloid sarcoma: a rare manifestation of acute myeloid leukemia in an infant.

    Science.gov (United States)

    Tran, Christine N; Collie, Angela M B; Flagg, Aron; Rhee, Audrey

    2014-10-01

    Myeloid sarcoma manifesting in the testis is rare and may occur concomitantly with bone marrow disease or as a separate entity. We describe our experience with a 6-month-old boy who presented with painless scrotal swelling and was found to have bilateral testicular masses on ultrasonography. The patient underwent unilateral radical inguinal orchiectomy. Surgical pathology revealed myeloid sarcoma of the testicle. He developed peripheral blood involvement 1 week postoperatively. Bone marrow biopsy showed acute myeloid leukemia. He is in remission after 2 cycles of induction chemotherapy, local radiation therapy, and allogeneic bone marrow transplantation. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. [The diagnostic challenge of a rare pulmonary neoplasm].

    Science.gov (United States)

    Oliveira, Eurico; Manuel, Paula; Alexandre, João; Campos, Ana; Simões Torres, António; Girão, Fernando

    2012-01-01

    Primary pulmonary sarcomas account for less than 0.5% of all thoracic neoplasms. They're aggressive tumors arising in mesenchymal cells from the bronchial walls, vessels or pulmonary interstitium. The authors present a patient in which the diagnostic pathway ended with the diagnosis of a primary pulmonary leiomyosarcoma. This case was a true challenge, illustrative of the difficulty associated with this type of neoplasm, but also regarding its aggressiveness, considering its rapid and fatal progression.

  2. Squamous neoplasms arising within tattoos: clinical presentation, histopathology and management.

    Science.gov (United States)

    Junqueira, A L; Wanat, K A; Farah, R S

    2017-08-01

    Tattooing, which involves the placement of ink into the skin, is an ancient decorative technique that has remained popular in modern society. Tattoos have long been known to cause cutaneous reactions, which include the emergence of neoplasms such as keratoacanthoma (KA) and squamous cell carcinoma (SCC) in tattooed areas of the skin. We review the clinical presentations, histology and treatment options for squamous neoplasms, primarily KA and SCC, arising in tattoos. © 2017 British Association of Dermatologists.

  3. Plurihormonal Cosecretion by a Case of Adrenocortical Oncocytic Neoplasm

    Directory of Open Access Journals (Sweden)

    J. J. Corrales

    2016-01-01

    Full Text Available Adrenocortical oncocytic neoplasms (oncocytomas are extremely rare; only approximately 159 cases have been described so far. The majority are nonfunctional and benign. We describe an unusual case of a functional oncocytoma secreting an excess of glucocorticoids (cortisol and androgens (androstenedione and DHEAS, a pattern of plurihormonal cosecretion previously not reported in men, presenting with endocrine manifestations of Cushing’s syndrome. The neoplasm was considered to be of uncertain malignant potential (borderline according to the Lin-Weiss-Bisceglia criteria.

  4. Clofarabine, Cytarabine, and G-CSF in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia

    Science.gov (United States)

    2017-10-04

    Acute Myeloid Leukemia; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Promyelocytic Leukemia (M3); Recurrent Adult Acute Myeloid Leukemia

  5. Cystic micropapillary neoplasm of peribiliary glands with concomitant perihilar cholangiocarcinoma.

    Science.gov (United States)

    Uchida, Tsuneyuki; Yamamoto, Yusuke; Ito, Takaaki; Okamura, Yukiyasu; Sugiura, Teiichi; Uesaka, Katsuhiko; Nakanuma, Yasuni

    2016-02-21

    We report a case of a 75-year-old man with cystic micropapillary neoplasm of peribiliary glands detected preoperatively by radiologic examination. Enhanced computed tomography showed a low-density mass 2.2 cm in diameter in the right hepatic hilum and a cystic lesion around the common hepatic duct. Under a diagnosis of perihilar cholangiocarcinoma, right hepatectomy with caudate lobectomy and bile duct resection were performed. Pathological examination revealed perihilar cholangiocarcinoma mainly involving the right hepatic duct. The cystic lesion was multilocular and covered by columnar lining epithelia exhibiting increased proliferative activity and p53 nuclear expression; it also contained foci of micropapillary and glandular proliferation. Therefore, the lesion was diagnosed as a cystic micropapillary neoplasm of peribiliary glands and resembled flat branch-type intraductal papillary mucinous neoplasm of the pancreas. Histological examination showed the lesion was discontinuous with the perihilar cholangiocarcinoma. Immunohistochemistry showed the cystic neoplasm was strongly positive for MUC6 and that the cholangiocarcinoma was strongly positive for MUC5AC and S100P. These results suggest these two lesions have different origins. This case warrants further study on whether this type of neoplasm is associated with concomitant cholangiocarcinoma as observed in pancreatic intraductal papillary mucinous neoplasm with concomitant pancreatic duct adenocarcinoma.

  6. Cystic micropapillary neoplasm of peribiliary glands with concomitant perihilar cholangiocarcinoma

    Science.gov (United States)

    Uchida, Tsuneyuki; Yamamoto, Yusuke; Ito, Takaaki; Okamura, Yukiyasu; Sugiura, Teiichi; Uesaka, Katsuhiko; Nakanuma, Yasuni

    2016-01-01

    We report a case of a 75-year-old man with cystic micropapillary neoplasm of peribiliary glands detected preoperatively by radiologic examination. Enhanced computed tomography showed a low-density mass 2.2 cm in diameter in the right hepatic hilum and a cystic lesion around the common hepatic duct. Under a diagnosis of perihilar cholangiocarcinoma, right hepatectomy with caudate lobectomy and bile duct resection were performed. Pathological examination revealed perihilar cholangiocarcinoma mainly involving the right hepatic duct. The cystic lesion was multilocular and covered by columnar lining epithelia exhibiting increased proliferative activity and p53 nuclear expression; it also contained foci of micropapillary and glandular proliferation. Therefore, the lesion was diagnosed as a cystic micropapillary neoplasm of peribiliary glands and resembled flat branch-type intraductal papillary mucinous neoplasm of the pancreas. Histological examination showed the lesion was discontinuous with the perihilar cholangiocarcinoma. Immunohistochemistry showed the cystic neoplasm was strongly positive for MUC6 and that the cholangiocarcinoma was strongly positive for MUC5AC and S100P. These results suggest these two lesions have different origins. This case warrants further study on whether this type of neoplasm is associated with concomitant cholangiocarcinoma as observed in pancreatic intraductal papillary mucinous neoplasm with concomitant pancreatic duct adenocarcinoma. PMID:26900302

  7. CT characteristics of primary retroperitoneal neoplasms in children

    Energy Technology Data Exchange (ETDEWEB)

    Xu Yufeng; Wang Jichen [Department of Radiology, Peking University First Hospital, No. 8, Xishike Street, Xicheng District, Beijing 100034 (China); Peng Yun [Imaging Center, Beijing Children' s Hospital Affiliated to Capital Medical University, 56, Nanlishi Road, Xicheng District, Beijing 100045 (China); Zeng Jinjin, E-mail: jzeng5567@yahoo.co [Imaging Center, Beijing Children' s Hospital Affiliated to Capital Medical University, 56, Nanlishi Road, Xicheng District, Beijing 100045 (China)

    2010-09-15

    Primary retroperitoneal neoplasms are uncommon in children. Retroperitoneal neoplasms are either mesodermal, neurogenic, germ cell ectodermal or lymphatic in origin. In general, primary retroperitoneal neoplasms in children have different spectrum and prevalence compared to those in adults. Neuroblastoma, rhabdomyosarcoma, benign teratoma and lymphoma are the common retroperitoneal neoplasms. In this review, the clinical and CT futures of common retroperitoneal neoplasms in children are described. Coarse, amorphous, and mottled calcification are very common in neuroblastoma. Paraganglioma tends to show marked and early enhancement and may present with clinical symptoms associated with the excess catecholamine. Sarcomas are often very large and have heterogeneous appearance. Imaging cannot be reliably used to identify the type of retroperitoneal sarcomas due to overlapped radiographic features. In children, lipoblastoma is the most common lipomatous tumor in the retroperitoneum. The percentage of visible fat in tumor varies depending on the cellular composition of the lesion. The CT characteristics of teratoma are quite variable, which may be cystic, solid, on a combination of both. Typically teratoma appears as a large complex mass containing fluid, fat, fat-fluid level, and calcifications. Lymphoma is often homogeneous on both enhanced and unenhanced CT scans. Necrosis and calcification are rare on CT. In conclusion, making a final histological diagnosis of retroperitoneal tumor base on CT features is not often possible; however, CT can help to develop a differential diagnosis and determine the size and extent of the retroperitoneal neoplasms.

  8. Intraductal papillary neoplasm of the bile duct: A biliary equivalent to intraductal papillary mucinous neoplasm of the pancreas?

    National Research Council Canada - National Science Library

    Rocha, Flavio G; Lee, Hwajeong; Katabi, Nora; DeMatteo, Ronald P; Fong, Yuman; D'Angelica, Michael I; Allen, Peter J; Klimstra, David S; Jarnagin, William R

    2012-01-01

    Intraductal papillary neoplasm of the bile duct (IPNB) is a variant of bile duct carcinoma characterized by intraductal growth and better outcome compared with the more common nodular‐sclerosing type...

  9. Mixed Neuroendocrine-Nonneuroendocrine Neoplasms (MiNENs): Unifying the Concept of a Heterogeneous Group of Neoplasms.

    Science.gov (United States)

    La Rosa, Stefano; Sessa, Fausto; Uccella, Silvia

    2016-12-01

    The wide application of immunohistochemistry to the study of tumors has led to the recognition that epithelial neoplasms composed of both a neuroendocrine and nonneuroendocrine component are not as rare as traditionally believed. It has been recommended that mixed neuroendocrine-nonneuroendocrine epithelial neoplasms are classified as only those in which either component represents at least 30 % of the lesion but this cutoff has not been universally accepted. Moreover, since their pathogenetic and clinical features are still unclear, mixed neuroendocrine-nonneuroendocrine epithelial neoplasms are not included as a separate clinicopathological entity in most WHO classifications, although they have been observed in virtually all organs. In the WHO classification of digestive tumors, mixed neuroendocrine-nonneuroendocrine neoplasm is considered a specific type and is defined as mixed adenoneuroendocrine carcinoma, a definition that has not been accepted for other organs. In fact, this term does not adequately convey the morphological and biological heterogeneity of digestive mixed neoplasms and has created some misunderstanding among both pathologists and clinicians. In the present study, we have reviewed the literature on mixed neuroendocrine-nonneuroendocrine epithelial neoplasms reported in the pituitary, thyroid, nasal cavity, larynx, lung, digestive system, urinary system, male and female genital organs, and skin to give the reader an overview of the most important clinicopathological features and morphological criteria for diagnosing each entity. We also propose to use the term "mixed neuroendocrine-nonneuroendocrine neoplasm (MiNEN)" to define and to unify the concept of this heterogeneous group of neoplasms, which show different characteristics mainly depending on the type of neuroendocrine and nonneuroendocrine components.

  10. Gallbladder papillary neoplasms share pathological features with intraductal papillary neoplasm of the bile duct.

    Science.gov (United States)

    Wan, Xueshuai; Shi, Jie; Wang, Anqiang; Xie, Yuan; Yang, Xiaobo; Zhu, Chengpei; Zhang, Haohai; Wu, Liangcai; Wang, Shanshan; Huang, Hanchun; Lin, Jianzhen; Zheng, Yongchang; Liang, Zhiyong; Sang, Xinting; Zhao, Haitao

    2017-05-09

    Intraductal papillary neoplasm of the bile duct (IPNB) has been widely recognized. However, the knowledge of intracystic papillary neoplasm of the gallbladder (IPNG) including papillary adenoma and adenocarcinoma is not well defined. In this study, we compared the clinicopathological and immunohistochemical features between 32 IPNG cases and 32 IPNB cases. IPNG-1 (low-high grade dysplasia) exhibited an earlier onset age, smaller tumor size and lower level of CK20 expression compared to IPNG-2 (invasive carcinoma). Histologically, pancreaticobiliary and intestinal subtype accounted for nearly half of IPNG or IPNB (44.4% and 48.1% vs. 44.0% and 44.0%), respectively. Immunohistochemically, 88.9% of IPNG and 92.0% of IPNB cases were positive for MUC1, and 96.3% and 92.0% for CK7, respectively. CDX2 and MUC2 were more highly expressed in the intestinal subtype than in other subtypes. CK20 expression increased in parallel with tumor progression. In addition, 53.1% of IPNG cases and 68.6% of IPNB cases exhibited invasive carcinoma, and showed significant survival advantages to conventional gallbladder adenocarcinoma and cholangiocarcinoma, respectively. In conclusion, papillary adenoma and adenocarcinoma of the gallbladder can be recognized as different pathological stages of IPNG, and they share pathological features with IPNB.

  11. BCR-ABL1- positive chronic myeloid leukemia with erythrocytosis presenting as polycythemia vera: a case report.

    Science.gov (United States)

    Cornea, Mihaela I Precup; Levrat, Emmanuel; Pugin, Paul; Betticher, Daniel C

    2015-04-08

    The World Health Organization classification of chronic myeloproliferative disease encompasses eight entities of bone marrow neoplasms, among them Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-positive chronic myeloid leukemia and polycythemia vera. Polycythemia vera requires, in the majority of cases (95%), the negativity of Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 rearrangement and the presence of the Janus kinase 2 mutation. We report a case of erythrocytosis as the primary manifestation of a chronic myeloid leukemia, with the presence of the Philadelphia chromosome and the Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 fusion gene, and in the absence of any Janus kinase 2 mutation. A 68-year-old Caucasian woman, with a history of cigarette consumption and obstructive sleep apnoea syndrome (undergoing continuous positive airway pressure treatment) had presented to our institution with fatigue and a hemoglobin level of 18.6g/L, with slight leukocytosis at 16G/L, and no other anomalies on her complete blood cell count. Examination of her arterial blood gases found only a slight hypoxemia; erythropoietin and ferritin levels were very low and could not explain a secondary erythrocytosis. Further analyses revealed the absence of any Janus kinase 2 mutation, thus excluding polycythemia vera. Taken together with a high vitamin B12 level, we conducted a Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 gene analysis and bone marrow cytogenetic analysis, both of which returned positive, leading to the diagnosis of chronic myeloid leukemia. To date, this case is the first description of a Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-positive chronic myeloid leukemia, presenting with erythrocytosis as the initial manifestation, and mimicking a Janus kinase 2 V617F-negative polycythemia vera. Her impressive response to imatinib

  12. Genetic variation as a modifier of association between therapeutic exposure and subsequent malignant neoplasms in cancer survivors.

    Science.gov (United States)

    Bhatia, Smita

    2015-03-01

    Subsequent malignant neoplasms (SMNs) are associated with significant morbidity and are a major cause of premature mortality among cancer survivors. Several large studies have demonstrated a strong association between the radiation and/or chemotherapy used to treat primary cancer and the risk of developing SMNs. However, for any given therapeutic exposure, the risk of developing an SMN varies between individuals. Genomic variation can potentially modify the association between therapeutic exposures and SMN risk and may explain the observed interindividual variability. In this review, the author provides a brief overview of the current knowledge regarding the role of genomic variation in the development of therapy-related SMNs and discusses the methodological challenges in undertaking an endeavor to develop a deeper understanding of the molecular underpinnings of therapy-related SMNs, such as an appropriate study design, the identification of an adequately sized study population together with a reliable plan for collecting and maintaining high-quality DNA, clinical validation of the phenotype, and the selection of an appropriate approach or platform for genotyping. Understanding the factors that can modify the risk of treatment-related SMNs is critical to developing targeted intervention strategies and optimizing risk-based health care for cancer survivors. © 2014 American Cancer Society.

  13. MYST3/CREBBP Rearranged Acute Myeloid Leukemia after Adjuvant Chemotherapy for Breast Cancer

    Directory of Open Access Journals (Sweden)

    Arjun Gupta

    2014-01-01

    Full Text Available Although rare, clinicians and patients must be aware that therapy related malignancies, specifically acute myeloid leukemia (AML, can occur as a complication of adjuvant chemotherapy for breast cancer. Vigilance for signs and symptoms is appropriate. AML with t (8;16 is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP. The MYST3/CREBBP AML tends to develop within 2 years of adjuvant chemotherapy, especially for breast cancer, without preceding myelodysplasia. It usually presents with disseminated intravascular coagulation and osteolytic lesions and has a poor prognosis despite aggressive resuscitation and therapy. With the increasing use of adjuvant chemotherapy for breast cancer, we are seeing a definite increase in the incidence of therapy related myelodysplastic syndromes and AML. One must keep this complication in mind while counseling and following up breast cancer patients who have received adjuvant chemotherapy. New osteolytic bone lesions in a patient with history of breast cancer do not necessarily mean metastatic disease and should be fully evaluated.

  14. Topics in histopathology of sweat gland and sebaceous neoplasms.

    Science.gov (United States)

    Ansai, Shin-Ichi

    2017-03-01

    This article reviews several topics regarding sweat gland and sebaceous neoplasms. First, the clinicopathological characteristics of poroid neoplasms are summarized. It was recently reported that one-fourth of poroid neoplasms are composite tumors and one-fourth are apocrine type lesions. Recent progress in the immunohistochemical diagnosis of sweat gland neoplasms is also reviewed. CD117 can help to distinguish sweat gland or sebaceous tumors from other non-Merkel cell epithelial tumors of the skin. For immunohistochemical differential diagnosis between sweat gland carcinoma (SGC) other than primary cutanesous apocrine carcinoma and skin metastasis of breast carcinoma (SMBC), a panel of antibodies may be useful, including p63 (SGC+ , SMBC- ), CK5/6 (SGC+ , SMBC- ), podoplanin (SGC+ , SMBC- ) and mammaglobin (SGC- , SMBC+ ). Comparison of antibodies used for immunohistochemical diagnosis of sebaceous carcinoma (SC) suggests that adipophilin has the highest sensitivity and specificity. Some authors have found that immunostaining for survivin, androgen receptor and ZEB2/SIP1 has prognostic value for ocular SC, but not extraocular SC. In situ SC is rare, especially extraocular SC, but there have been several recent reports that actinic keratosis and Bowen's disease are the source of invasive SC. Finally, based on recent reports, classification of sebaceous neoplasms into three categories is proposed, which are sebaceoma (a benign neoplasm with well-defined architecture and no atypia), borderline sebaceous neoplasm (low-grade SC; an intermediate tumor with well-defined architecture and nuclear atypia) and SC (a malignant tumor with invasive growth and evident nuclear atypia). © 2017 Japanese Dermatological Association.

  15. The new modified ABCD method for gastric neoplasm screening.

    Science.gov (United States)

    Park, Chan Hyuk; Kim, Eun Hye; Jung, Da Hyun; Chung, Hyunsoo; Park, Jun Chul; Shin, Sung Kwan; Lee, Sang Kil; Lee, Yong Chan

    2016-01-01

    The ABCD screening method was developed for risk stratification of gastric cancer. It is unclear whether the ABCD method can predict the risk of gastric neoplasms, including gastric adenomas, as observed for gastric cancer. We aimed to devise a modified ABCD method for predicting gastric neoplasms. We reviewed 562 patients who had undergone upper gastrointestinal tract endoscopy and whose serum IgG anti-Helicobacter pylori antibody, gastrin, and pepsinogen (PG) I and PG II data were available. Patients were classified into the following four groups: H. pylori antibody negative and normal PG level (group A), H. pylori antibody positive and normal PG level (group B), H. pylori antibody positive and low PG level (group C), and H. pylori antibody negative and low PG level (group D). The PG I/PG II ratio was lower in patients with gastric neoplasms than in patients without these lesions (gastric adenoma vs gastric cancer vs no neoplasm, 3.7 ± 2.0 vs 3.8 ± 1.8 vs 4.9 ± 2.1, P neoplasms were 3.1 for H. pylori antibody negative patients and 4.1 for H. pylori antibody positive patients. A higher group grade was associated with a significantly higher proportion of gastric neoplasms [odds ratio (95 % confidence interval), group A, reference; group B, 1.783 (1.007-3.156); group C, 3.807 (2.382-6.085); and group D, 5.862 (2.427-14.155)]. The modified ABCD method using two different cutoff values according to the H. pylori antibody status was useful for predicting the presence of gastric neoplasms. This method might be a supplementary screening tool for both gastric adenoma and gastric cancer. However, further studies will be required to provide a definitive conclusion.

  16. The optimal endoscopic screening interval for detecting early gastric neoplasms.

    Science.gov (United States)

    Park, Chan Hyuk; Kim, Eun Hye; Chung, Hyunsoo; Lee, Hyuk; Park, Jun Chul; Shin, Sung Kwan; Lee, Yong Chan; An, Ji Yeong; Kim, Hyoung-Il; Cheong, Jae-Ho; Hyung, Woo Jin; Noh, Sung Hoon; Kim, Choong Bae; Lee, Sang Kil

    2014-08-01

    The optimal interval between endoscopic examinations for detecting early gastric neoplasms, including gastric adenomas, has not previously been studied. To clarify the optimal interval between endoscopic examinations for the early diagnosis of both gastric cancers and adenomas. Retrospective study. University-affiliated tertiary-care hospital, Seoul, Korea. Patients who were treated for gastric neoplasms between January 2008 and August 2013. Questionnaire survey for interval between the penultimate endoscopy and diagnosis of a gastric neoplasm. A total of 846 patients were divided into 5 groups according to the interval between endoscopic examinations. The proportion of gastric neoplasms treated with endoscopic submucosal dissection and the proportion of advanced gastric cancers according to the interval between endoscopic examinations. In total, 197, 430, and 219 patients were diagnosed with gastric adenoma, early gastric cancer, and advanced gastric cancer, respectively. In multivariate analysis, the proportion of gastric neoplasms treated with endoscopic submucosal dissection was significantly higher in the ≤12 months, 12 to 24 months, and 24 to 36 months endoscopy interval groups than in the no endoscopy within 5 years group (all P gastric cancers was significantly lower in the ≤12 months and 12 to 24 months endoscopy interval groups than in the no endoscopy within 5 years group (all P gastric neoplasms compared with biennial or triennial endoscopy. We recommend biennial endoscopic screening for gastric neoplasms in order to increase the proportion of lesions discovered while they are still endoscopically treatable and to reduce the number of lesions that progress to advanced gastric cancer. Copyright © 2014 American Society for Gastrointestinal Endoscopy. Published by Mosby, Inc. All rights reserved.

  17. [Cost analysis of the colorectal neoplasm screen program in Beijing].

    Science.gov (United States)

    Mao, Ayan; Dong, Pei; Yan, Xiaoling; Hu, Guangyu; Chen, Qingkun; Qiu, Wuqi

    2015-05-01

    To conduct with a cost analysis of the colorectal neoplasm screening program in Beijing, and provide data evidence for decision making. Based on stratified cluster sampling method, we carried out a 2-stage colorectal neoplasm screening program within 6 districts, Dongcheng, Xicheng, Chaoyang, Haidian, Fengtai and Shijingshan, of Beijing city between October, 2012 to May. 2013. The first stage of the program was to conducting a cancer risk level evaluation for community residents who were forty years older and the second stage's task was to providing clinical exam for those high risk people who were selected from the first stage. There were about 12 953 residents were involved in this program. We calculated the main cost of the colorectal neoplasm screen program in Beijing. Then estimate the cost of detecting one Colorectal Neoplasm patient of this program and compare it with the total treatment cost for a patient. 2 487 high risk residents were selected by the first stage and 1 055 of them made appointment for the colonoscopy exam but only 375 accepted the exam, participate rate was 35.5%. 9 neoplasm cancer patients and 71 pre-cancer patient were found at the second stage, the detection rate were 69.2/100 000 and 546/100 000, respectively. The direct input for this neoplasm screening program was 227 100 CNY and the transport expense was 4 200 CNY in the calculations. The cost for detecting one cancer patient was about 19 900 CNY. Comparing with the total medical care cost of a cancer patient (1 282 800 CNY), especially for those have been diagnosed as middle to end stage cancer, the screening program (cost 842 800 CNY) might help to reduce the total health expenditure about 128 700 CNY, based on 12 953 local residents age above 40 years old. An colonoscopy based colorectal neoplasm screening program showed its function on medical expenditure saving and might have advantage on health social labor creating.

  18. Mesenchymal stromal cells in myeloid malignancies.

    Science.gov (United States)

    Schroeder, Thomas; Geyh, Stefanie; Germing, Ulrich; Haas, Rainer

    2016-12-01

    Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) are clonal myeloid disorders characterized by hematopoietic insufficiency. As MDS and AML are considered to originate from genetic and molecular defects of hematopoietic stem and progenitor cells (HSPC), the main focus of research in this field has focused on the characterization of these cells. Recently, the contribution of BM microenvironment to the pathogenesis of myeloid malignancies, in particular MDS and AML has gained more interest. This is based on a better understanding of its physiological role in the regulation of hematopoiesis. Additionally, it was demonstrated as a 'proof of principle' that genetic disruption of cells of the mesenchymal or osteoblastic lineage can induce MDS, MPS or AML in mice. In this review, we summarize the current knowledge about the contribution of the BM microenvironment, in particular mesenchymal stromal cells (MSC) to the pathogenesis of AML and MDS. Furthermore, potential models integrating the BM microenvironment into the pathophysiology of these myeloid disorders are discussed. Finally, strategies to therapeutically exploit this knowledge and to interfere with the crosstalk between clonal hematopoietic cells and altered stem cell niches are introduced.

  19. Luteoloside Inhibits Proliferation of Human Chronic Myeloid ...

    African Journals Online (AJOL)

    Purpose: To investigate the effects of luteoloside on the proliferation of human chronic myeloid leukemia K562 cells and whether luteoloside induces cell cycle arrest and apoptosis in K562 cells. Methods: Luteoloside's cytotoxicity was assessed using a cell counting kit. Cell cycle distribution was analysed by flow cytometry ...

  20. Treatment strategies in acute myeloid leukemia

    NARCIS (Netherlands)

    Han Li-na, [No Value; Zhou Jin, [No Value; Schuringa, Jan Jacob; Vellenga, Edo

    2011-01-01

    Objective To summarize the risk stratification and current treatment strategies for acute myeloid leukemia (AML) and discuss the role of emerging novel agents that might be applied in future clinical trials. Data sources The data in this article were collected from PubMed database with relevant

  1. Chronic myeloid leukemia presented with priapism: Effective ...

    African Journals Online (AJOL)

    2015-02-01

    Feb 1, 2015 ... of sexual stimulation, trauma, previous similar episodes, use of medications or any chronic illness. On physical examination, the patient had pallor. The spleen and liver. Chronic myeloid leukemia presented with priapism: Effective management with prompt leukapheresis. H Ergenc, C Varım, C Karacaer, ...

  2. Acute myeloid leukemia in the vascular niche

    NARCIS (Netherlands)

    Cogle, Christopher R.; Bosse, Raphael C.; Brewer, Takae; Migdady, Yazan; Shirzad, Reza; Kampen, Kim Rosalie; Saki, Najmaldin

    2016-01-01

    The greatest challenge in treating acute myeloid leukemia (AML) is refractory disease. With approximately 60-80% of AML patients dying of relapsed disease, there is an urgent need to define and target mechanisms of drug resistance. Unfortunately, targeting cell-intrinsic resistance has failed to

  3. Plasmacytoid dendritic cell proliferations and neoplasms involving the bone marrow : Summary of the workshop cases submitted to the 18th Meeting of the European Association for Haematopathology (EAHP) organized by the European Bone Marrow Working Group, Basel 2016.

    Science.gov (United States)

    Tzankov, Alexandar; Hebeda, Konnie; Kremer, Markus; Leguit, Roos; Orazi, Attilio; van der Walt, Jon; Gianelli, Umberto

    2017-05-01

    Two distinct forms of neoplasms derived from plasmacytoid dendritic cells (PDC) exist: mature PDC proliferations associated with myeloid neoplasms and blastic PDC neoplasms (BPDCN). Ten cases of PDC proliferations and neoplasms in the bone marrow have been submitted to the bone marrow workshop held at the 18th EAHP meeting. Based on observations from the submitted cases, scattered PDC (≤1% of cells) and PDC aggregates (≤10 PDC/HPF) reflect the normal bone marrow composition, while in myelodysplastic syndromes (MDS), there is a propensity for larger/more PDC aggregates (1-5% and 35 PDC/HPF). A shared PTPN11 mutation between a mature PDC proliferation and an accompanying MDS provides evidence of clonal relationship in such instances and shows that PDC are a part of the malignant clone. CD123 and CD303 should be considered backbone markers to histopathologically establish the diagnosis of BPDCN, since they are detectable in almost all cases and properly well on biopsies subjected to different fixations. Expression of some T-cell markers (e.g., CD2 and CD7 but not CD3), B-cell markers (e.g., CD79a but not CD19 and CD20), and myeloid markers (e.g., CD33 and CD117 but not myeloperoxidase) can be observed in BPDCN. Genetical data of the summarized cases corroborate the important role of chromosomal losses in BPDCN. Together with five previously reported instances, one additional workshop case with MYC rearrangement proposes that translocations of MYC may be recurrent. The frequent nature of deleterious mutations of IKZF3 and deletions of IKZF1 suggests a role for the Ikaros family proteins in BPDCN.

  4. [One-stage repair of pharyngeal defect using tongue flaps after resection of advanced stage hypopharyngeal neoplasm and laryngeal neoplasm].

    Science.gov (United States)

    Han, Yuefeng; Chen, Deshang; Li, Hui; Zhang, Mingjie; Ma, Shiyin; Zhou, Lanzhu

    2012-10-01

    To study the effectiveness of one-stage repairing pharyngeal defect with the tongue flaps after resection of advanced stage hypopharyngeal neoplasm and laryngeal neoplasm. Between June 2006 and March 2011, 20 patients with hypopharyngeal neoplasm (8 cases) and laryngeal neoplasm (12 cases) with advanced stage were treated. There were 19 males and 1 female, aged 47-78 years (mean, 62.8 years). All neoplasms were squamous cell carcinomas. The disease duration was 1-8.5 months (mean, 3.9 months). According to the standards of International Union Against Cancer (UICC, 1987), 12 cases were in stage III and 8 cases were in stage IV. The size of pharyngeal defect was 5 cm x 2 cm to 4 cm x 4 cm after resection of tumor. Defects were repaired by the whole base of the tongue flaps in 16 cases and by the horizontal base of the tongue flaps in 4 cases. The size of the flaps ranged from 5 cm x 2 cm to 4 cm x 4 cm. Postoperative radiotherapy and chemotherapy were regularly performed. The 20 tongue flaps were alive. Healing of incision by first intention was achieved in 18 cases and delayed healing in 2 cases because of subcutaneous fluid. The patients were followed up 12-63 months (mean, 36.7 months). The patients had normal feeding ability and tongue function. Of 20 cases, 12 died and 1 of local recurrence was alive with tumor. The 3-year survival rate was 69.2% (9/13). One-stage repair of pharyngeal defect with the tongue flaps after resection of hypopharyngeal neoplasm and laryngeal neoplasm can obtain good effectiveness because the tongue flap is easy-to-obtain and easy-to-survive, and has abundant blood supply.

  5. Hepatic small vessel neoplasm, a rare infiltrative vascular neoplasm of uncertain malignant potential.

    Science.gov (United States)

    Gill, Ryan M; Buelow, Benjamin; Mather, Cheryl; Joseph, Nancy M; Alves, Venancio; Brunt, Elizabeth M; Liu, Ta-Chiang; Makhlouf, Hala; Marginean, Celia; Nalbantoglu, ILKe; Sempoux, Christine; Snover, Dale C; Thung, Swan N; Yeh, Matthew M; Ferrell, Linda D

    2016-08-01

    Characteristic but rare vascular neoplasms in the adult liver composed of small vessels with an infiltrative border were collected from an international group of collaborators over a 5-year period (N=17). These tumors were termed hepatic small vessel neoplasm (HSVN), and the histologic differential diagnosis was angiosarcoma (AS). The average age of patients was 54years (range, 24-83years). HSVN was more common in men. The average size was 2.1cm (range, 0.2-5.5cm). Diagnosis was aided by immunohistochemical stains for vascular lineage (CD31, CD34, FLI-1), which were uniformly positive in HSVN. Immunohistochemical stains (p53, c-Myc, GLUT-1, and Ki-67) for possible malignant potential are suggestive of a benign/low-grade tumor. Capture-based next-generation sequencing (using an assay that targets the coding regions of more than 500 cancer genes) identified an activating hotspot GNAQ mutation in 2 of 3 (67%) tested samples, and one of these cases also had a hotspot mutation in PIK3CA. When compared with hepatic AS (n=10) and cavernous hemangioma (n=6), the Ki-67 proliferative index is the most helpful tool in excluding AS, which demonstrated a tumor cell proliferative index greater than 10% in all cases. Strong p53 and diffuse c-Myc staining was also significantly associated with AS but not with HSVN or cavernous hemangioma. There have been no cases with rupture/hemorrhage, disseminated intravascular coagulation, or Kasabach-Merritt syndrome. Thus far, there has been no metastasis or recurrence of HSVN, but complete resection and close clinical follow-up are recommended because the outcome remains unknown. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. A Serous Cystic Neoplasm of the Pancreas Coexisting with High-Grade Pancreatic Intraepithelial Neoplasia Mimicking an Intraepithelial Papillary Mucinous Neoplasm: A Case Report.

    Science.gov (United States)

    Kawanishi, Aya; Hirabayashi, Kenichi; Kono, Hirotaka; Takanashi, Yumi; Hadano, Atsuko; Kawashima, Yohei; Ogawa, Masami; Kawaguchi, Yoshiaki; Yamada, Misuzu; Nakagohri, Toshio; Nakamura, Naoya; Mine, Tetsuya

    2017-01-01

    Serous cystic neoplasms of the pancreas are rare exocrine pancreatic neoplasms, most of which are benign and do not communicate with the pancreatic duct. Pancreatic intraepithelial neoplasm (PanIN) is considered a precursor of ductal adenocarcinoma that is microscopically recognized in pancreatic ducts. A 67-year-old Japanese woman presented with a 10-mm multilocular cystic lesion at the pancreatic body. Magnetic resonance pancreatography showed stenosis of the main pancreatic duct at the pancreatic body and dilatation of the distal side of the main pancreatic duct. Furthermore, communication between the cystic lesion and the main pancreatic duct was suspected based on magnetic resonance pancreatography findings. Distal pancreatectomy was performed under the preoperative diagnosis of intraductal papillary mucinous neoplasm. Histologically, the cystic lesion was lined with a non-atypical cuboidal or flat epithelium with clear cytoplasm and was thus diagnosed as a serous cystic neoplasm. High-grade PanIN lesions with stromal fibrosis were observed at the main and branch pancreatic ducts. Histological examination revealed no communication between the serous cystic neoplasm and the pancreatic ducts. Immunohistochemically, the epithelium of the serous cystic neoplasm showed positive anti-von Hippel-Lindau antibody staining, whereas the epithelium of the PanIN showed negative staining. A serous cystic neoplasm coexisting with another pancreatic neoplasm is rare. When dilatation of the main or branch pancreatic ducts coexists with a serous cystic neoplasm, as in this case, the lesion clinically mimics an intraductal papillary mucinous neoplasm.

  7. [Pathologic characteristics of malignant neoplasms occurring in the elderly].

    Science.gov (United States)

    Arai, Tomio; Matsuda, Yoko; Aida, Junko; Takubo, Kaiyo

    2015-08-01

    Malignant neoplasm preferentially occurs in the elderly. Common cancers in the elderly are gastric, colorectal, lung and prostate cancers in men whereas colorectal, lung, gastric and pancreatic cancers in women. There are several characteristic features such as tumor location, histology, biological behavior and pathway of carcinogenesis in malignant neoplasms occurring in the elderly. Multiple cancers increase with aging. Although it is generally believed that carcinoma in the elderly shows well differentiation, slow growth, low incidence of metastasis and favorable prognosis, the tumor does not always show such features. Regarding biological behavior of malignant tumor in the elderly, age-related alterations of the host such as stromal weakness and decreased immune response against cancer cell invasion should be considered as well as characteristics of tumor cell itself. Thus, we need a specific strategy for treatment for malignant neoplasms in the elderly.

  8. Interdisciplinary Management of Cystic Neoplasms of the Pancreas

    Directory of Open Access Journals (Sweden)

    Linda S. Lee

    2012-01-01

    Full Text Available Cystic neoplasms of the pancreas are increasingly recognized due to the frequent use of abdominal imaging. It is reported that up to 20% of abdominal cross-sectional scans identify incidental asymptomatic pancreatic cysts. Proper characterization of pancreatic cystic neoplasms is important not only to recognize premalignant lesions that will require surgical resection, but also to allow nonoperative management of many cystic lesions that will not require resection with its inherent morbidity. Though reliable biomarkers are lacking, a wide spectrum of diagnostic modalities are available to evaluate pancreatic cystic neoplasms, including radiologic, endoscopic, laboratory, and pathologic analysis. An interdisciplinary approach to management of these lesions which incorporates recent, specialty-specific advances in the medical literature is herein suggested.

  9. Surgical management and results for cystic neoplasms of pancreas

    Science.gov (United States)

    Han, Kyung Won; Ha, Ryun; Kim, Kun Kuk; Lee, Jung Nam; Kim, Yeon Suk; Koo, Yang Seo

    2013-01-01

    Backgrounds/Aims The diagnosis for cystic neoplasm of pancreas is based on the morphologic criteria through imaging studies, but the pre- and postoperative diagnoses are often inconsistent. This study aims at the analysis of clinical characteristics and the results of surgical treatments. Methods A retrospective review was performed on 93 patients who have undergone surgery for pancreatic cystic diseases in our hospital from January 2001 to February 2013. Among them, 69 patients were confirmed as cystic neoplasms based on pathologic findings. Their clinical manifestations, diagnostic accuracy, surgical method and complications, pathologic findings were analyzed. Results Serous cystic neoplasm was the most common (n=22), followed by mucinous cystic neoplasm (n=18), intraductal papillary mucinous tumor (n=11), solid pseudopapillary tumor (n=9), neuroendocrine tumor (n=7), and cystic lymphangioma (n=2). The most common clinical symptom is abdominal pains (49.3%). Preoperative imaging studies were consistent with pathological findings in 72% of patients. Cystic fluid CEA levels of 400 ng/ml or more were reliable to detect mucin secreting tumors. Pancreatoduodenectomy was performed for 13 cases and the remaining 54 patients were treated with left-side pancreatectomy. Malignancy was found in 9 cases (13%) of mucin secreting tumors; 5 cases (27.8%) in mucinous cystic neoplasm and 4 cases (36.4%) in intraductal papillary mucinous tumor. Two of these survived without recurrences during the follow-up periods. Conclusions Exact treatment protocols for cystic neoplasm of pancreas are not decided because tumors are found with atypical forms. Surgical management is suggested for resectable tumors because a good prognosis can be expected with proper surgery if precancerous lesions are suspected at the time of discovery. PMID:26155225

  10. Solute carrier transporters: potential targets for digestive system neoplasms.

    Science.gov (United States)

    Xie, Jing; Zhu, Xiao Yan; Liu, Lu Ming; Meng, Zhi Qiang

    2018-01-01

    Digestive system neoplasms are the leading causes of cancer-related death all over the world. Solute carrier (SLC) superfamily is composed of a series of transporters that are ubiquitously expressed in organs and tissues of digestive systems and mediate specific uptake of small molecule substrates in facilitative manner. Given the important role of SLC proteins in maintaining normal functions of digestive system, dysregulation of these protein in digestive system neoplasms may deliver biological and clinical significance that deserves systemic studies. In this review, we critically summarized the recent advances in understanding the role of SLC proteins in digestive system neoplasms. We highlighted that several SLC subfamilies, including metal ion transporters, transporters of glucose and other sugars, transporters of urea, neurotransmitters and biogenic amines, ammonium and choline, inorganic cation/anion transporters, transporters of nucleotide, amino acid and oligopeptide organic anion transporters, transporters of vitamins and cofactors and mitochondrial carrier, may play important roles in mediating the initiation, progression, metastasis, and chemoresistance of digestive system neoplasms. Proteins in these SLC subfamilies may also have diagnostic and prognostic values to particular cancer types. Differential expression of SLC proteins in tumors of digestive system was analyzed by extracting data from human cancer database, which revealed that the roles of SLC proteins may either be dependent on the substrates they transport or be tissue specific. In addition, small molecule modulators that pharmacologically regulate the functions of SLC proteins were discussed for their possible application in the treatment of digestive system neoplasms. This review highlighted the potential of SLC family proteins as drug target for the treatment of digestive system neoplasms.

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  19. Pancreatic mucinous cystic neoplasm in a transgender patient.

    Science.gov (United States)

    Foster, Deshka; Shaikh, Mohammad F; Gleeson, Elizabeth; Babcock, Blake D; Lin, Jianping; Ownbey, Robert T; Hysell, Mark E; Ringold, Daniel; Bowne, Wilbur B

    2015-06-24

    Cystic pancreatic lesions are increasingly more frequent detected clinical entities. Mucinous cystic neoplasm (MCN) is a hormone-related pancreatic tumor (HRTP) with a strong predominance in young and middle-aged females. Here, we present the case of a 31-year-old surgically transgendered female-to-male patient with a history of alcoholic pancreatitis, on chronic testosterone therapy. He was found to have a pancreatic MCN and underwent distal pancreatectomy and splenectomy. To our knowledge, this is the first reported case of a transgender patient with a history of hormone replacement therapy (HRT) and pancreatic MCN. We consider possible mechanisms for the pathogenesis to explain this patient's neoplasm.

  20. Secondary neoplasms of the larynx from a colonic adenocarcinoma

    DEFF Research Database (Denmark)

    Dadkhah, Naser; Hahn, Christoffer

    2015-01-01

    Secondary neoplasms of the larynx are rare and account for 0.09-0,4% of all laryngeal tumours. Cutaneous melanomas are the preponderant primaries metastasizing to the larynx, fol-lowed by renal cell carcinomas, breast and lung carcinomas. Colonic adenocarcinoma metastases to the larynx are extrem......Secondary neoplasms of the larynx are rare and account for 0.09-0,4% of all laryngeal tumours. Cutaneous melanomas are the preponderant primaries metastasizing to the larynx, fol-lowed by renal cell carcinomas, breast and lung carcinomas. Colonic adenocarcinoma metastases to the larynx...

  1. Treatment of pancreatic cystic neoplasm: surgery or conservative?

    Science.gov (United States)

    Talukdar, Rupjyoti; Nageshwar Reddy, D

    2014-01-01

    Pancreatic cystic neoplasms (PCNs) are a heterogeneous group of tumors with distinct biological features. These neoplasms are now being recognized more frequently owing to advances in cross-sectional imaging and increasing awareness. Guidelines for treatment of the common and clinically important PCNs frequently have been revised in view of the continuing controversies and evolving clinical data. This review summarizes the management approaches of the common and clinically important PCNs based on current evidence and guidelines. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

  2. Unicentric Castleman’s Disease Masquerading Pancreatic Neoplasm

    Directory of Open Access Journals (Sweden)

    Saurabh Jain

    2012-01-01

    Full Text Available Castleman’s disease is a rare nonclonal proliferative disorder of the lymph nodes with an unknown etiology. Common locations of Castleman’s disease are mediastinum, neck, axilla, and abdomen. Castleman’s disease of a peripancreatic location masquerading as pancreatic neoplasm is an even rarer entity. On search of published data, we came across about 17 cases published on peripancreatic Castleman’s disease until now. Here we are reporting a case of retropancreatic Castleman's disease masquerading as retroperitoneal neoplasm in a 46-year-old male patient.

  3. Computed tomography of cystic neoplasms of the pancreas

    Energy Technology Data Exchange (ETDEWEB)

    Ohtomo, Kuni; Itai, Yuji; Araki, Tsutomu; Iio, Masahiro (Tokyo Univ. (Japan). Faculty of Medicine)

    1983-01-01

    CT manifestations of 6 pancreatic cystic neoplasms (3 mucinous cystadenoma, 2 mucinous cystadenocarcinoma, 1 serous cystadenoma) were discussed in comparison with their macroscopic features and CT appearance of 38 pancreatic pseudocysts. CT demonstrated internal structures within cystic component in 5 of 6 neoplasms and none of pseudocysts. Three mucinous cystadenomas and 1 cystadenocarcinoma had linear septa and 1 serous cystadenoma showed fine reticular internal structures. Unless distant and/or lymph node metastasis were demonstrated, CT differentiation between mucinous cystadenoma and cystadenocarcinoma was difficult except for a case with swelling of the adjacent pancreas due to tumor invasion.

  4. A cost minimization approach to the diagnosis of skeletal neoplasms.

    Science.gov (United States)

    Ruhs, S A; el-Khoury, G Y; Chrischilles, E A

    1996-07-01

    Percutaneous needle aspiration (PNA) has been widely used to diagnose bone malignancies. Successful aspirates hinge on the ability of the operator to obtain an adequate or diagnostic sample, and a skilled cytologist to make a diagnosis on needle aspirates. False-negative aspirates could pose a serious problem. This study is designed to evaluate the cost-effectiveness of PNA in the diagnosis of skeletal neoplasms using a cost minimization approach. All PNA performed over a 44-month period were reviewed retrospectively. Ninety-four skeletal biopsies were performed to diagnose a clinically or roentgenographically suspicious lesion: 69 for a suspected metastatic malignancy, and 25 for a suspected primary malignancy. The PNA results were collected and reviewed, sensitivities and specificities were determined (compared with open biopsy results or clinical follow-up as the gold standards), and the probabilities were applied to a decision tree. Charges were obtained from the patient's billing and converted into costs by a cost-charge ratio. Sensitivity analysis was performed to determine the costs of each branch of the decision tree, and ultimately the final cost of the two strategies: (1) PNA for all suspected neoplasms followed by open biopsy for negative and non-diagnostic PNA results, or (2) open biopsy for all suspected neoplasms. In diagnosing a suspected metastatic skeletal neoplasm, PNA had a sensitivity of 88%, a specificity of 100%, and a non-diagnostic result in 3% of cases. Cost analysis determined a savings of $ US 2486 per patient when "PNA strategy" was used instead of "open biopsy strategy". In diagnosing a suspected primary neoplasm, PNA hat a sensitivity 75%, a specificity of 100%, and a non-diagnostic result in 16% of cases. Cost analysis determined a savings of $ US 954 per patient when "PNA strategy" was used instead of "open biopsy strategy". By using "PNA strategy" instead of "open biopsy strategy" at this institution we would have saved $ US 195384

  5. Acute myeloid leukemia: update in diagnosis and treatment in Brazil

    Directory of Open Access Journals (Sweden)

    Ricardo Helman

    2011-06-01

    Full Text Available Objective: To identify how the Brazilian hematology centerstreated and diagnosed cases of acute myeloid leukemia in 2009.Methods: An epidemiological observational multicenter study of11 listed Brazilian centers that treat acute myeloid leukemia andperform bone marrow transplantation. Data were collected fromclinical charts of patients with acute myeloid leukemia treatedat the said centers between 2005 and 2009. The availability forimmunophenotyping and cytogenetic tests was assessed. Results:During 2009, a total of 345 new cases of acute myeloid leukemiawere diagnosed. Differences were noted in the tests performedbetween patients who initiated treatment at the center and thosereferred for treatment. Of the participating centers, 72% conductedsome type of molecular study in acute myeloid leukemia upondiagnosis. Conclusion: Treatment for acute myeloid leukemia inBrazil shows significantly inferior results when compared to othercenters worldwide.

  6. Myeloid Sarcoma Presenting as Nasal and Orbital Mass: An Initial Manifestation of an Acute Myeloid Leukaemia.

    Science.gov (United States)

    Gupta, Amita Jain; Mandal, Shramana; Gupta, Richa; Khurana, Nita; Gulati, Achal

    2017-07-01

    Myeloid sarcoma is an extramedullary manifestation of Acute Myeloid Leukaemia and sometimes is the only indicator of the disease. The incidence varies between 3-9.1% of acute leukaemia cases. The blast infiltration is seen most commonly in skin, lymph node, gastrointestinal tract, bone, soft tissue though can involve any body site usually as a solitary lesion and is rarely seen in nasal cavity. We present two cases of myeloid sarcoma presenting as a nasal mass in a six year old girl and other as orbital mass in 32-year-old as an initial manifestation of acute myeloid leukaemia. Histopathological examination along with immunohistochemistry clinched the diagnosis of myeloid sarcoma. Examination of bone marrow aspirate revealed blasts which fulfilled the criteria for acute leukaemia. These cases are usually misdiagnosed because often lymphoma and granulocytic sarcoma is not considered in initial list of differential diagnoses. These rare cases are being presented here as early recognition and diagnosis will ensure rapid treatment of the condition and improve the survival.

  7. Myeloid-derived suppressor cells and myeloid regulatory cells in cancer and autoimmune disorders.

    Science.gov (United States)

    Barnie, Prince Amoah; Zhang, Pan; Lv, Hongxiang; Wang, Dan; Su, Xiaolian; Su, Zhaoliang; Xu, Huaxi

    2017-02-01

    Myeloid-derived suppressor cells (MDSCs) were originally described as a heterogeneous population of immature cells derived from myeloid progenitors with immune-suppressive functions in tumor-bearing hosts. In recent years, increasing number of studies have described various populations of myeloid cells with MDSC-like properties in murine models of cancer and autoimmune diseases. These studies have observed that the populations of MDSCs are increased during inflammation and autoimmune conditions. In addition, MDSCs can effectively suppress T cell responses and modulate the activity of natural killer cells and other myeloid cells. MDSCs have also been implicated in the induction of regulatory T cell production. Furthermore, these cells have the potential to suppress the autoimmune response, thereby limiting tissue injury. Myeloid regulatory cells (Mregs) are recently attracting increasing attention, since they function in proinflammatory and immune suppression in autoimmune diseases, as well as in various types of cancer. Currently, research focus is directed from MDSCs to Mregs in cancer and autoimmune diseases. The present study reviewed the suppressive roles of MDSCs in various autoimmune murine models, the immune modulation of MDSCs to T helper 17 lymphocytes, as well as the proinflammatory and immunosuppressive roles of Mregs in various types of cancer and autoimmune diseases.

  8. Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

    Directory of Open Access Journals (Sweden)

    F. Malvestiti

    2014-01-01

    Full Text Available Chronic myeloid leukemia (CML is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation of the Philadelphia (Ph chromosome. In 2–10% of CML cases, the fusion gene arises in connection with a variant translocation, involving chromosomes 9, 22, and one or more different chromosomes; consequently, the Ph chromosome could be masked within a complex chromosome rearrangement. In cases with variant Ph translocation a deletion on der(9 may be more frequently observed than in cases with the classical one. Herein we describe a novel case of CML with complex variant Ph translocation involving chromosomes 9, 12, and 22. We present the hematologic response and cytogenetic response after Imatinib treatment. We also speculated the mechanism which had originated the chromosome rearrangement.

  9. Chlorhexidine Gluconate Cleansing in Preventing Central Line Associated Bloodstream Infection and Acquisition of Multi-drug Resistant Organisms in Younger Patients With Cancer or Undergoing Donor Stem Cell Transplant

    Science.gov (United States)

    2017-04-24

    Bacterial Infection; Benign Neoplasm; Malignant Neoplasm; Methicillin-Resistant Staphylococcus Aureus Infection; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Untreated Childhood Myeloid Neoplasm

  10. CD4-Negative Variant of Cutaneous Blastic Plasmacytoid Dendritic Cell Neoplasm With a Novel PBRM1 Mutation in an 11-Year-Old Girl.

    Science.gov (United States)

    Yigit, Nuri; Suarez, Luisa Fernanda; Roth, Lisa Giulino; Orazi, Attilio; Tam, Wayne

    2017-05-01

    We report a rare case of CD4- cutaneous blastic plasmacytoid dendritic cell neoplasm (BPDCN) with a novel PBRM1 mutation. An 11-year-old girl presented with an enlarged mass on her left arm and underwent an incisional biopsy. Histopathologic examination and immunohistochemistry studies showed a monotonous proliferation of blasts that were CD4-, CD56+, and CD123+. There was no evidence of leukemic dissemination. Next-generation sequencing detected PBRM1 and CIC gene abnormalities. We confirmed and validated a novel PBRM1 mutation by conventional polymerase chain reaction and Sanger sequencing. CD4- variant of BPDCN may be mistaken for myeloid sarcoma or extramedullary lymphoblastic leukemia/lymphoma because of their overlapping morphologic and immunophenotypic features; thus, a careful clinicopathologic evaluation is essential to reach the correct diagnosis. PBRM1 mutation seems to be a driver event in this case. Our study underscores the importance of alterations in chromatin remodeling in the pathogenesis of BPDCN.

  11. Epigenetic aberrations in myeloid malignancies (Review).

    Science.gov (United States)

    Takahashi, Shinichiro

    2013-09-01

    The development of novel technologies, such as massively parallel DNA sequencing, has led to the identification of several novel recurrent gene mutations, such as DNA methyltransferase (Dnmt)3a, ten-eleven-translocation oncogene family member 2 (TET2), isocitrate dehydrogenase (IDH)1/2, additional sex comb-like 1 (ASXL1), enhancer of zeste homolog 2 (EZH2) and ubiquitously transcribed tetratricopeptide repeat X chromosome (UTX) mutations in acute myeloid leukemia (AML) and other myeloid malignancies. These findings strongly suggest a link between recurrent genetic alterations and aberrant epigenetic regulations, resulting from an abnormal DNA methylation and histone modification status. This review focuses on the current findings of aberrant epigenetic signatures by these newly described genetic alterations. Moreover, epigenetic aberrations resulting from transcription factor aberrations, such as mixed lineage leukemia (MLL) rearrangement, ecotropic viral integration site 1 (Evi1) overexpression, chromosomal translocations and the downregulation of PU.1 are also described.

  12. The expression of lysyl-oxidase gene family members in myeloproliferative neoplasms.

    Science.gov (United States)

    Tadmor, T; Bejar, J; Attias, D; Mischenko, E; Sabo, E; Neufeld, G; Vadasz, Z

    2013-05-01

    Myeloproliferative neoplasms (MPNs) are malignant disorders originating from clonal expansion of a single neoplastic stem cell and characteristically show an increase in bone marrow reticulin fibers. Lysyl oxidases (LOXs) are copper-dependent amine oxidases that play a critical role in the biogenesis of connective tissue by crosslinking extracellular matrix proteins, collagen and elastin. Expression of LOX gene family members is increased in disorders associated with increased fibrosis. To evaluate involvement of LOX gene family in various MPNs. In-situ hybridization was used to detect Lysyl-Oxidase family members in bone marrow biopsies from patients with different MPNs. We compared normal bone marrows and those from patients with polycythemia vera, essential thrombocythemia, chronic myeloid leukemia, and primary myelofibrosis (PMF). Serum levels of lysyl-oxidase from patients with PMF and healthy controls were also examined. LOX gene family was not detected in normal bone marrows. All members of the LOX gene family were over expressed in PMF. In other MPNs a differential pattern of expression was observed. Differences in gene expression were statistically significant (P < 0.010). The medianserum LOX levels in normal controls was 28.4 ± 2.5 ng\\ml and 44.6 ± 9.44 ng\\ml in PMF (P = 0.02). The varying pattern of expression of LOX genes may reflect differences in the pathophysiology of bone marrow fibrosis in these MPNs. These observations could be used as the basis for future targeted therapy directed against bone marrow fibrosis. Copyright © 2013 Wiley Periodicals, Inc.

  13. Clinical Manifestations and Risk Factors for Complications of Philadelphia Chromosome-Negative Myeloproliferative Neoplasms.

    Science.gov (United States)

    Duangnapasatit, Boonlerd; Rattarittamrong, Ekarat; Rattanathammethee, Thanawat; Hantrakool, Sasinee; Chai-Adisaksopha, Chatree; Tantiworawit, Adisak; Norasetthada, Lalita

    2015-01-01

    Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by proliferation of one or more myeloid lineages. Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical Philadelphia chromosome (Ph)-negative MPN that have a Janus Kinase 2 (JAK2) mutation, especially JAK2V617F in the majority of patients. The major complications of Ph-negative MPNs are thrombosis, hemorrhage, and leukemic transformation. To study clinical manifestations including symptoms, signs, laboratory findings, and JAK2V617F mutations of Ph-negative MPN (PV, ET and PMF) as well as their complications. All Ph-negative MPN (PV, ET and PMF) patients who attended the Hematology Clinic at Maharaj Nakorn Chiang Mai Hospital from January, 1 2003 through December, 31 2013 were retrospectively reviewed for demographic data, clinical characteristics, complete blood count, JAK2V617F mutation analysis, treatment, and complications. One hundred and fifty seven patients were included in the study. They were classified as PV, ET and PMF for 68, 83 and 6 with median ages of 60, 61, and 68 years, respectively. JAK2V617F mutations were detected in 88%, 69%, and 100% of PV, ET and PMF patients. PV had the highest incidence of thrombosis (PV 29%, ET 14%, and PMF 0%) that occurred in both arterial and venous sites whereas PMF had the highest incidence of bleeding (PMF 17%, ET 11%, and PV 7%). During follow up, there was one ET patient that transformed to acute leukemia and five cases that developed thrombosis (three ET and two PV patients). No secondary myelofibrosis and death cases were encountered. Ph-negative MPNs have various clinical manifestations. JAK2V617F mutations are present in the majority of PV, ET, and PMF patients. This study confirmed that thrombosis and bleeding are the most significant complications in patients with Ph-negative MPN.

  14. Second Malignant Neoplasms in Childhood Cancer Survivors Treated in a Tertiary Paediatric Oncology Centre.

    Science.gov (United States)

    Lim, Jia Wei; Yeap, Frances Sh; Chan, Yiong Huak; Yeoh, Allen Ej; Quah, Thuan Chong; Tan, Poh Lin

    2017-01-01

    Introduction: One of the most feared complications of childhood cancer treatment is second malignant neoplasms (SMNs). This study evaluates the incidence, risk factors and outcomes of SMNs in a tertiary paediatric oncology centre in Singapore. Materials and Methods: A retrospective review was conducted on patients diagnosed with childhood cancer under age 21 and treated at the National University Hospital, Singapore, from January 1990 to 15 April 2012. Case records of patients with SMNs were reviewed. Results: We identified 1124 cases of childhood cancers with a median follow-up of 3.49 (0 to 24.06) years. The most common primary malignancies were leukaemia (47.1%), central nervous system tumours (11.7%) and lymphoma (9.8%). Fifteen cases developed SMNs, most commonly acute myeloid leukaemia/myelodysplastic syndrome (n = 7). Median interval between the first and second malignancy was 3.41 (0.24 to 18.30) years. Overall 20-year cumulative incidence of SMNs was 5.3% (95% CI, 0.2% to 10.4%). The 15-year cumulative incidence of SMNs following acute lymphoblastic leukaemia was 4.4% (95% CI, 0% to 8.9%), significantly lower than the risk after osteosarcoma of 14.2% (95% CI, 0.7% to 27.7%) within 5 years (P <0.0005). Overall 5-year survival for SMNs was lower than that of primary malignancies. Conclusion: This study identified factors explaining the epidemiology of SMNs described, and found topoisomerase II inhibitor use to be a likely risk factor in our cohort. Modifications have already been made to our existing therapeutic protocols in osteosarcoma treatment. We also recognised the importance of other risk management strategies, including regular long-term surveillance and early intervention for detected SMNs, to improve outcomes of high risk patients.

  15. [An immunological approach to acute myeloid leukaemia].

    Science.gov (United States)

    González, B; Bueno, D; Rubio, P M; San Román, S; Plaza, D; Sastre, A; García-Miguel, P; Fernández, L; Valentín, J; Martínez, I; Pérez-Martínez, A

    2016-04-01

    Acute myeloid leukaemia (AML) is the second haematological malignancy in the paediatric population, and one of the leading causes of childhood cancer mortality. Survival is currently around 60%, with no improvement in last decades, suggesting that new therapeutic approaches are needed. The anti-leukaemia effect mediated by the lymphocytes and natural killer (NK) cells of the immune system has been established in haematopoietic stem cell transplantation, and also as adoptive immunotherapy after consolidation chemotherapy schemes. A retrospective study was conducted on the clinical characteristics of patients diagnosed and treated for AML in our centre during 1996-2014. The mean fluorescence intensities of HLA-I, MICA/B and ULBP1-4, ligands for NK cell receptors, were also analysed in ten new diagnosed leukaemia cases, five myeloid and five lymphoid. A total of 67 patients were used in this analysis. With a median follow up of 25 months, the event-free survival was 62% (95% CI: 55-67). Secondary AML, non-M3 phenotype, and the absence of favourable cytogenetic markers had a lower survival. The probability of relapse was 38% (95% CI: 31-45). The expression of HLA-I and ULBP-4 was significantly lower in myeloid than in lymphoid blast cells. Our clinical results are similar to those described in the literature. Survival did not significantly change in recent decades, and the likelihood of relapse remains high. Myeloid blasts might be more susceptible to the cytotoxicity of NK cells through their lower expression of HLA-I. NK therapy strategies in minimal disease situation could be effective, as reported by other groups. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  16. Bortezomib in Treating Patients With High-Risk Acute Myeloid Leukemia in Remission

    Science.gov (United States)

    2017-02-17

    Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome; Adult Acute Minimally Differentiated Myeloid Leukemia (M0); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Promyelocytic Leukemia (M3); Adult Erythroleukemia (M6a); Adult Pure Erythroid Leukemia (M6b); Secondary Acute Myeloid Leukemia

  17. Gemtuzumab Ozogamicin in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia or Acute Promyelocytic Leukemia

    Science.gov (United States)

    2017-05-25

    Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Promyelocytic Leukemia (M3); Childhood Acute Promyelocytic Leukemia (M3); Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Myeloid Leukemia

  18. Decitabine in Treating Children With Relapsed or Refractory Acute Myeloid Leukemia or Acute Lymphoblastic Leukemia

    Science.gov (United States)

    2013-01-22

    Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Promyelocytic Leukemia (M3); Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia

  19. [Myeloid/natural killer cell precursor and myeloid/natural killer cell acute leukemia].

    Science.gov (United States)

    Ni, Ming; Chen, Bao-An

    2014-04-01

    With the popularity of flow cytometry, the classification of leukemia become more detailed. Myeloid/natural killer cell precursor acute leukemia and myeloid/natural killer cell acute leukemias are generally recognized as two kinds of rare leukemias and have poor prognosis. The cells expressed both myeloid and lymphatic antigens in these two leukemia and can not be diagnosed by morphology. The only basis to make a definite diagnosis is their unique Immunophenotyping. The role of CD7 and CD56 in these two leukemia are compelling, in the other hand, as the progress of cell differentiation research, there are many new awareness of NK cell differentiation. In this article, the biological origin, clinical manifestation, diagnosis, treatment and the role of CD7 and CD56 in these two leukemia are briefly summarized.

  20. The Continuing Value of Ultrastructural Observation in Central Nervous System Neoplasms in Children

    Directory of Open Access Journals (Sweden)

    Na Rae Kim

    2015-11-01

    Full Text Available Central nervous system (CNS neoplasms are the second most common childhood malignancy after leukemia and the most common solid organ neoplasm in children. Diagnostic dilemmas with small specimens from CNS neoplasms are often the result of multifactorial etiologies such as frozen or fixation artifact, biopsy size, or lack of knowledge about rare or unfamiliar entities. Since the late 1950s, ultrastructural examination has been used in the diagnosis of CNS neoplasms, though it has largely been replaced by immunohistochemical and molecular cytogenetic studies. Nowadays, pathologic diagnosis of CNS neoplasms is achieved through intraoperative cytology, light microscopy, immunohistochemistry, and molecular cytogenetic results. However, the utility of electron microscopy (EM in the final diagnosis of CNS neoplasms and investigation of its pathogenetic origin remains critical. Here, we reviewed the distinguishing ultrastructural features of pediatric CNS neoplasms and emphasize the continuing value of EM in the diagnosis of CNS neoplasms.

  1. Intraductal papillary mucinous neoplasm of the pancreas: cytologic features predict histologic grade

    National Research Council Canada - National Science Library

    Michaels, Paul J; Brachtel, Elena F; Bounds, Brenna C; Brugge, William R; Pitman, Martha Bishop

    2006-01-01

    Intraductal papillary mucinous neoplasm (IPMN) is an increasingly recognized cystic neoplasm of the pancreas, histologically classified by the degree of epithelial atypia and by the presence or absence of invasion of the cyst wall...

  2. Intraductal Oncocytic Papillary Neoplasm of the Pancreas: Report of a Case Requiring Completion Pancreatectomy

    OpenAIRE

    Wohlauer, Max V.; Csaba Gajdos; Martine McManus; Norio Fukami

    2013-01-01

    Context Cystic tumors of the pancreas have been diagnosed with increasing frequency. Intraductal oncocytic papillary neoplasm is a rare type of cystic pancreatic tumor. Intraductal oncocytic papillary neoplasm is considered a distinct entity with the potential of developing into invasive carcinoma and it should be differentiated from other cystic tumors of the pancreas, including mucinous cystic neoplasm and other forms of intraductal papillary mucinous neoplasm (IPMN). Histologically, the fo...

  3. Childhood neoplasms presenting at autopsy: A 20-year experience.

    Science.gov (United States)

    Bryant, Victoria A; Booth, John; Palm, Liina; Ashworth, Michael; Jacques, Thomas S; Sebire, Neil J

    2017-09-01

    The aims of the review are to establish the number of undiagnosed neoplasms presenting at autopsy in a single centre and to determine the incidence and most common causes of sudden unexpected death due to neoplasia in infancy and childhood (SUDNIC). Retrospective observational study of paediatric autopsies performed on behalf of Her Majesty's Coroner over a 20-year period (1996-2015; n = 2,432). Neoplasms first diagnosed at autopsy were identified from an established database and cases meeting the criteria for sudden unexpected death were further categorised. Thirteen previously undiagnosed neoplasms were identified, including five haematological malignancies, two medulloblastomas, two neuroblastomas, two cardiac tumours and two malignancies of renal origin. Eight cases met the criteria for SUDNIC (0.33% of autopsies), the commonest group of which were haematological malignancies (n = 3). Neoplasms presenting as unexpected death in infancy and childhood and diagnosed at autopsy are rare. The findings suggest that haematological malignancies are the commonest cause of SUDNIC and highlight the importance of specialist autopsy in cases of sudden unexpected death. © 2017 Wiley Periodicals, Inc.

  4. The origin of epithelial neoplasms after allogeneic stem cell transplantation.

    NARCIS (Netherlands)

    Smith, M.J.; Cleef, P.H. van; Schattenberg, A.V.M.B.; Krieken, J.H.J.M. van

    2006-01-01

    We analyzed five women, who have developed epithelial neoplasms after sex-mismatched stem cell transplants. Using in situ hybridization for sex chromosome-specific DNA probes and immunohistochemistry we identified the origin of the tumor cells. We conclude that none of the non-hematologic

  5. [Epidermoid neoplasm of the fourth ventricle. Report of two cases].

    Science.gov (United States)

    Santos-Franco, Jorge Arturo; Vallejo-Moncada, Cristóbal; Collado-Arce, Griselda; Villalpando-Navarrete, Edgar; Sandoval-Balanzario, M

    2013-01-01

    epidermoid neoplasm (EN) accounts for 1 % of whole intracranial neoplasms. Usually, it is found at the cerebello-pontine angle and the location in the fourth ventricle (FV) is rare. The aim was to report two cases of EN of the FV. case 1: a female 22 year old presented with an intense headache with a history of 3 months. At the hospital entry, symptoms and signs of high intracranial pressure were found. Tomography images showed hydrocephalus with high pressure in the FV. She was treated with a shunt from ventricular to peritoneal cavity. After that an encapsulated neoplasm was drawn. It had a pearled aspect. The histology report showed an EN originating in the FV. Case 2: a female 44 year old with a history of five years of dizziness; three years before admission she presented intermittent diplopia and disophagia. At the hospital admission the patient presented paresis of the 6th and 7th cranial nerve. The tomography and the magnetic resonance studies showed a mass in the FV. The neoplasm was extirpated. the EN of the FV is an infrequent benign lesion. Magnetic resonance is the standard diagnostic study, but it could lead to confusion with neurocisticercosis. The extirpation and the treatment of the hydrocephalus are indicated.

  6. Pattern and Risk Factors of Urinary Bladder Neoplasms in ...

    African Journals Online (AJOL)

    Background: Urinary bladder neoplasm (UBN) is associated with high morbidity and mortality rate. It poses biologic and clinical challenges. Objectives: To evaluate the pattern as regards frequency, age, sex, occupation, local geographical distribution, clinical presentations and risk factors of UBN in. Sudanese patients in ...

  7. Histologic and Immunohistochemical classification of 41 bovine adrenal gland neoplasms

    DEFF Research Database (Denmark)

    Grossi, Anette Blak; Leifsson, Páll S.; Jensen, Henrik Elvang

    2013-01-01

    Tumors of the adrenal glands are among the most frequent tumors in cattle; however, few studies have been conducted to describe their characteristics. The aim of this study was to classify 41 bovine adrenal neoplasms from 40 animals based on macroscopic and histologic examination, including...

  8. Lifestyle Behaviors as Predictors of Malignant Neoplasm Development.

    Science.gov (United States)

    Baum, L. S.; And Others

    The relationship between lifestyle behaviors and the onset of neoplasm development has been researched extensively. This study took a multivariate approach in attempting to identify lifestyle variables which could predict group membership among subjects diagnosed as having cancer and those subjects who have not been diagnosed as having cancer.…

  9. A retrospective study of ocular neoplasms in Benin City, Nigeria ...

    African Journals Online (AJOL)

    Ocular neoplasm is one of the least investigated ocular disorders in Nigeria. Although relatively rare, they play a role in causing blindness and even death in adults and children. In this study, the records of all patients/seen at the eye clinic and specimen received at the histopathology department of the University of Benin, ...

  10. Cystic lesion of pancreas - Intraductal papillary mucinous neoplasm

    Directory of Open Access Journals (Sweden)

    Rajiv Baijal

    2013-01-01

    Full Text Available Intraductal papillary mucinous neoplasm (IPMN of the pancreas is an intraductal mucin-producing epithelial neoplasm that arises from the main and/or branched pancreatic duct. It usually presents as cystic lesion of pancreas. There are well known differential diagnosis of cystic pancreatic lesion. Pancreatic cystic neoplasms are detected at an increasing frequency due to an increased use of abdominal imaging. The diagnosis and treatment of intraductal papillary mucinous tumors (IPMN of the pancreas has evolved over the past decade. IPMN represents a spectrum of disease, ranging from benign to malignant lesions, making the early detection and characterization of these lesions important. Definitive management is surgical resection for appropriate candidates, as benign lesions harbor malignant potential. IPMN has a prognosis, which is different from adenocarcinoma of the pancreas. We report a case of a 58-year-old male with intraductal papillary neoplasm involving main duct and side branches presenting to us with clinical symptoms of chronic pancreatitis with obstructive jaundice and cholangitis treated surgically.

  11. Gestational trophoblastic neoplasm and women living with HIV and ...

    African Journals Online (AJOL)

    2015-07-03

    Jul 3, 2015 ... License. Gestational trophoblastic neoplasm and women living with HIV and/or AIDS. Read online: Scan this QR code with your smart phone or mobile device to read online. Introduction. Infection with the human immune deficiency virus (HIV) in sub-Saharan Africa affected an estimated 22.5 million people, ...

  12. GATA3 and MYB Expression in Cutaneous Adnexal Neoplasms.

    Science.gov (United States)

    Pardal, Joana; Sundram, Uma; Selim, M Angelica; Hoang, Mai P

    2017-04-01

    Knowledge of staining pattern of certain immunostains might be useful in the classification of cutaneous adnexal tumors that can have clinical importance. We studied GATA3 and MYB expression in archival materials of 220 adnexal tumors comprised of sebaceous carcinomas, follicular tumors, apocrine carcinoma, predominantly apocrine tumors, predominantly eccrine tumors, and others including adenoid cystic carcinomas. Nuclear GATA3 expression was seen in 70% (153/220) of cases, including sebaceous carcinoma (93%), apocrine carcinoma (93%), follicular neoplasms (100%), and predominantly apocrine neoplasms (69%), yet only 38% of predominantly eccrine neoplasms. Nuclear MYB expression was seen in 43% (81/188) of cases, including adenoid cystic carcinoma (90%), predominantly apocrine tumors (66%), follicular neoplasms (49%), apocrine carcinomas (14%), predominantly eccrine tumors (11%), and sebaceous carcinomas (4%). GATA3 and MYB expression were noted in 43% (9/21) and 24% (5/21) of cutaneous metastases, respectively. Expression of both GATA3 and MYB was noted in 33% (60/184) of primary adnexal tumors versus 19% (4/21) of cutaneous metastases. GATA3 preferentially labels tumors with follicular, sebaceous, and apocrine differentiation. MYB is potentially a helpful stain in the distinction of desmoplastic trichoepithelioma versus basal cell carcinoma. The coexpression of GATA3 and MYB might be helpful in the distinction of primary cutaneous adnexal carcinoma versus metastatic breast, salivary gland, or urothelial carcinoma.

  13. INTRACRANIAL NEOPLASMS IN IBADAN, NIGERIA B.J. OLASODE ...

    African Journals Online (AJOL)

    hi-tech

    2000-01-01

    Jan 1, 2000 ... One hundred and thirty five neoplasms occurred in adults and 75 in children. There was no gender difference, the ratio being 1:1. Gliomas accounted for the largest group of tumours followed by metastases to the brain. Of the gliomas, astrocytoma was the commonest. Craniopharyngiomas were found to be.

  14. Gestational Trophoblastic Neoplasm and Women Living With HIV ...

    African Journals Online (AJOL)

    Gestational trophoblastic neoplasm (GTN) is a rare pregnancy-related disorder with an incidence ranging from 0.12–0.7/1000 pregnancies in Western nations. The overall cure rate is about 90%. Response to treatment for GTN is generally favourable; but the sequelae of HIV and/or AIDS, the resultant low CD4 counts, ...

  15. Solid pseudopapillary epithelial neoplasm – a rare but curable ...

    African Journals Online (AJOL)

    Background. Solid pseudopapillary epithelial neoplasms (SPENs) of the pancreas are rare but curable tumours that have a low-grade malignant potential and occur almost exclusively in young women, with an excellent prognosis after complete resection. This study examines the clinicopathological characteristics of these ...

  16. Age-specific incidence of all neoplasms after colorectal cancer.

    Science.gov (United States)

    Levi, Fabio; Randimbison, Lalao; Blanc-Moya, Rafael; La Vecchia, Carlo

    2014-10-01

    Patients diagnosed with a specific neoplasm tend to have a subsequent excess risk of the same neoplasm. The age incidence of a second neoplasm at the same site is approximately constant with age, and consequently the relative risk is greater at younger age. It is unclear whether such a line of reasoning can be extended from a specific neoplasm to the incidence of all neoplasms in subjects diagnosed with a defined neoplasm. We considered the age-specific incidence of all non-hormone-related epithelial neoplasms after a first primary colorectal cancer (n = 9542) in the Vaud Cancer Registry data set. In subjects with a previous colorectal cancer, the incidence rate of all other epithelial non-hormone-related cancers was stable around 800 per 100,000 between age 30 and 60 years, and rose only about twofold to reach 1685 at age 70 to 79 years and 1826 per 100,000 at age 80 years or older. After excluding synchronous cancers, the rise was only about 1.5-fold, that is, from about 700 to 1000. In the general population, the incidence rate of all epithelial non-hormone-related cancers was 29 per 100,000 at age 30 to 39 years, and rose 30-fold to 883 per 100,000 at age 70 to 79 years. Excluding colorectal cancers, the rise of all non-hormone-related cancers was from 360 per 100,000 at age 40 to 49 years to 940 at age 70 to 79 years after colorectal cancer, and from 90 to 636 per 100,000 in the general population (i.e., 2.6- vs. 7.1-fold). The rise of incidence with age of all epithelial non-hormone-related second cancers after colorectal cancer is much smaller than in the general population. This can possibly be related to the occurrence of a single mutational event in a population of susceptible individuals, although alternative models are plausible within the complexity of the process of carcinogenesis. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. File list: DNS.Prs.50.AllAg.Prostatic_Neoplasms [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  18. File list: ALL.Prs.10.AllAg.Prostatic_Neoplasms [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  8. File list: DNS.Neu.10.AllAg.Nerve_Sheath_Neoplasms [Chip-atlas[Archive

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  9. File list: Oth.Neu.50.AllAg.Nerve_Sheath_Neoplasms [Chip-atlas[Archive

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  13. File list: His.Neu.20.AllAg.Nerve_Sheath_Neoplasms [Chip-atlas[Archive

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  18. File list: ALL.Neu.50.AllAg.Nerve_Sheath_Neoplasms [Chip-atlas[Archive

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  1. File list: Oth.Neu.05.AllAg.Nerve_Sheath_Neoplasms [Chip-atlas[Archive

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  9. File list: Unc.Neu.05.AllAg.Nerve_Sheath_Neoplasms [Chip-atlas[Archive

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  11. File list: InP.Prs.10.AllAg.Prostatic_Neoplasms [Chip-atlas[Archive

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  13. Intraoperative pulmonary neoplasm identification using near-infrared fluorescence imaging.

    Science.gov (United States)

    Kim, Hyun Koo; Quan, Yu Hua; Choi, Byeong Hyeon; Park, Ji-Ho; Han, Kook Nam; Choi, Yeonho; Kim, Beop-Min; Choi, Young Ho

    2016-05-01

    Near-infrared (NIR) fluorescence imaging provides surgeons with real-time visual information during surgery. The purpose of this pilot trial was to evaluate the safety and feasibility of the intraoperative detection of pulmonary neoplasms with NIR fluorescence imaging after low-dose indocyanine green (ICG) injection. Eleven consecutive patients who were scheduled to undergo resection of pulmonary neoplasms were enrolled in this study. ICG (1 mg/kg) was administered intravenously 1 day before surgery, and the retrieved surgical specimens were examined for fluorescence signalling by using NIR fluorescence imaging system on a back table in the operating room. We analysed the fluorescence intensity, pathology, size, depth from the pleural surface and metabolic activity of the pulmonary neoplasms. Fluorescence signalling was detected in all specimens except in one from a patient with primary lung cancer. Two false-positive cases that presented no residual tumour with obstructive pneumonitis, after concurrent chemoradiation therapy for primary lung cancer before the operation, were identified, and their fluorescence intensity was 8.6 ± 0.4. The mean fluorescence intensity of the eight pulmonary tumours was 3.4 ± 1.9, and these tumours did not differ in pathology, size, depth from the pleural surface or metabolic activity. NIR fluorescence imaging could safely identify pulmonary neoplasms after the systemic injection of ICG. In addition, low-dose ICG is sufficient for NIR fluorescence imaging of pulmonary neoplasms. However, because the passive accumulation of ICG could not be used to discriminate tumours with inflammation, tumour-targeted fluorescence should be developed to solve this problem in the future. © The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  14. Emotional and Behavioural Disorders in Children and Adolescents with Neoplasm

    Directory of Open Access Journals (Sweden)

    Mohammad SI Mullick

    2011-02-01

    Full Text Available Background: Chronic physical illness including neoplasm has significant adverse impact on quality of life of the effected children and adolescents and their caregivers. This aspect has yet not been explored in Bangladesh and there exists significant lack of awareness. Objectives: To delineate the frequency of emotional and behavioural disorders among children and adolescents with neoplasm and to find out the relationship of socio-demographic and relevant variables with psychiatric disorders of them. Methods: This was a cross sectional study conducted at Department of Psychiatry, Bangabandhu Sheikh Mujib Medical University, Dhaka. Sixty children and adolescent with neoplasm admitted in paediatric unit of same institution who were referred to psychiatric department for assessment. They were assessed for emotional and behavioural disorders by using validated Bangla translation of a standardized child psychiatric assessment tool, the Development and Well-Being Assessment. Results: Out of 60 cases, 53% had been suffering from any ICD-10 psychiatric disorders (87.5% emotional and 34.7% behavioural disorders.Seventy five percent of children with ALL, 18% with Hodgkin Lymphoma followed by 7% with Wilms’ tumour suffered from psychiatric disorders. Emotional and behavioural disorder was found more in ALL cases. Though emotional disorder was found higher among girls,the difference was not significant. Conversely, behavioural disorders were found among the boys which was highly significant (p<0.005. In terms of education, both emotional and behavioural disorders were significantly found in higher grade. Conclusion: The identification and management of the emotional and behavioural disorders that accompany chronic physical illness including neoplasm would optimize treatment outcome and quality of life. Key words: Emotional & behavioural disorders; children & adolescents; neoplasm.  DOI: 10.3329/bsmmuj.v3i2.7058BSMMU J 2010; 3(2: 86-90

  15. FISH analysis for TET2 deletion in a cohort of 362 Brazilian myeloid malignancies: correlation with karyotype abnormalities.

    Science.gov (United States)

    de Oliveira, Fábio Morato; Miguel, Carlos Eduardo; Lucena-Araujo, Antônio Roberto; de Lima, Ana Silvia Gouvêa; Falcão, Roberto Passetto; Rego, Eduardo Magalhães

    2013-03-01

    We investigated the prevalence of TET2 deletion by using a new FISH probe in a cohort of 362 Brazilian patients with myeloid neoplasms and their association with cytogenetic information (G-banding analysis). Normal karyotype was observed in 45.8 % of MDS (n = 44), 43.8 % of AML (n = 39) and 46.3 % of MPN (n = 82). Abnormalities of 4q24 (deletions, translocations or inversions) were associated with another chromosomal abnormality in four patients by G-banding analysis (2 MDS, 1 AML and 1 MPN). Interphase FISH analysis revealed deletion of TET2 in 21 patients (6 patients with abnormal karyotype and in 15 patients with normal karyotype). arrayCGH analysis revealed a cryptic deletion of the region 4q24 in all eight patients selected with myeloid malignancies (3 MDS, 1 AML and 4 MPN). Considering the significantly high cost of determining the mutational status of TET2 in patient samples by using conventional sequencing methods and sometimes the lack of regular use of SNP/aCGH array methodologies, FISH for the detection of TET2 abnormalities may become a potentially useful clinical tool. The search for alterations in TET2 gene may be important for the prediction of prognosis in normal/altered AML patients' karyotype or in the disease evolution of patients with MNP and MDS.

  16. The potassium channel Ether à go-go is a novel prognostic factor with functional relevance in acute myeloid leukemia.

    Science.gov (United States)

    Agarwal, Jasmin R; Griesinger, Frank; Stühmer, Walter; Pardo, Luis A

    2010-01-27

    The voltage-gated potassium channel hEag1 (KV10.1) has been related to cancer biology. The physiological expression of the human channel is restricted to the brain but it is frequently and abundantly expressed in many solid tumors, thereby making it a promising target for a specific diagnosis and therapy. Because chronic lymphatic leukemia has been described not to express hEag1, it has been assumed that the channel is not expressed in hematopoietic neoplasms in general. Here we show that this assumption is not correct, because the channel is up-regulated in myelodysplastic syndromes, chronic myeloid leukemia and almost half of the tested acute myeloid leukemias in a subtype-dependent fashion. Most interestingly, channel expression strongly correlated with increasing age, higher relapse rates and a significantly shorter overall survival. Multivariate Cox regression analysis revealed hEag1 expression levels in AML as an independent predictive factor for reduced disease-free and overall survival; such an association had not been reported before. As a functional correlate, specific hEag1 blockade inhibited the proliferation and migration of several AML cell lines and primary cultured AML cells in vitro. Our observations implicate hEag1 as novel target for diagnostic, prognostic and/or therapeutic approaches in AML.

  17. Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome.

    Science.gov (United States)

    Zhang, Su-Jiang; Rampal, Raajit; Manshouri, Taghi; Patel, Jay; Mensah, Nana; Kayserian, Andrew; Hricik, Todd; Heguy, Adriana; Hedvat, Cyrus; Gönen, Mithat; Kantarjian, Hagop; Levine, Ross L; Abdel-Wahab, Omar; Verstovsek, Srdan

    2012-05-10

    Leukemic transformation (LT) of myeloproliferative neoplasms (MPNs) is associated with a poor prognosis and resistance to therapy. Although previous candidate genetic studies have identified mutations in MPN patients who develop acute leukemia, the complement of genetic abnormalities in MPN patients who undergo LT is not known nor have specific molecular abnormalities been shown to have clinical relevance in this setting. We performed high-throughput resequencing of 22 genes in 53 patients with LT after MPN to characterize the frequency of known myeloid mutations in this entity. In addition to JAK2 and TET2 mutations, which occur commonly in LT after MPN, we identified recurrent mutations in the serine/arginine-rich splicing factor 2 (SRSF2) gene (18.9%) in acute myeloid leukemia (AML) transformed from MPNs. SRSF2 mutations are more common in AML derived from MPNs compared with LT after myelodysplasia (4.8%) or de novo AML (5.6%), respectively (P=.05). Importantly, SRSF2 mutations are associated with worsened overall survival in MPN patients who undergo LT in univariate (P=.03; HR, 2.77; 95% CI, 1.10-7.00) and multivariate analysis (PHR, 2.11; 95% CI, 1.01-4.42). These data suggest that SRSF2 mutations contribute to the pathogenesis of LT and may guide novel therapeutic approaches for MPN patients who undergo LT.

  18. A case of MUC5AC-positive intraductal neoplasm of the pancreas classified as an intraductal tubulopapillary neoplasm?

    Science.gov (United States)

    Muraki, Takashi; Uehara, Takeshi; Sano, Kenji; Oota, Hiroyoshi; Yoshizawa, Akihiko; Asaka, Shiho; Tateishi, Ayako; Otsuki, Toshiaki; Shingu, Kunihiko; Matoba, Hisanori; Kobayashi, Shota; Ichimata, Shojiro; Watanabe, Takayuki; Itou, Tetsuya; Tanaka, Eiji

    2015-12-01

    This report describes a unique case of intraductal tubulopapillary neoplasm (ITPN) of the pancreas in order to clarify its oncogenesis and more precisely classify pancreatic intraductal neoplasms. A 74-year-old man visited our institution for follow-up of acute pancreatitis. Imaging examinations revealed a hypovascular intraductal mass in the head of the pancreas with progressive dilation of the pancreatic duct, atrophy of the pancreatic parenchyma, and a non-mucinous appearance. A pancreatoduodenectomy was performed to identify this pancreatic intraductal neoplasm. Macroscopically, the tumor was a solid nodular mass with no visibly secreted mucin obstructing the dilated ducts. Histologically, it had a homogeneous appearance with nodules of back-to-back tubular glands and occasional papillary elements, and there were no apparent transitions to areas with less marked cytoarchitectural atypia. Although the intraductal neoplastic growth corresponded to an ITPN, immunohistochemical staining revealed partial positivity for MUC5AC, for which ITPNs are characteristically negative. Somatic mutations in KRAS, GNAS, BRAF, and PIK3CA were not detected. A loss of MUC5AC expression and mutations in KRAS and GNAS are key elements in the diagnosis of ITPN. Thus, it was difficult to distinguish the present case as a pancreatobiliary-type (PB-type) intraductal papillary mucinous neoplasm (IPMN) or a phenotypic variant of ITPN. As it is possible that some cases of PB-type IPMN and ITPN overlap, the precise classification of these rare lesions may require re-evaluation. Copyright © 2015 Elsevier GmbH. All rights reserved.

  19. Mucin-hypersecreting bile duct neoplasm characterized by clinicopathological resemblance to intraductal papillary mucinous neoplasm (IPMN of the pancreas

    Directory of Open Access Journals (Sweden)

    Harimoto Norifumi

    2007-08-01

    Full Text Available Abstract Background Although intraductal papillary mucinous neoplasm (IPMN of the pancreas is acceptable as a distinct disease entity, the concept of mucin-secreting biliary tumors has not been fully established. Case presentation We describe herein a case of mucin secreting biliary neoplasm. Imaging revealed a cystic lesion 2 cm in diameter at the left lateral segment of the liver. Duodenal endoscopy revealed mucin secretion through an enlarged papilla of Vater. On the cholangiogram, the cystic lesion communicated with bile duct, and large filling defects caused by mucin were observed in the dilated common bile duct. This lesion was diagnosed as a mucin-secreting bile duct tumor. Left and caudate lobectomy of the liver with extrahepatic bile duct resection and reconstruction was performed according to the possibility of the tumor's malignant behavior. Histological examination of the specimen revealed biliary cystic wall was covered by micropapillary neoplastic epithelium with mucin secretion lacking stromal invasion nor ovarian-like stroma. The patient has remained well with no evidence of recurrence for 38 months since her operation. Conclusion It is only recently that the term "intraductal papillary mucinous neoplasm (IPMN," which is accepted as a distinct disease entity of the pancreas, has begun to be used for mucin-secreting bile duct tumor. This case also seemed to be intraductal papillary neoplasm with prominent cystic dilatation of the bile duct.

  20. Novel multiplex bead-based assay for detection of IDH1 and IDH2 mutations in myeloid malignancies.

    Directory of Open Access Journals (Sweden)

    Velizar Shivarov

    Full Text Available Isocitrate dehydrogenase 1 and 2 (IDH mutations are frequently found in various cancer types such as gliomas, chondrosarcomas and myeloid malignancies. Their molecular detection has recently gained wide recognition in the diagnosis and prognosis of these neoplasms. For that purpose various molecular approaches have been used but a universally accepted method is still lacking. In this study we aimed to develop a novel bead-based liquid assay using Locked nucleic acids (LNA-modified oligonucleotide probes for multiplexed detection of the most frequent IDH1 (p.R132C, p.R132G, p.R132H, p.R132L, p.R132S and IDH2 (p.R140Q, p.R172K mutations. The method includes four steps: 1 PCR amplification of the targeted fragments with biotinylated primers; 2 Direct hybridization to barcoded microbeads with specific LNA-modified oligonucleotide probes; 3 Incubation with phycoerythrin coupled streptavidin; 4 Acquisition of fluorescent intensities of each set of beads on a flow platform (LuminexCorp., USA. We tested the performance of the assay on both artificial plasmid constructs and on clinical samples from 114 patients with known or suspected myeloid malignancies. The method appeared to be superior to direct sequencing having a much higher sensitivity of 2.5% mutant alleles. Applying this method to patients' samples we identified a total of 9 mutations (one IDH1 p.R132C, seven IDH2 p.R140Q and one IDH2 p.R172K. In conclusion, this method could be successfully implemented in the diagnostic work-up for various tumors known to harbor IDH1/2 mutations (e.g. myeloid malignancies, gliomas, etc.. International initiatives are needed to validate the different existing methods for detection of IDH1/2 mutations in clinical settings.

  1. Translational Studies in Elderly Patients with Acute Myeloid Leukemia

    NARCIS (Netherlands)

    B. van der Holt (Bronno)

    2007-01-01

    textabstractThe production of blood cells (hematopoiesis) takes place in the bone marrow. Acute myeloid leukemia (AML) is a clonal disease, which is characterized by an increase in the number of myeloid cells in the bone marrow and an arrest in their maturation. This frequently results in a severe

  2. Myeloid sarcoma in children – diagnostic and therapeutic difficulties

    Directory of Open Access Journals (Sweden)

    Magdalena Samborska

    2017-01-01

    Full Text Available Myeloid sarcoma (MS is a malignant extramedullary tumour, which consists of immature cells of myeloid origin. It may occur de novo , concurrently or precede the diagnosis of acute myeloid leukemia (AML, myelodysplastic syndrome (MDS or chronic myeloid leukemia (CML. MS can also be a manifestation of the relapse of the disease. The more frequent sites of involvement are the skin, orbit, bone, periosteum, lymph nodes, gastrointestinal tract, soft tissue, central nervous system and testis. Because of its different localization and symptoms, and the lack of diagnostics algorithm, myeloid sarcoma is a real diagnostic challenge, in particular in patients without initial bone marrow involvement. The correct diagnosis of MS is important for adequate therapy, which is often delayed because of a high misdiagnosis rate. In the paper, the role of immunohistochemistry, cytogenetic and molecular genetic analyses is emphasized as well as the breadth of unclear aspects of this disorder in children.

  3. Therapy-Related Late Adverse Events in Hodgkin’s Lymphoma

    Directory of Open Access Journals (Sweden)

    Manuel Gotti

    2013-01-01

    Full Text Available Hodgkin's lymphoma (HL is one of the most curable hematologic diseases with an overall response rate over 80%. However, despite this therapeutic efficacy, HL survivors show a higher morbidity and mortality than other people of the same age because of long-term therapy-related events. In the last decades, many efforts have been made to reduce these effects through the reduction of chemotherapy dose, the use of less toxic chemotherapeutic agents, and the introduction of new radiation techniques. In this paper, we will describe the main long-term effects related to chemotherapy and radiotherapy for HL, the efforts to reduce toxicity made in the last years, and the clinical aspects which have to be taken into consideration in the followup of these patients.

  4. Dynamics of myeloid cell populations during relapse-preventive immunotherapy in acute myeloid leukemia.

    Science.gov (United States)

    Rydström, Anna; Hallner, Alexander; Aurelius, Johan; Sander, Frida Ewald; Bernson, Elin; Kiffin, Roberta; Thoren, Fredrik Bergh; Hellstrand, Kristoffer; Martner, Anna

    2017-08-01

    Relapse of leukemia in the postchemotherapy phase contributes to the poor prognosis and survival in patients with acute myeloid leukemia (AML). In an international phase IV trial (ClinicalTrials.gov; NCT01347996), 84 patients with AML in first complete remission who had not undergone transplantation received immunotherapy with histamine dihydrochloride (HDC) and low-dose IL-2 with the aim of preventing relapse. The dynamics of myeloid cell counts and expression of activation markers was assessed before and after cycles of immunotherapy and correlated with clinical outcome in terms of relapse risk and survival. During cycles, a pronounced increase in blood eosinophil counts was observed along with a reduction in monocyte and neutrophil counts. A strong reduction of blood monocyte counts during the first HDC/IL-2 treatment cycle predicted leukemia-free survival. The HDC component of the immunotherapy exerts agonist activity at histamine type 2 receptors (H2Rs) that are expressed by myeloid cells. It was observed that the density of H2 R expression in blood monocytes increased during cycles of immunotherapy and that high monocyte H2R expression implied reduced relapse risk and improved overall survival. Several other activation markers, including HLA-DR, CD86, and CD40, were induced in monocytes and dendritic cells during immunotherapy but did not predict clinical outcome. In addition, expression of HLA-ABC increased in all myeloid populations during therapy. A low expression of HLA-ABC was associated with reduced relapse risk. These results suggest that aspects of myeloid cell biology may impact clinical benefit of relapse-preventive immunotherapy in AML. © Society for Leukocyte Biology.

  5. The Hepatocyte Growth Factor (HGF)/Met Axis: A Neglected Target in the Treatment of Chronic Myeloproliferative Neoplasms?

    Energy Technology Data Exchange (ETDEWEB)

    Boissinot, Marjorie [Translational Neuro-Oncology Group, Leeds Institute of Cancer and Pathology, University of Leeds, Level 5 Wellcome Trust Brenner Building, St James’s Hospital, Leeds LS9 7TF (United Kingdom); Vilaine, Mathias [Institute of Research on Cancer and Aging (IRCAN), CNRS-Inserm-UNS UMR 7284, U 1081, Centre A. Lacassagne, 33 Avenue Valombrose, Nice 06189 (France); Hermouet, Sylvie, E-mail: sylvie.hermouet@univ-nantes.fr [Centre Hospitalier Universitaire (CHU), Place Alexis Ricordeau, Nantes 44093 (France); Inserm UMR892, Centre de Recherche en Cancérologie Nantes-Angers, Institut de Recherche en Santé, Université de Nantes, 8 quai Moncousu, Nantes cedex 44007 (France)

    2014-08-12

    Met is the receptor of hepatocyte growth factor (HGF), a cytoprotective cytokine. Disturbing the equilibrium between Met and its ligand may lead to inappropriate cell survival, accumulation of genetic abnormalities and eventually, malignancy. Abnormal activation of the HGF/Met axis is established in solid tumours and in chronic haematological malignancies, including myeloma, acute myeloid leukaemia, chronic myelogenous leukaemia (CML), and myeloproliferative neoplasms (MPNs). The molecular mechanisms potentially responsible for the abnormal activation of HGF/Met pathways are described and discussed. Importantly, inCML and in MPNs, the production of HGF is independent of Bcr-Abl and JAK2V617F, the main molecular markers of these diseases. In vitro studies showed that blocking HGF/Met function with neutralizing antibodies or Met inhibitors significantly impairs the growth of JAK2V617F-mutated cells. With personalised medicine and curative treatment in view, blocking activation of HGF/Met could be a useful addition in the treatment of CML and MPNs for those patients with high HGF/MET expression not controlled by current treatments (Bcr-Abl inhibitors in CML; phlebotomy, hydroxurea, JAK inhibitors in MPNs)

  6. Allogeneic hematopoietic stem cell transplant in adult patients with myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes.

    Science.gov (United States)

    Sharma, Prashant; Shinde, Shivani S; Damlaj, Moussab; Hefazi Rorghabeh, Mehrdad; Hashmi, Shahrukh K; Litzow, Mark R; Hogan, William J; Gangat, Naseema; Elliott, Michelle A; Al-Kali, Aref; Tefferi, Ayalew; Patnaik, Mrinal M

    2017-04-01

    MDS/MPN (myelodysplastic syndrome/myeloproliferative neoplasm) overlap syndromes are myeloid malignancies for which allogeneic hematopoietic stem cell transplant (allo-HSCT) is potentially curative. We describe transplant outcomes of 43 patients - 35 with chronic myelomonocytic leukemia, CMML (of which 17 had blast transformation, BT) and eight with MDS/MPN-unclassifiable (MDS/MPN,U). At median follow-up of 21 months, overall survival (OS), cumulative incidence of relapse (CIR) and non-relapse mortality (NRM) were 55%, 29%, and 25% respectively in CMML without BT and 47%, 40%, and 34% respectively in CMML with BT. Higher HSCT-comorbidity index (HSCT-CI >3 versus ≤3; p = 0.015) and splenomegaly (p = 0.006) predicted worse OS in CMML without BT. In CMML with BT, engraftment failure (p = 0.006) and higher HSCT-CI (p = 0.03) were associated with inferior OS, while HSCT within 1-year of diagnosis was associated with improved OS (p = 0.045). In MDS/MPN,U, at median follow-up of 15 months, OS, CIR, and NRM were 62%, 30%, and 14%, respectively.

  7. Aberrant Gene Expression in Acute Myeloid Leukaemia

    DEFF Research Database (Denmark)

    Bagger, Frederik Otzen

    Acute Myeloid Leukaemia (AML) is an aggressive cancer of the bone marrow, affecting formation of blood cells during haematopoiesis. This thesis presents investigation of AML using mRNA gene expression profiles (GEP) of samples extracted from the bone marrow of healthy and diseased subjects. Here...... signatures and for reducing dimensionally of gene expression data. Next, we have used machine-learning methods to predict survival and to assess important predictors based on these results. General application of a number of these methods has been implemented into two public query-based gene...

  8. Aberrant Gene Expression in Acute Myeloid Leukaemia

    DEFF Research Database (Denmark)

    Bagger, Frederik Otzen

    Summary Acute Myeloid Leukaemia (AML) is an aggressive cancer of the bone marrow, affecting formation of blood cells during haematopoiesis. This thesis presents investigation of AML using mRNA gene expression profiles (GEP) of samples extracted from the bone marrow of healthy and diseased subjects...... genes and genetic signatures and for reducing dimensionally of gene expression data. Next, we have used machine-learning methods to predict survival and to assess important predictors based on these results. General application of a number of these methods has been implemented into two public query...

  9. Histogenesis of the myeloid system in geese.

    Science.gov (United States)

    Glavits, R; Ratz, F; Varga, Z; Stipkovits, L; Molnar, E

    1987-01-01

    Using light- and electron-microscopy the location in organs and the time-course of appearance of cells of the myeloid system was studied in goose embryos and goslings. Large numbers of cell forms representing different stages of granulocytopoiesis were found between 15 and 28 days of incubation in the mesenchyma of the kidney and in the reticular tissue of the spleen, but not in the liver and other organs. Thus, before the haemocytopoietic activity of the bone marrow, an activity typical of adult birds, develops, in geese embryonic extra-medullary granulocytopoiesis is characterised by a renal-lienal stage.

  10. A Broad Survey of Cathepsin K Immunoreactivity in Human Neoplasms

    Science.gov (United States)

    Zheng, Gang; Martignoni, Guido; Antonescu, Cristina; Montgomery, Elizabeth; Eberhart, Charles; Netto, George; Taube, Janis; Westra, William; Epstein, Jonathan I.; Lotan, Tamara; Maitra, Anirban; Gabrielson, Edward; Torbenson, Michael; Iacobuzio-Donahue, Christine; Demarzo, Angelo; Shih, Ie Ming; Illei, Peter; Wu, T.C.; Argani, Pedram

    2014-01-01

    Cathepsin K is consistently and diffusely expressed in alveolar soft part sarcoma (ASPS) and a subset of translocation renal cell carcinomas (RCCs). However, cathepsin K expression in human neoplasms has not been systematically analyzed. We constructed tissue microarrays (TMA) from a wide variety of human neoplasms, and performed cathepsin K immunohistochemistry (IHC). Only 2.7% of 1,140 carcinomas from various sites exhibited cathepsin K labeling, thus suggesting that among carcinomas, cathepsin K labeling is highly specific for translocation RCC. In contrast to carcinomas, cathepsin K labeling was relatively common (54.6%) in the 414 mesenchymal lesions studied, including granular cell tumor, melanoma, and histiocytic lesions, but not paraganglioma, all of which are in the morphologic differential diagnosis of ASPS. Cathepsin K IHC can be helpful in distinguishing ASPS and translocation RCC from some but not all of the lesions in their differential diagnosis. PMID:23355199

  11. Neoplastic disease after liver transplantation: Focus on de novo neoplasms.

    Science.gov (United States)

    Burra, Patrizia; Rodriguez-Castro, Kryssia I

    2015-08-07

    De novo neoplasms account for almost 30% of deaths 10 years after liver transplantation and are the most common cause of mortality in patients surviving at least 1 year after transplant. The risk of malignancy is two to four times higher in transplant recipients than in an age- and sex-matched population, and cancer is expected to surpass cardiovascular complications as the primary cause of death in transplanted patients within the next 2 decades. Since exposure to immunosuppression is associated with an increased frequency of developing neoplasm, long-term immunosuppression should be therefore minimized. Promising results in the prevention of hepatocellular carcinoma (HCC) recurrence have been reported with the use of mTOR inhibitors including everolimus and sirolimus and the ongoing open-label prospective randomized controlled SILVER. Study will provide more information on whether sirolimus-containing vs mTOR-inhibitor-free immunosuppression is more efficacious in reducing HCC recurrence.

  12. Prevalence of neoplasms in acromegaly in the Moscow Region

    Directory of Open Access Journals (Sweden)

    A. V. Dreval'

    2017-01-01

    Full Text Available Rationale: Prevalence of neoplasms in patients with acromegaly and the effects of various risk factors on their development have been insufficiently studied.Aim: To assess the prevalence of thyroid, gastric and colon neoplasms in patients with newly diagnosed acromegaly, depending on their age, gender, duration and activity of the underlying disease.Materials and methods: We retrospectively analyzed data extracted from out- and in-patient medical files of 108 patients with acromegaly (25 male, 93 female. Their median age was 50.5 [range 39.3 to 59] years, median duration of acromegaly 5 [range 2 to 10] years (starting from the first appearance of the first physique abnormalities. Thyroid ultrasound was performed in 96 patients, gastroscopy in 92, and colonoscopy in 89.Results: Benign thyroid nodules were found in 50% (48/96 of patients, malignant thyroid nodules in 6.2% (6/96. Insulinlike growth factor 1 (IGF-1 levels (calculated as a percentage above upper limit of the normal range in patients with thyroid cancer was 2.3-fold higher than in patients without nodular thyroid disease and 2-fold higher than in patients with benign thyroid nodules (р < 0.012 and p < 0.03, respectively. Malignant neoplasms were more often seen in the elderly (above 60 years of age, compared to younger adults (45 to 60 years (30.8% and 4.3% of patients, respectively, p = 0.01. Male patients had higher prevalence of thyroid cancer than female (11.1% and 5.1%, respectively. Benign gastrointestinal neoplasms were observed in 51.7% of patients (18% had gastric polyps and 37% colon polyps. Age and duration of acromegaly in patients with gastric neoplasms were higher, than in those without them (р = 0.015 and p = 0.036, respectively. Colon neoplasms consisted of hyperplastic polyps (33.7% and colon cancer (3% of patients. Patients with colon neoplasms were 11 years older than those without it (p = 0.015.Conclusion: Gastrointestinal

  13. Neoplastic disease after liver transplantation: Focus on de novo neoplasms

    Science.gov (United States)

    Burra, Patrizia; Rodriguez-Castro, Kryssia I

    2015-01-01

    De novo neoplasms account for almost 30% of deaths 10 years after liver transplantation and are the most common cause of mortality in patients surviving at least 1 year after transplant. The risk of malignancy is two to four times higher in transplant recipients than in an age- and sex-matched population, and cancer is expected to surpass cardiovascular complications as the primary cause of death in transplanted patients within the next 2 decades. Since exposure to immunosuppression is associated with an increased frequency of developing neoplasm, long-term immunosuppression should be therefore minimized. Promising results in the prevention of hepatocellular carcinoma (HCC) recurrence have been reported with the use of mTOR inhibitors including everolimus and sirolimus and the ongoing open-label prospective randomized controlled SILVER. Study will provide more information on whether sirolimus-containing vs mTOR-inhibitor-free immunosuppression is more efficacious in reducing HCC recurrence. PMID:26269665

  14. Disseminated encephalomyelitis-like central nervous system neoplasm in childhood.

    Science.gov (United States)

    Zhao, Jianhui; Bao, Xinhua; Fu, Na; Ye, Jintang; Li, Ting; Yuan, Yun; Zhang, Chunyu; Zhang, Yao; Zhang, Yuehua; Qin, Jiong; Wu, Xiru

    2014-08-01

    A malignant neoplasm in the central nervous system with diffuse white matter changes on magnetic resonance imaging (MRI) is rare in children. It could be misdiagnosed as acute disseminated encephalomyelitis. This report presents our experience based on 4 patients (3 male, 1 female; aged 7-13 years) whose MRI showed diffuse lesions in white matter and who were initially diagnosed with acute disseminated encephalomyelitis. All of the patients received corticosteroid therapy. After brain biopsy, the patients were diagnosed with gliomatosis cerebri, primitive neuroectodermal tumor and central nervous system lymphoma. We also provide literature reviews and discuss the differentiation of central nervous system neoplasm from acute disseminated encephalomyelitis. © The Author(s) 2013.

  15. Primary Intracranial Myoepithelial Neoplasm: A Potential Mimic of Meningioma.

    Science.gov (United States)

    Choy, Bonnie; Pytel, Peter

    2016-05-01

    Myoepithelial neoplasms were originally described in the salivary glands but their spectrum has been expanding with reports in other locations, including soft tissue. Intracranial cases are exceptionally rare outside the sellar region where they are assumed to be arising from Rathke pouch rests. Two cases of pediatric intracranial myoepithelial neoplasm in the interhemispheric fissure and the right cerebral hemisphere are reported here. Imaging studies suggest that the second case was associated with cerebrospinal fluid dissemination. Both cases showed typical variation in morphology and immunophenotype between more epithelioid and more mesenchymal features. The differential diagnosis at this particular anatomic location includes meningioma, which can show some overlap in immunophenotype since both tumors express EMA as well as GLUT1. One case was positive for EWSR1 rearrangement by fluorescence in situ hybridization. One patient is disease free at last follow-up while the other succumbed to the disease within days illustrating the clinical spectrum of these tumors. © The Author(s) 2015.

  16. Central Cemento-Ossifying Fibroma: Primary Odontogenic or Osseous Neoplasm?

    Science.gov (United States)

    Woo, Sook-Bin

    2015-12-01

    Currently, central cemento-ossifying fibroma is classified by the World Health Organization as a primary bone-forming tumor of the jaws. However, histopathologically, it is often indistinguishable from cemento-osseous dysplasias in that it forms osteoid and cementicles (cementum droplets) in varying proportions. It is believed that pluripotent cells within the periodontal membrane can be stimulated to produce either osteoid or woven bone and cementicles when stimulated. If this is true, cemento-ossifying fibroma would be better classified as a primary odontogenic neoplasm arising from the periodontal ligament. Cemento-ossifying fibromas also do not occur in the long bones. The present report compares several entities that fall within the diagnostic realm of benign fibro-osseous lesions and reviews the evidence for reclassifying central cemento-ossifying fibroma as a primary odontogenic neoplasm. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  17. Lesions and Neoplasms of the Penis: A Review.

    Science.gov (United States)

    Heller, Debra S

    2016-01-01

    In addition to practitioners who care for male patients, with the increased use of high-resolution anoscopy, practitioners who care for women are seeing more men in their practices as well. Some diseases affecting the penis can impact on their sexual partners. Many of the lesions and neoplasms of the penis occur on the vulva as well. In addition, there are common and rare lesions unique to the penis. A review of the scope of penile lesions and neoplasms that may present in a primary care setting is presented to assist in developing a differential diagnosis if such a patient is encountered, as well as for practitioners who care for their sexual partners. A familiarity will assist with recognition, as well as when consultation is needed.

  18. Cystic neoplasms of the pancreas: radiological-pathological correlation

    Energy Technology Data Exchange (ETDEWEB)

    Friedman, A.C. (Univ. of Health Sciences, Bethesda, MD); Lichtenstein, J.E.; Dachman, A.H.

    1983-10-01

    Microcystic adenomas and mucinous cystic neoplasms of the pancreas have often been described interchangeably (cystadenoma, cystadenocarcinoma), causing confusion with respect to their radiographic characteristics. The former are composed of innumerable tiny cysts and are benign, whereas the latter contain large, unilocular or multilocular cysts, sometimes with shaggy excrescences, and are either frankly or potentially malignant. Microcystic adenomas are angiographically hypervascular and may have central calcification. Sonographically, they have a mixed hypoechoic and echogenic pattern, while CT numbers reflect a mixture of connective tissue and proteinaceous fluid and contrast enhancement is seen. Mucinous cystic neoplasms are hypovascular and may have peripheral calcification; ultrasound and CT reflect their predominantly cystic character and demonstrate excrescences when present.

  19. Clinical Features of 294 Turkish Patients with Chronic Myeloproliferative Neoplasms

    OpenAIRE

    Neslihan Andıç; Mustafa Ünübol; Eren Yağcı; Olga Meltem Akay; İrfan Yavaşoğlu; Vefki Gürhan Kadıköylü; Ali Zahit Bolaman

    2016-01-01

    Objective: Myeloproliferative neoplasms (MPNs) share common clonal stem cells but show significant differences in their clinical courses. The aim of this retrospective study was to evaluate thrombotic and hemorrhagic complications, JAK2 status, gastrointestinal and cardiac changes, treatment modalities, and survival in MPNs in Turkish patients. Materials and Methods: Medical files of 294 patients [112 essential thrombocythemia (ET), 117 polycythemia vera (PV), 46 primary myelofibrosis, and 19...

  20. Transethmoidal meningocele: an unusual complication of intracranial neoplasm.

    Science.gov (United States)

    Singh, Deepak Kumar; Singh, Neha; Singh, Ragini

    2013-04-10

    Cranial meningoceles/encephaloceles are congenital malformations characterised by protrusion of the meninges and/or brain parenchyma because of a skull defect. Meningoceles secondary to an intracranial neoplasm have not been reported in the published literature. We report a unique case of a 42-year-old man who presented with a sudden onset of altered sensorium. Transethmoidal meningocele secondary to an intraventricular epidermoid cyst was detected on imaging.

  1. Blastic plasmacytoid dendritic cell neoplasm with absolute monocytosis at presentation

    Directory of Open Access Journals (Sweden)

    Jaworski JM

    2015-02-01

    Full Text Available Joseph M Jaworski,1,2 Vanlila K Swami,1 Rebecca C Heintzelman,1 Carrie A Cusack,3 Christina L Chung,3 Jeremy Peck,3 Matthew Fanelli,3 Micheal Styler,4 Sanaa Rizk,4 J Steve Hou1 1Department of Pathology and Laboratory Medicine, Hahnemann University Hospital/Drexel University College of Medicine, Philadelphia, PA, USA; 2Department of Pathology, Mercy Fitzgerald Hospital, Darby, PA, USA; 3Department of Dermatology, Hahnemann University Hospital/Drexel University College of Medicine, Philadelphia, PA, USA; 4Department of Hematology/Oncology, Hahnemann University Hospital/Drexel University College of Medicine, Philadelphia, PA, USA Abstract: Blastic plasmacytoid dendritic cell neoplasm is an uncommon malignancy derived from precursors of plasmacytoid dendritic cells. Nearly all patients present initially with cutaneous manifestations, with many having extracutaneous disease additionally. While response to chemotherapy initially is effective, relapse occurs in most, with a leukemic phase ultimately developing. The prognosis is dismal. While most of the clinical and pathologic features are well described, the association and possible prognostic significance between peripheral blood absolute monocytosis (>1.0 K/µL and blastic plasmacytoid dendritic cell neoplasm have not been reported. We report a case of a 68-year-old man who presented with a rash for 4–5 months. On physical examination, there were multiple, dull-pink, indurated plaques on the trunk and extremities. Complete blood count revealed thrombocytopenia, absolute monocytosis of 1.7 K/µL, and a negative flow cytometry study. Biopsy of an abdominal lesion revealed typical features of blastic plasmacytoid dendritic cell neoplasm. Patients having both hematologic and nonhematologic malignancies have an increased incidence of absolute monocytosis. Recent studies examining Hodgkin and non-Hodgkin lymphoma patients have suggested that this is a negative prognostic factor. The association between

  2. Endoscopic Diagnosis of Leiomyosarcoma of the Esophagus, a Rare Neoplasm

    OpenAIRE

    Ravini, Mario; Torre, Massimo; Zanasi, Giulio; Vanini, Marco; Camozzi, Mario

    1998-01-01

    We report a case of leiomyosarcoma of the distal third of the esophagus in a 51-year-old woman presenting with a six-month history of severe epigastric pain, disphagia and weight loss. The diagnosis, suspected on endoscopic examination, was preoperatively acheived by biopsy and immunohistological stain. Surgical treatment was undertaken with good results. Differentiation between leiomyosarcoma and more common esophageal neoplasm may be difficult if based on radiographic and endoscopic appeara...

  3. Raman spectroscopy for the assessment of acute myeloid leukemia: a proof of concept study

    Science.gov (United States)

    Vanna, R.; Tresoldi, C.; Ronchi, P.; Lenferink, A. T. M.; Morasso, C.; Mehn, D.; Bedoni, M.; Terstappen, L. W. M. M.; Ciceri, F.; Otto, C.; Gramatica, F.

    2014-03-01

    Acute myeloid leukemia (AML) is a proliferative neoplasm, that if not properly treated can rapidly cause a fatal outcome. The diagnosis of AML is challenging and the first diagnostic step is the count of the percentage of blasts (immature cells) in bone marrow and blood sample, and their morphological characterization. This evaluation is still performed manually with a bright field light microscope. Here we report results of a study applying Raman spectroscopy for analysis of samples from two patients affected by two AML subtypes characterized by a different maturation stage in the neutrophilic lineage. Ten representative cells per sample were selected and analyzed with high-resolution confocal Raman microscopy by scanning 64x64 (4096) points in a confocal layer through the volume of the whole cell. The average spectrum of each cell was then used to obtain a highly reproducible mean fingerprint of the two different AML subtypes. We demonstrate that Raman spectroscopy efficiently distinguishes these different AML subtypes. The molecular interpretation of the substantial differences between the subtypes is related to granulocytic enzymes (e.g. myeloperoxidase and cytochrome b558), in agreement with different stages of maturation of the two considered AML subtypes . These results are promising for the development of a new, objective, automated and label-free Raman based methods for the diagnosis and first assessment of AML.

  4. Towards Comprehension of the ABCB1/P-Glycoprotein Role in Chronic Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    Raquel C. Maia

    2018-01-01

    Full Text Available Abstract: The introduction of imatinib (IM, a BCR-ABL1 tyrosine kinase inhibitor (TKI, has represented a significant advance in the first-line treatment of chronic myeloid leukemia (CML. However, approximately 30% of patients need to discontinue IM due to resistance or intolerance to this drug. Both resistance and intolerance have also been observed in treatment with the second-generation TKIs—dasatinib, nilotinib, and bosutinib—and the third-generation TKI—ponatinib. The mechanisms of resistance to TKIs may be BCR-ABL1-dependent and/or BCR-ABL1-independent. Although the role of efflux pump P-glycoprotein (Pgp, codified by the ABCB1 gene, is unquestionable in drug resistance of many neoplasms, a longstanding question exists about whether Pgp has a firm implication in TKI resistance in the clinical scenario. The goal of this review is to offer an overview of ABCB1/Pgp expression/activity/polymorphisms in CML. Understanding how interactions, associations, or cooperation between Pgp and other molecules—such as inhibitor apoptosis proteins, microRNAs, or microvesicles—impact IM resistance risk may be critical in evaluating the response to TKIs in CML patients. In addition, new non-TKI compounds may be necessary in order to overcome the resistance mediated by Pgp in CML.

  5. Towards Comprehension of the ABCB1/P-Glycoprotein Role in Chronic Myeloid Leukemia.

    Science.gov (United States)

    Maia, Raquel C; Vasconcelos, Flavia C; Souza, Paloma S; Rumjanek, Vivian M

    2018-01-07

    Abstract: The introduction of imatinib (IM), a BCR-ABL1 tyrosine kinase inhibitor (TKI), has represented a significant advance in the first-line treatment of chronic myeloid leukemia (CML). However, approximately 30% of patients need to discontinue IM due to resistance or intolerance to this drug. Both resistance and intolerance have also been observed in treatment with the second-generation TKIs-dasatinib, nilotinib, and bosutinib-and the third-generation TKI-ponatinib. The mechanisms of resistance to TKIs may be BCR-ABL1-dependent and/or BCR-ABL1-independent. Although the role of efflux pump P-glycoprotein (Pgp), codified by the ABCB1 gene, is unquestionable in drug resistance of many neoplasms, a longstanding question exists about whether Pgp has a firm implication in TKI resistance in the clinical scenario. The goal of this review is to offer an overview of ABCB1/Pgp expression/activity/polymorphisms in CML. Understanding how interactions, associations, or cooperation between Pgp and other molecules-such as inhibitor apoptosis proteins, microRNAs, or microvesicles-impact IM resistance risk may be critical in evaluating the response to TKIs in CML patients. In addition, new non-TKI compounds may be necessary in order to overcome the resistance mediated by Pgp in CML.

  6. Dasatinib Induced Avascular Necrosis of Femoral Head in Adult Patient with Chronic Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    Mohamed A. Yassin

    2015-01-01

    Full Text Available Chronic myeloid leukemia (CML is a myeloproliferative neoplasm characterized by the presence of the Philadelphia (Ph chromosome resulting from the reciprocal translocation t(9;22(q34;q11. The molecular consequence of this translocation is the generation of the BCR-ABL fusion gene, which encodes a constitutively active protein tyrosine kinase. The oncogenic protein tyrosine kinase, which is located in the cytoplasm, is responsible for the leukemia phenotype through the constitutive activation of multiple signaling pathways involved in the cell cycle and in adhesion and apoptosis. Avascular necrosis of the femoral head (AVNFH is not a specific disease. It occurs as a complication or secondary to various causes. These conditions probably lead to impaired blood supply to the femoral head. The diagnosis of AVNFH is based on clinical findings and is supported by specific radiological manifestations. We reported a case of a 34-year-old Sudanese female with CML who developed AVNFH after receiving dasatinib as a second-line therapy. Though the mechanism by which dasatinib can cause avascular necrosis (AVN is not clear, it can be postulated because of microcirculatory obstruction of the femoral head. To the best of our knowledge and after extensive literature search, this is the first reported case of AVNFH induced by dasatinib in a patient with CML.

  7. Dynamic Length Changes of Telomeres and Their Nuclear Organization in Chronic Myeloid Leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Samassekou, Oumar [Manitoba Institute of Cell Biology, Cancer Care Manitoba, Department of Physiology, University of Manitoba, Winnipeg, Manitoba R3E 0V9 (Canada)

    2013-08-22

    Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the t(9;22) translocation. As in most cancers, short telomeres are one of the features of CML cells, and telomere shortening accentuates as the disease progresses from the chronic phase to the blastic phase. Although most individual telomeres are short, some of them are lengthened, and long individual telomeres occur non-randomly and might be associated with clonal selection. Telomerase is the main mechanism used to maintain telomere lengths, and its activity increases when CML evolves toward advanced stages. ALT might be another mechanism employed by CML cells to sustain the homeostasis of their telomere lengths and this mechanism seems predominant at the early stage of leukemogenesis. Also, telomerase and ALT might jointly act to maintain telomere lengths at the chronic phase, and as CML progresses, telomerase becomes the major mechanism. Finally, CML cells display an altered nuclear organization of their telomeres which is characterized by the presence of high number of telomeric aggregates, a feature of genomic instability, and differential positioning of telomeres. CML represents a good model to study mechanisms responsible for dynamic changes of individual telomere lengths and the remodeling of telomeric nuclear organization throughout cancer progression.

  8. Extramedullary Acute Myeloid Leukemia: Leukemic Pleural Effusion, Case Report and Review of the Literature

    Science.gov (United States)

    Pemmaraju, Naveen; Chang, Elaine; Daver, Naval; Patel, Keyur; Jorgensen, Jeffrey; Sabloff, Bradley; Verstovsek, Srdan; Borthakur, Gautam

    2014-01-01

    Objective and Importance: Malignant pleural effusions occur in the setting of both solid and hematologic malignancies. Pleural effusion caused by leukemic infiltration is an unusual extramedullary manifestation of acute myeloid leukemia (AML) with fewer than 20 cases reported (1–11). We report a case of pericardial and pleural effusions in a patient with AML and review the literature. Clinical Presentation: In this case, a 55-year-old man with previous history of myeloproliferative neoplasm experienced transformation AML, heralded by appearance of leukemic pleural effusions. The patient was identified to have leukemic pleural effusion based on the extended cytogenetic analysis of the pleural fluid, as morphologic analysis alone was insufficient. Intervention: The patient was treated with hypomethylator-based and intensive chemotherapy strategies, both of which maintained resolution of the effusions in the remission setting. Conclusion: Due to the rarity of diagnosis of leukemic pleural effusions, both cytogenetic and fluorescence in situ hybridization testing are recommended. Furthermore, systemic chemotherapy directed at the AML can lead to complete resolution of leukemic pleural effusions. PMID:24918086

  9. [Resection of macrosis benign parapharyngeal neoplasms via oral approach].

    Science.gov (United States)

    Li, Shuhua; Shi, Hongjin; Wu, Dahai

    2014-10-01

    To explore investigate the feasibility of transoral removal of macrosis benign neoplasms in parapharyngeal space. Sixteen patients with well-defined macrosis benign parapharyngeal space tumors treated by surgery from January 2005 to December 2012 were enrolled in this study. All patients were assessed by CT scan, MRI and CT angiography before surgery. Surgery for the tumors with complete peplos, locating at medial side of carotid and accessible from the oropharynx was completed with the assistance of endoscope, bipolar electrocoagulation or radiofrequency ablation system. All neoplasms were removed by transoral approach. Tracheotomy was performed in 4 cases. All patients were treated successfully with good postoperative recovery and no significant complications. Postoperative pathological examination showed there were 9 cases of pleomorphic adenoma, 5 cases of neurilemmoma and 2 cases of neurofibroma. By the follows-up of 1-8 years (median 31 months), among 16 cases only one case of neurofibroma recurred. The transoral removal of macrosis benign neoplasms in parapharyngeal space is safe, manimally invasive and feasible in selected cases, with a high local control rate and a low surgical complication rate.

  10. Preoperative brush and impression cytology in ocular surface squamous neoplasms.

    Science.gov (United States)

    Ersöz, Canan; Yağmur, Meltem; Ersöz, T Reha; Yalaz, Müslime

    2003-01-01

    Preoperative cytologic diagnoses of ocular surface squamous neoplasms were evaluated and compared with histologic diagnoses. Impression cytology (Millipore filter paper) and brush cytology were applied to 32 patients who had conjunctival neoplasms. Papanicolaou-stained cytologic preparations and hematoxylin and eosin-stained histologic sections were examined by light microscopy. The brush technique was used on 27 patients; impression cytology was applied in 5 cases. Cytologic and histologic diagnoses were concordant in 26 cases. Squamous cell carcinoma or carcinoma in situ was diagnosed in 18 and dysplasia in 4 cases. Squamous metaplasia and normal-appearing conjunctival epithelial cells were diagnosed cytologically in four cases; of those histologic diagnoses, one was pterygium and three, conjunctival nevus. Four cases revealed discrepancies between the cytologic and histologic preparations. There was one false positive result, and one case was subconjunctival invasion of basal cell carcinoma of the eyelid. Impression and brush cytology are fast, cost-effective, reliable and noninvasive diagnostic tools for ocular surface squamous neoplasms. However, the brush technique has several advantages over impression cytology.

  11. [Clinical analysis of therapeutic bronchoscopy for tracheal neoplasm].

    Science.gov (United States)

    Ding, Y F; Chen, L; Huang, H D; Dong, Y C; Yao, X P; Huang, Y; Wang, Q; Zhang, W; Li, Q; Bai, C

    2017-06-12

    Objective: To analyze the clinical features in adults with tracheal neoplasm and to evaluate the efficacy of interventional bronchoscopic treatment. Methods: We retrospectively analyzed the clinical features of 43 adults undergoing therapeutic bronchoscopy for tracheal neoplasm diagnosed in Changhai Hospital affiliated to the Second Military Medical University from January 2004 to July 2014.The degree of stenosis, the grade of dyspnea, and Karnofsky performance status scale were evaluated before and after the last procedure. All cases were followed up for 2 years. Results: The 43 cases took (4.6±3.9) months on average to be diagnosed since initial symptom. The initial misdiagnosis rate was 41.9%(18/43), and 11 cases were mistaken for asthma (11/43). Malignant tumors were more common than benign tumors for tracheal neoplasm in adults. Squamous cell carcinoma and adenoid cystic carcinoma were the top 2 histological types. Central airway obstruction was completely or partially alleviated with significant relief of dyspnea after the procedures, and all 6 cases of tracheal benign tumors got complete alleviation (the overall response rate was 100%). The grade of dyspnea was 3.2±0.7 before and 1.5±0.8 after the procedures(t=6.63, Pneoplasm.

  12. High grade neuroendocrine neoplasm of the antrum and orbit.

    Science.gov (United States)

    MacIntosh, Peter W; Jakobiec, Frederick A; Stagner, Anna M; Gilani, Sapideh; Fay, Aaron

    2015-01-01

    Neuroendocrine malignancies-tumors characterized by the production of dense-core secretory granules-are most often encountered in the lungs and can also be found in extrapulmonary sites. Our patient had a primary neuroendocrine tumor of the antrum with an elusive cell of origin that secondarily invaded the inferior orbit. In the sinuses, neuroendocrine tumors may be confused with infectious sinusitis or squamous cell carcinoma. There are no known pathognomonic clinical or radiographic signs to distinguish these tumors from other conditions. Diagnosis depends on a biopsy with histopathologic and immunohistochemical analysis to identify biomarkers such as synaptophysin, chromogranin, CD56 and neuron specific enolase. Our patient's tumor defied precise immunohistochemical characterization because of its primitive character and erratic biomarker expression. The diagnosis oscillated between a neuroendocrine carcinoma and an ectopic esthesioneuroblastoma grade IV-hence the use of the more generic nosologic category of neuroendocrine neoplasm without specifying a neuronal or epithelial origin. Data to guide management are limited, particularly in the ophthalmic literature, and derive from experience with tumors of the sinonasal compartments. In the present case of a sino-orbital high grade neuroendocrine neoplasm, regional lymph node metastases developed shortly after presentation. The tumor has responded well to chemotherapy and radiation, but recurrence is often encountered within 2 years in this class of neoplasms. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. MALIGNANT NEOPLASMS IN CHILDREN: CLINICAL MANIFESTATIONS AND DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    Maxim Yu. Rykov

    2017-01-01

    Full Text Available Treatment efficacy for children with cancer depends on the diagnosis timeliness since the earlier expert care has been started, the higher likelihood there is to achieve remission. In this regard, a special role belongs to primary care physicians — district pediatricians who should timely recognize the malignant neoplasm and refer the patient to a pediatric oncologist for advice. Wherein, a limited number of primary patients and atypical course of oncological diseases are the causes of a decrease in oncological alertness. This lecture is aimed at a wide range of specialists (pediatricians, radiologists, pathologists and devoted to clinical manifestations and diagnosis of malignant neoplasms in children — hemoblastosis and solid tumours. The suggested algorithms for the examination of patients will allow to make a diagnosis faster and timely initiate expert care in specialized departments. The article is illustrated with unique pictures — images of histological specimens, MRI, and CT of patients with the most neglected cases of malignant neoplasms being the result of diagnostic errors of pediatricians. 

  14. Molecularly-Driven Doublet Therapy for Recurrent CNS Malignant Neoplasms

    Science.gov (United States)

    2018-02-20

    Anaplastic Astrocytoma; Anaplastic Ependymoma; Anaplastic Ganglioglioma; Anaplastic Meningioma; Anaplastic Oligodendroglioma; Pleomorphic Xanthoastrocytoma, Anaplastic; Atypical Teratoid/Rhabdoid Tumor; Brain Cancer; Brain Tumor; Central Nervous System Neoplasms; Choroid Plexus Carcinoma; CNS Embryonal Tumor With Rhabdoid Features; Ganglioneuroblastoma of Central Nervous System; CNS Tumor; Embryonal Tumor of CNS; Ependymoma; Glioblastoma; Glioma; Glioma, Malignant; Medulloblastoma; Medulloblastoma; Unspecified Site; Medulloepithelioma; Neuroepithelial Tumor; Neoplasms; Neoplasms, Neuroepithelial; Papillary Tumor of the Pineal Region (High-grade Only); Pediatric Brain Tumor; Pineal Parenchymal Tumor of Intermediate Differentiation (High-grade Only); Pineoblastoma; Primitive Neuroectodermal Tumor; Recurrent Medulloblastoma; Refractory Brain Tumor; Neuroblastoma. CNS; Glioblastoma, IDH-mutant; Glioblastoma, IDH-wildtype; Medulloblastoma, Group 3; Medulloblastoma, Group 4; Glioma, High Grade; Neuroepithelial Tumor, High Grade; Medulloblastoma, SHH-activated and TP53 Mutant; Medulloblastoma, SHH-activated and TP53 Wildtype; Medulloblastoma, Chromosome 9q Loss; Medulloblastoma, Non-WNT Non-SHH, NOS; Medulloblastoma, Non-WNT/Non-SHH; Medulloblastoma, PTCH1 Mutation; Medulloblastoma, WNT-activated; Ependymoma, Recurrent; Glioma, Recurrent High Grade; Glioma, Recurrent Malignant; Embryonal Tumor, NOS; Glioma, Diffuse Midline, H3K27M-mutant; Embryonal Tumor With Multilayered Rosettes (ETMR); Ependymoma, NOS, WHO Grade III; Ependymoma, NOS, WHO Grade II; Medulloblastoma, G3/G4; Ependymoma, RELA Fusion Positive

  15. Tryptophan autofluorescence imaging of neoplasms of the human colon

    Science.gov (United States)

    Banerjee, Bhaskar; Renkoski, Timothy; Graves, Logan R.; Rial, Nathaniel S.; Tsikitis, Vassiliki Liana; Nfonsom, Valentine; Pugh, Judith; Tiwari, Piyush; Gavini, Hemanth; Utzinger, Urs

    2012-01-01

    Detection of flat neoplasia is a major challenge in colorectal cancer screening, as missed lesions can lead to the development of an unexpected `incident' cancer prior to the subsequent endoscopy. The use of a tryptophan-related autofluorescence has been reported to be increased in murine intestinal dysplasia. The emission spectra of cells isolated from human adenocarcinoma and normal mucosa of the colon were studied and showed markedly greater emission intensity from cancerous cells compared to cells obtained from the surrounding normal mucosa. A proto-type multispectral imaging system optimized for ultraviolet macroscopic imaging of tissue was used to obtain autofluorescence images of surgical specimens of colonic neoplasms and normal mucosa after resection. Fluorescence images did not display the expected greater emission from the tumor as compared to the normal mucosa, most probably due to increased optical absorption and scattering in the tumors. Increased fluorescence intensity in neoplasms was observed however, once fluorescence images were corrected using reflectance images. Tryptophan fluorescence alone may be useful in differentiating normal and cancerous cells, while in tissues its autofluorescence image divided by green reflectance may be useful in displaying neoplasms.

  16. Intraductal papillary neoplasm originating from an anomalous bile duct.

    Science.gov (United States)

    Maki, Harufumi; Aoki, Taku; Ishizawa, Takeaki; Tanaka, Mariko; Sakatani, Takashi; Beck, Yoshifumi; Hasegawa, Kiyoshi; Sakamoto, Yoshihiro; Kokudo, Norihiro

    2017-04-01

    An 82-year-old woman who had been suffering from repeated obstructive jaundice for 7 years was referred to our hospital. Although endoscopic aspiration of the mucin in the common bile duct had been temporally effective, origin of the mucin production had not been detectable. The patient thus had been forced to be on long-term follow-up without curative resection. Endoscopic retrograde cholangioscopy on admission revealed massive mucin in the common bile duct. In addition, an anomalous bile duct located proximal to the gallbladder was identified. Since the lumen of the anomalous duct was irregular and the rest of biliary tree was completely free of suspicious lesions, the anomalous duct was judged to be the primary site. Surgical resection of the segment 4 and 5 of the liver combined with the extrahepatic biliary tract was performed. Pathological diagnosis was compatible to intraductal papillary neoplasm with high-grade intraepithelial dysplasia of the anomalous bile duct. The patient has been free from the disease for 6.5 years after resection. This is the first case of intraductal papillary neoplasm derived from an anomalous bile duct, which was resected after long-term conservative treatment. The present case suggested the slow growing character of natural history of the neoplasm.

  17. Acute Myeloid Leukaemia Presenting as Gaze Palsy

    Directory of Open Access Journals (Sweden)

    Evripidis Sykakis

    2011-11-01

    Full Text Available The most frequent initial ocular manifestation of acute myeloid leukaemia (AML is retinal involvement. Here, we report an unusual case of AML associated with a pontine chloroma presenting with gaze palsy as the initial symptom. A 77-year-old Caucasian man presented to the Eye Casualty complaining of a one-day history of blurred vision. On examination, his face was turned to the left, both eyes were fixed in dextroversion and the patient demonstrated left gaze palsy associated with left motor neurone VII palsy. Baseline blood investigations revealed leucocytosis with 60% circulating myeloblasts. A bone marrow biopsy confirmed the diagnosis of myelomonocytic leukaemia. A CT scan showed a well-circumscribed lesion in the dorsal pons, most likely representing a chloroma. Chloromas or myeloblastomas related to AML are localised extramedullary tumours composed of leukaemic myeloid cells. Chloromas may be present at the time of the initial diagnosis of leukaemia or may precede the diagnosis by 1 month to 2 years; however, their occurrence in the central nervous system is rare, comprising 1–6% of all chloromas. This case illustrates the many different ways that AML can manifest itself in the eyes, and ophthalmologists should be aware of the great variety of presenting symptoms in undiagnosed AML.

  18. Patients with a resected pancreatic mucinous cystic neoplasm have a better prognosis than patients with an intraductal papillary mucinous neoplasm : A large single institution series

    NARCIS (Netherlands)

    Griffin, James F; Page, Andrew J; Samaha, Georges J; Christopher, Adrienne; Bhaijee, Feriyl; Pezhouh, Maryam K; Peters, Niek A.; Hruban, Ralph H.; He, Jin; Makary, Martin A; Lennon, Anne Marie; Cameron, John L; Wolfgang, Christopher L; Weiss, Matthew J

    2017-01-01

    BACKGROUND/OBJECTIVES: Mucinous cystic neoplasms (MCNs) are rare pancreas tumors distinguished from intraductal papillary mucinous neoplasms (IPMNs) by the presence of ovarian-type stroma. Historical outcomes for MCNs vary due to previously ambiguous diagnostic criteria resulting in confusion with

  19. Impact of cancer therapy-related exposures on late mortality in childhood cancer survivors

    Science.gov (United States)

    Gibson, Todd M.; Robison, Leslie L.

    2015-01-01

    Survival of children and adolescents diagnosed with cancer has improved dramatically in recent decades, but the substantial burden of late morbidity and mortality (i.e. more than five years after cancer diagnosis) associated with pediatric cancer treatments is increasingly being recognized. Progression or recurrence of the initial cancer is a primary cause of death in the initial post-diagnosis period, but as survivors age there is a dramatic shift in the cause-specific mortality profile. By 15 years post-diagnosis, the death rate attributable to health-related causes other than recurrence or external causes (e.g. accidents, suicide, assault) exceeds that due to primary disease, and by 30 years these causes account for the largest proportion of cumulative mortality. The two most prominent causes of treatment-related mortality in childhood cancer survivors are subsequent malignant neoplasms and cardiovascular problems, incidence of which can be largely attributed to the long-term toxicities of radiation and chemotherapy exposures. These late effects of treatment are likely to increase in importance as survivors continue to age, inspiring continued research to better understand their etiology and to inform early detection or prevention efforts. PMID:25474125

  20. Clinicopathologic characteristics of patients with resected multifocal intraductal papillary mucinous neoplasm of the pancreas.

    Science.gov (United States)

    Fritz, Stefan; Schirren, Moritz; Klauss, Miriam; Bergmann, Frank; Hackert, Thilo; Hartwig, Werner; Strobel, Oliver; Grenacher, Lars; Büchler, Markus W; Werner, Jens

    2012-09-01

    Intraductal papillary mucinous neoplasms of the pancreas are defined as mucin-producing neoplasms arising in the main pancreatic duct (main duct type), its major branches (branch duct type), or in both (mixed type). Intraductal papillary mucinous neoplasms of the pancreas can occur as a single collection of cysts or as multifocal lesions. While subtypes of intraductal papillary mucinous neoplasms of the pancreas are well described in literature, little is known about the importance of multifocal intraductal papillary mucinous neoplasms of the pancreas. This study evaluated the clinicopathologic characteristics of patients with surgically resected, multifocal intraductal papillary mucinous neoplasm of the pancreas. Clinicopathologic features and preoperative imaging of patients resected for multifocal intraductal papillary mucinous neoplasm of the pancreas defined as intraductal papillary mucinous neoplasm of the pancreas occurring in more than just 1 area, from January 2004 to July 2010 at the Department of Surgery, University of Heidelberg were analyzed. Preoperative parameters, including number of cysts, cyst size, presence of nodules, and epidemiologic data, were assessed and compared to patients with unifocal intraductal papillary mucinous neoplasms of the pancreas. Among 287 patients with resected intraductal papillary mucinous neoplasms of the pancreas, 51 patients (17.8%) with multifocal cystic pancreatic lesions were identified by preoperative imaging. The median age of patients with multifocal intraductal papillary mucinous neoplasms of the pancreas was ≥ 68 years (P = .002) compared to patients with unifocal intraductal papillary mucinous neoplasm of the pancreas (median age, 64 years). Thirty-one multifocal intraductal papillary mucinous neoplasms of the pancreas were of mixed type (60.8%), 15 of branch duct type (29.4%), and 5 of main duct type (9.8%). Histologically, 10 multifocal intraductal papillary mucinous neoplasms of the pancreas had low

  1. Classification of feline intraocular neoplasms based on morphology, histochemical staining, and immunohistochemical labeling.

    Science.gov (United States)

    Grahn, Bruce H; Peiffer, Robert L; Cullen, Cheryl L; Haines, Deborah M

    2006-01-01

    The objectives of this study were to evaluate morphologic, histochemical, and immunohistochemical characteristics of well-differentiated and anaplastic intraocular neoplasms of cats, and to develop a diagnostic algorithm for, and investigate the association of ruptured lenses with these neoplasms. Seventy-five feline globes with intraocular neoplasms were stained with hematoxylin and eosin and examined by light microscopy. Morphologic diagnoses included 33 intraocular sarcomas, 17 diffuse iris melanomas, 15 lymphosarcomas, three ciliary adenomas, one metastatic carcinoma, and six undifferentiated intraocular neoplasms. Sections of these globes were then stained with periodic acid Schiff (PAS), and immunohistochemical (IHC) labels for various cellular markers. Histochemical staining and IHC labeling confirmed cellular differentiation in 73/75 neoplasms but was discordant with morphologic diagnoses in 8/75. These included four neoplasms morphologically diagnosed as lymphosarcomas but which expressed differentiation antigens consistent with melanoma (n = 3) or ciliary adenocarcinoma (n = 1), and four tumors morphologically diagnosed as intraocular sarcomas that expressed differentiation antigens for melanoma (n = 2), metastatic carcinoma (n = 1), or remained undifferentiated (n = 1). Immunohistochemical labeling suggested a diagnosis in 5/6 morphologically undifferentiated neoplasms including one intraocular sarcoma, two diffuse iridal melanomas, and two ciliary adenocarcinomas. Based upon morphologic, histochemical, and IHC characterization, ruptured lens capsules were detected in 28/30 intraocular sarcomas, 3/24 diffuse iris melanomas and 1/11 lymphosarcomas, but not in ciliary epithelial neoplasms, metastatic carcinomas, or undifferentiated intraocular neoplasms. An algorithm is provided that facilitates stain and IHC label selection for differentiating anaplastic intraocular feline neoplasms.

  2. Characterization of gene expression and activated signaling pathways in solid-pseudopapillary neoplasm of pancreas.

    Science.gov (United States)

    Park, Minhee; Kim, Minhyung; Hwang, Daehee; Park, Misun; Kim, Won Kyu; Kim, Sang Kyum; Shin, Jihye; Park, Eun Sung; Kang, Chang Moo; Paik, Young-Ki; Kim, Hoguen

    2014-04-01

    Solid-pseudopapillary neoplasm is an uncommon pancreatic tumor with distinct clinicopathologic features. Solid-pseudopapillary neoplasms are characterized by mutations in exon 3 of CTNNB1. However, little is known about the gene and microRNA expression profiles of solid-pseudopapillary neoplasms. Thus, we sought to characterize solid-pseudopapillary neoplasm-specific gene expression and identify the signaling pathways activated in these tumors. Comparisons of gene expression in solid-pseudopapillary neoplasm to pancreatic ductal carcinomas, neuroendocrine tumors, and non-neoplastic pancreatic tissues identified solid-pseudopapillary neoplasm-specific mRNA and microRNA profiles. By analyzing 1686 (1119 upregulated and 567 downregulated) genes differentially expressed in solid-pseudopapillary neoplasm, we found that the Wnt/β-catenin, Hedgehog, and androgen receptor signaling pathways, as well as genes involved in epithelial mesenchymal transition, are activated in solid-pseudopapillary neoplasms. We validated these results experimentally by assessing the expression of β-catenin, WIF-1, GLI2, androgen receptor, and epithelial-mesenchymal transition-related markers with western blotting and immunohistochemistry. Our analysis also revealed 17 microRNAs, especially the miR-200 family and miR-192/215, closely associated with the upregulated genes associated with the three pathways activated in solid-pseudopapillary neoplasm and epithelial mesenchymal transition. Our results provide insight into the molecular mechanisms underlying solid-pseudopapillary neoplasm tumorigenesis and its characteristic less epithelial cell differentiation than the other common pancreatic tumors.

  3. Differential Expression of Glycolysis-Related Proteins in Follicular Neoplasms versus Hürthle Cell Neoplasms: A Retrospective Analysis

    Directory of Open Access Journals (Sweden)

    Hye Min Kim

    2017-01-01

    Full Text Available Purpose. Although currently classified as variants of follicular neoplasms (FNs, Hürthle cell neoplasms (HCNs exhibit distinct biological characteristics. Hence, the metabolism of both neoplasms may also be different. The aims of this study were to investigate and compare the expression of glycolysis-related proteins in HCNs and FNs and to determine the clinical implications of such expression. Methods. Tissue microarrays were constructed with 265 samples of FNs (112 follicular carcinomas (FCs and 153 follicular adenomas (FAs as well as 108 samples of HCNs (27 Hürthle cell carcinomas (HCCs and 81 Hürthle cell adenomas (HCAs. Immunohistochemical staining for the glycolysis-related molecules Glut-1, hexokinase II, CAIX, and MCT4 was performed. Results. The expression levels of Glut-1, hexokinase II, CAIX, and MCT4 were significantly higher in HCNs than in FNs (p4 cm (p=0.046, CAIX positivity with vascular invasion (p=0.005, and MCT4 positivity with extrathyroidal extension (p=0.030. Conclusion. The expression levels of the glycolysis-related proteins Glut-1, hexokinase II, CAIX, and MCT4 were higher in HCNs than in FNs and in HCCs than in HCAs.

  4. Isolated intracranial myeloid sarcoma occurring as relapse in acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Geetha Narayanan

    2017-01-01

    Full Text Available Myeloid sarcoma (MS or chloroma is a rare extramedullary tumor composed of extramedullary proliferation of blasts of granulocytic, monocytic, erythroid, or megakaryocytic lineage occurring at sites outside the bone marrow. MS occurs in 2%–8% of patients with acute myeloid leukemia (AML, sometimes it occurs as the presenting manifestation of relapse in a patient in remission. We describe the case of a young male with AML in remission for 6 years presenting with central nervous system symptoms. Magnetic resonance imaging showed an extra-axial altered intensity lesion in the parasagittal parietal region, infiltrating anterosuperiorly into anterior falx, and posterosuperior aspect of the superior sagittal sinus. A biopsy from the lesion was diagnostic of MS which was positive for myeloperoxidase. He did not have any other sites of disease. He has received chemotherapy with FLAG ( Fludarabine, Cytosine arabinoside followed by cranial irradiation and is in complete remission.

  5. Bilateral orbital myeloid sarcoma as initial manifestation of acute myeloid leukemia.

    Science.gov (United States)

    Hmidi, Kamel; Zaouali, Sonia; Messaoud, Riadh; Mahjoub, Bahri; Ammari, Wafa; Bacha, Leila; Laatiri, Adnene; Jenzeri, Salah; Khairallah, Moncef

    2007-12-01

    Granulocytic sarcoma is a rare orbital complication of acute leukemia. It concerns primarily children under 10 years of age suffering from primitive acute myeloid leukemia. The diagnosis is made by clinical examination, computed tomography and confirmed by haematological investigations. The treatment approach is based on chemotherapy associated with intravenous steroid therapy. We report the case of a 6-year-old girl who presented with bilateral proptosis revealing acute myeloid leukemia. The patient was treated by a combination of chemotherapeutic drugs in two phases, associated with intravenous steroids. After a follow-up period of 24 months, the patient was in complete remission. The diagnosis of granulocytic sarcoma should be considered in any orbital mass of uncertain origin, particularly if it is bilateral. Special stains and immunohistochemistry play an important role in the diagnosis.

  6. Therapy-related acute promyelocytic leukemia following etoposide-based chemotherapy in non-seminomatous germ cell tumor

    Directory of Open Access Journals (Sweden)

    T N Kumar

    2014-01-01

    Full Text Available Therapy related AML (t- AML accounts for 10-20% of all cases of AML. Cytotoxic agents implicated are alkylating agents, topoisomerase II inhibitors and rarely anti metabolites and anti tubulin agents. A growing incidence of therapy related acute promyelocytic leukemia (t-APL has been reported over the last few decades in malignant and non malignant conditions. To the best of our knowledge this is the first t-APL case report to be reported in NSGCT post etoposide based therapy.

  7. The 2008 World Health Organization classification system for myeloproliferative neoplasms: order out of chaos

    National Research Council Canada - National Science Library

    Tefferi, Ayalew; Thiele, Juergen; Vardiman, James W

    2009-01-01

    ...), and primary myelofibrosis (PMF). The 2001 World Health Organization (WHO) classification of myeloid malignancies included these MPDs under the broader category of chronic myeloproliferative diseases (CMPD...

  8. Multiple neoplasms among cervical cancer patients in the material of the lower Silesian cancer registry.

    Science.gov (United States)

    Izmajłowicz, Barbara; Kornafel, Jan; Błaszczyk, Jerzy

    2014-01-01

    According to the definition by the International Agency for Research on Cancer (IARC), primary multiple neoplasms are two or more neoplasms of different histopathological build in one organ, or two or more tumors occurring in one patient, regardless of the time of their occurrence (synchronic - up to 6 months, metachronous - after 6 months), coming from an organ or a tissue and not being an infiltration from another neoplasm, a relapse or a metastasis. It was the aim of the study to analyze the frequency of the occurrence of multiple neoplasms among patients suffering from uterine cervix cancer, with a special interest in coexistent neoplasms, the time of their occurrence and total 5-year survivals. The data from the Lower Silesian Cancer Registry concerning the years 1984-2009 formed the material of the present study. 5.3% of all cervix neoplasms occurred as multiple cancers. Cervix neoplasms were 13.4% of multiple neoplasms. On average, cervical cancer occurred as a subsequent cancer in 6 patients yearly (60.7% of the occurrences of cervical cancer were in the period of 5 years following treatment for the first neoplasm). 5-year survival in patients suffering from primarily multiple cervix neoplasms constituted 57% and was convergent with the results for all patients suffering from cervical cancer. Cervical cancer as the first neoplasm occurred in 287 patients, on average in 11 patients annually. In the period of the first 5 years after the treatment of cervical cancer, there were 42.8% occurrences of other cancers. Cervical neoplasms most frequently coexisted with cancers of the breast, lung and large intestine. The frequency of the occurrence of multiple neoplasm among cervical cancer patients is increasing. Most frequently they coexist with other tobacco-related neoplasms, those related to HPV infections and with secondary post-radiation neoplasms. These facts should be taken into consideration during post-treatment observation and when directing diagnostic

  9. Pancreatic cystic neoplasms: Review of current knowledge, diagnostic challenges, and management options

    Science.gov (United States)

    Jana, Tanima; Shroff, Jennifer; Bhutani, Manoop S.

    2015-01-01

    Pancreatic cystic lesions are being detected with increasing frequency, largely due to advances in cross-sectional imaging. The most common neoplasms include serous cystadenomas, mucinous cystic neoplasms, intraductal papillary mucinous neoplasms, solid pseudopapillary neoplasms, and cystic pancreatic endocrine neoplasms. Computed tomography (CT), magnetic resonance imaging (MRI), and endoscopic ultrasound (EUS) are currently used as imaging modalities. EUS-guided fine needle aspiration has proved to be a useful diagnostic tool, and enables an assessment of tumor markers, cytology, chemistries, and DNA analysis. Here, we review the current literature on pancreatic cystic neoplasms, including classification, diagnosis, treatment, and recommendations for surveillance. Data for this manuscript was acquired via searching the literature from inception to December 2014 on PubMed and Ovid MEDLINE. PMID:25821410

  10. Pediatric acute myeloid leukemia as classified using 2008 WHO criteria: a single-center experience.

    Science.gov (United States)

    Davis, Kara L; Marina, Neyssa; Arber, Daniel A; Ma, Lisa; Cherry, Athena; Dahl, Gary V; Heerema-McKenney, Amy

    2013-06-01

    The classification of acute myeloid leukemia (AML) has evolved to the most recent World Health Organization (WHO) schema, which integrates genetic, morphologic, and prognostic data into a single system. However, this system was devised using adult data and how this system applies to a pediatric cohort is unknown. Performing a retrospective chart review, we examined our single-center experience with AML in 115 children and classified their leukemia using the WHO 2008 schema. We examined patient samples for mutations of FLT3, NPM1, and CEBPA. Overall survival was calculated within categories. In our pediatric population, most cases of AML had recurrent genetic abnormalities of favorable prognosis. More than 10% of patients in our series were categorized as AML, with myelodysplasia-related changes, an entity not well-described in pediatric patients. In addition, a large proportion of patients were categorized with secondary, therapy-related AML. To our knowledge, this is the first application of the WHO 2008 classification to a pediatric cohort. In comparison to adult studies, AML in the pediatric population shows a distinct distribution within the WHO 2008 classification.

  11. Lenalidomide, Cytarabine, and Idarubicin in Treating Patients With Acute Myeloid Leukemia

    Science.gov (United States)

    2014-12-22

    Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome; Adult Acute Myeloid Leukemia With Inv(16)(p13.1q22); CBFB-MYH11; Adult Acute Myeloid Leukemia With t(16;16)(p13.1;q22); CBFB-MYH11; Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1; Adult Acute Myeloid Leukemia With t(9;11)(p22;q23); MLLT3-MLL; Adult Acute Promyelocytic Leukemia With t(15;17)(q22;q12); PML-RARA; Alkylating Agent-Related Acute Myeloid Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndrome; Untreated Adult Acute Myeloid Leukemia

  12. Chromosomal aberrations and fusion genes in myeloid malignancies.

    Science.gov (United States)

    Gianfelici, Valentina; Lahortiga, Idoya; Cools, Jan

    2012-08-01

    Since the discovery of the BCR-ABL1 fusion gene in chronic myeloid leukemia, many more fusion genes resulting from chromosomal rearrangements have been identified and characterized. The study of these fusion genes has been extremely important for our understanding of the role of chromosomal rearrangements in leukemogenesis and in oncology in general. In chronic myeloid leukemia, or related myeloproliferative malignancies caused by the expression of oncogenic fusion kinases, tyrosine kinase inhibitors are now successfully used to treat these diseases. In acute myeloid leukemias, the presence of chromosomal rearrangements, oncogenic fusion genes and point mutations in key oncogenic drivers has important prognostic value and determines the choice of therapy. In this review, the authors provide an overview of the important fusion genes present in various myeloid malignancies and their importance for clinical practice.

  13. Genetics Home Reference: core binding factor acute myeloid leukemia

    Science.gov (United States)

    ... L, Mardis ER, Wilson RK. The origin and evolution of mutations in acute myeloid leukemia. Cell. 2012 ... care or advice. Users with questions about a personal health condition should consult with a qualified healthcare ...

  14. Myeloid sarcoma of the rib: An atypical isolated chest finding

    Directory of Open Access Journals (Sweden)

    Antonio Raucci

    2015-03-01

    Systemic treatment was administered and currently neither systemic nor local relapse has been identified. Our experience suggests surgical resection could be a valid treatment in isolated myeloid sarcoma patients.

  15. Endometrial and acute myeloid leukemia cancer genomes characterized

    Science.gov (United States)

    Two studies from The Cancer Genome Atlas (TCGA) program reveal details about the genomic landscapes of acute myeloid leukemia (AML) and endometrial cancer. Both provide new insights into the molecular underpinnings of these cancers.

  16. Genome wide molecular analysis of minimally differentiated acute myeloid leukemia

    NARCIS (Netherlands)

    F.P.G. Silva (Fernando); I. Almeida (Inês); B. Morolli (Bruno); G. Brouwer-Mandema (Geeske); H. Wessels (Hans); R. Vossen (Rolf); H. Vrieling (Harry); E.W.A. Marijt (Erik); P.J.M. Valk (Peter); J.C. Kluin-Nelemans (Hanneke); W.R. Sperr (Wolfgang); W.D. Ludwig; M. Giphart-Gassler (Micheline)

    2009-01-01

    textabstractBackground: Minimally differentiated acute myeloid leukemia is heterogeneous in karyotype and is defined by immature morphological and molecular characteristics. This originally French-American-British classification is still used in the new World Health Organization classification when

  17. Genome wide molecular analysis of minimally differentiated acute myeloid leukemia

    NARCIS (Netherlands)

    Silva, Fernando P. G.; Almeida, Ines; Morolli, Bruno; Brouwer-Mandema, Geeske; Wessels, Hans; Vossen, Rolf; Vrieling, Harry; Marijt, Erik W. A.; Valk, Peter J. M.; Kluin-Nelemans, Hanneke C.; Sperr, Wolfgang R.; Ludwig, Wolf-Dieter; Giphart-Gassler, Micheline

    2009-01-01

    Background Minimally differentiated acute myeloid leukemia is heterogeneous in karyotype and is defined by immature morphological and molecular characteristics. This originally French-American-British classification is still used in the new World Health Organization classification when other

  18. Membranoproliferative glomerulonephritis secondary to chronic myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Subramanian Murali

    2010-01-01

    Full Text Available The nephrotic syndrome (NS is a well documented complication of hematological malignancies. However, chronic myeloid leukemia (CML is rarely complicated by the NS, and it occurs usually after allogenic stem cell transplantation or interferon alpha therapy for CML. The NS as a complication of untreated CML is also rare. We report a 31-year-old patient who pre-sented with features of The NS. He was diagnosed to have CML one year ago and was on irre-gular treatment with imatinib mesylate. The renal biopsy and immunofluorescence revealed mem-branoproliferative glomerulonephritis type I. The patient was retreated with imatinib mesylate and the NS resolved gradually over three months. This maybe the third case in literature of mem-branoproliferative glomerulonephritis associated with CML.

  19. Aberrant Gene Expression in Acute Myeloid Leukaemia

    DEFF Research Database (Denmark)

    Bagger, Frederik Otzen

    Summary Acute Myeloid Leukaemia (AML) is an aggressive cancer of the bone marrow, affecting formation of blood cells during haematopoiesis. This thesis presents investigation of AML using mRNA gene expression profiles (GEP) of samples extracted from the bone marrow of healthy and diseased subjects...... model to investigate the role of telomerase in AML, we were able to translate the observed effect into human AML patients and identify specific genes involved, which also predict survival patterns in AML patients. During these studies we have applied methods for investigating differentially expressed...... genes and genetic signatures and for reducing dimensionally of gene expression data. Next, we have used machine-learning methods to predict survival and to assess important predictors based on these results. General application of a number of these methods has been implemented into two public query...

  20. Pediatric acute myeloid leukemia with genetic alterations.

    Science.gov (United States)

    Shimada, Akira

    2017-01-01

    Annually, it is estimated that approximately 150-200 children aged 0-16 years are diagnosed with acute myeloid leukemia (AML). In Japan, clinical studies with ANLL91, AML99, CCLSG-AML9805, and JPLSG-AML05 protocols were performed historically, and the risk stratification with a combination of chemotherapy and hematopoietic stem cell transplantation resulted in the improvement of clinical outcomes. Regarding the onset of pediatric AML at the molecular level, mutations in FLT3-ITD or KIT (Class I mutation) showed a poor prognosis, but the ratio of mutations in Class III-V genes was smaller than that in adult AML. In contrast, several pediatric AML cases are complicated due to chromosome fragility syndrome or congenital bone marrow failure syndrome. To improve the clinical outcomes, clinical application of next generation sequencing may allow for personalized therapy in each patient in the future.

  1. New drugs in acute myeloid leukemia.

    Science.gov (United States)

    Kadia, T M; Ravandi, F; Cortes, J; Kantarjian, H

    2016-05-01

    The standard therapy for acute myeloid leukemia (AML) has not changed meaningfully for the past four decades. Improvements in supportive care and modifications to the dose and schedule of existing agents have led to steady improvements in outcomes. However, developing new therapies for AML has been challenging. Although there have been advances in understanding the biology of AML, translating this knowledge to viable treatments has been slow. Active research is currently ongoing to address this important need and several promising drug candidates are currently in the pipeline. Here, we review some of the most advanced and promising compounds that are currently in clinical trials and may have the potential to be part of our future armamentarium. These drug candidates range from cytotoxic chemotherapies, targeted small-molecule inhibitors, and monoclonal antibodies. © The Author 2016. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  2. Emerging therapies for acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Caner Saygin

    2017-04-01

    Full Text Available Abstract Acute myeloid leukemia (AML is characterized by clinical and biological heterogeneity. Despite the advances in our understanding of its pathobiology, the chemotherapy-directed management has remained largely unchanged in the past 40 years. However, various novel agents have demonstrated clinical activity, either as single agents (e.g., isocitrate dehydrogenase (IDH inhibitors, vadastuximab or in combination with standard induction/consolidation at diagnosis and with salvage regimens at relapse. The classes of agents described in this review include novel cytotoxic chemotherapies (CPX-351 and vosaroxin, epigenetic modifiers (guadecitabine, IDH inhibitors, histone deacetylase (HDAC inhibitors, bromodomain and extraterminal (BET inhibitors, FMS-like tyrosine kinase receptor 3 (FLT3 inhibitors, and antibody-drug conjugates (vadastuximab, as well as cell cycle inhibitors (volasertib, B-cell lymphoma 2 (BCL-2 inhibitors, and aminopeptidase inhibitors. These agents are actively undergoing clinical investigation alone or in combination with available chemotherapy.

  3. Aberrant Gene Expression in Acute Myeloid Leukaemia

    DEFF Research Database (Denmark)

    Bagger, Frederik Otzen

    Acute Myeloid Leukaemia (AML) is an aggressive cancer of the bone marrow, affecting formation of blood cells during haematopoiesis. This thesis presents investigation of AML using mRNA gene expression profiles (GEP) of samples extracted from the bone marrow of healthy and diseased subjects. Here......-lookup webservices, called HemaExplorer and BloodSpot. These web-services support the aim of making data and analysis of haematopoietic cells from mouse and human accessible for researchers without bioinformatics expertise. Finally, in order to aid the analysis of the very limited number of haematopoietic progenitor...... cells obtainable from bone marrow aspirations, this thesis presents a method developed to investigate transcription factor binding and histone modifications by ChIP-Seq using pico-scale amounts of DNA....

  4. Aberrant Gene Expression in Acute Myeloid Leukaemia

    DEFF Research Database (Denmark)

    Bagger, Frederik Otzen

    Summary Acute Myeloid Leukaemia (AML) is an aggressive cancer of the bone marrow, affecting formation of blood cells during haematopoiesis. This thesis presents investigation of AML using mRNA gene expression profiles (GEP) of samples extracted from the bone marrow of healthy and diseased subjects......-based gene-lookup webservices, called HemaExplorer and BloodSpot. These web-services support the aim of making data and analysis of haematopoietic cells from mouse and human accessible for researchers without bioinformatics expertise. Finally, in order to aid the analysis of the very limited number...... of haematopoietic progenitor cells obtainable from bone marrow aspirations, this thesis presents a method developed to investigate transcription factor binding and histone modifications by ChIP-Seq using pico-scale amounts of DNA....

  5. Current perspective in agnogenic myeloid metaplasia.

    Science.gov (United States)

    Tefferi, A; Silverstein, M N

    1996-09-01

    Agnogenic myeloid metaplasia (AMM) carries the worst prognosis among the chronic myeloproliferative disorders. Substantial bone marrow fibrosis, extramedullary hematopoiesis, anemia and hepatosplenomegaly are the characteristic features of the disease. AMM is currently incurable and the available treatment agents are mostly palliative and do not prolong life. Two pathogenetic processes are responsible for the impaired hematopoiesis and the clinical manifestations. The primary disease process is a clonal hematopoietic stem cell disorder which results in chronic myeloproliferation and atypical megakaryocytic hyperplasia. The secondary process of bone marrow fibrosis is the result of non-clonal fibroblastic proliferation and hyperactivity induced by growth factors abnormally shed from clonal megakaryocytes. Therefore, experimental treatment strategies may be directed towards either one or both of these disease processes. This report summarizes the current management options and new therapeutic endeavours.

  6. Current Management of Childhood Acute Myeloid Leukemia.

    Science.gov (United States)

    Rubnitz, Jeffrey E

    2017-02-01

    The outcome for children with acute myeloid leukemia (AML) has improved significantly over the past 30 years, with complete remission and overall survival rates exceeding 90 and 60%, respectively, in recent clinical trials. However, these improvements have not been achieved by the introduction of new agents. Instead, intensification of standard chemotherapy, more precise risk classification, improvements in supportive care, and the use of minimal residual disease to monitor response to therapy have all contributed to this success. Nevertheless, novel therapies are needed, as the cure rates for many subtypes of childhood AML remain unacceptably low. Here, we briefly review advances in our understanding of the biology and genetics of AML, the results of recent clinical trials, and current recommendations for the treatment of children with AML.

  7. Investigating MicroRNA Expression Profiles in Pancreatic Cystic Neoplasms.

    Science.gov (United States)

    Lee, Linda S; Szafranska-Schwarzbach, Anna E; Wylie, Dennis; Doyle, Leona A; Bellizzi, Andrew M; Kadiyala, Vivek; Suleiman, Shadeah; Banks, Peter A; Andruss, Bernard F; Conwell, Darwin L

    2014-01-30

    Current diagnostic tools for pancreatic cysts fail to reliably differentiate mucinous from nonmucinous cysts. Reliable biomarkers are needed. MicroRNAs (miRNA) may offer insights into pancreatic cysts. Our aims were to (1) identify miRNAs that distinguish benign from both premalignant cysts and malignant pancreatic lesions using formalin-fixed, paraffin-embedded (FFPE) pathology specimens; (2) identify miRNAs that distinguish mucinous cystic neoplasm (MCN) from branch duct-intraductal papillary mucinous neoplasm (BD-IPMN). A total of 69 FFPE pancreatic specimens were identified: (1) benign (20 serous cystadenoma (SCA)), (2) premalignant (10 MCN, 10 BD-IPMN, 10 main duct IPMN (MD-IPMN)), and (3) malignant (19 pancreatic ductal adenocarcinoma (PDAC)). Total nucleic acid extraction was performed followed by miRNA expression profiling of 378 miRNAs interrogated using TaqMan MicroRNA Arrays Pool A and verification of candidate miRNAs. Bioinformatics was used to generate classifiers. MiRNA profiling of 69 FFPE specimens yielded 35 differentially expressed miRNA candidates. Four different 4-miRNA panels differentiated among the lesions: one panel separated SCA from MCN, BD-IPMN, MD-IPMN, and PDAC with sensitivity 85% (62, 97), specificity 100% (93, 100), a second panel distinguished MCN from SCA, BD-IPMN, MD-IPMN, and PDAC with sensitivity and specificity 100% (100, 100), a third panel differentiated PDAC from IPMN with sensitivity 95% (76, 100) and specificity 85% (72, 96), and the final panel diagnosed MCN from BD-IPMN with sensitivity and specificity approaching 100%. MiRNA profiling of surgical pathology specimens differentiates serous cystadenoma from both premalignant pancreatic cystic neoplasms and PDAC and MCN from BD-IPMN.

  8. Complement receptors in myeloid cell adhesion and phagocytosis

    OpenAIRE

    Dustin, Michael L.

    2016-01-01

    Myeloid cells make extensive use of the complement system in the context of recruitment, phagocytosis and other effector functions. There are several types of complement receptors on myeloid cells including G-proteins coupled receptors for localizing the source of complement activation, and three sets of type I transmembrane proteins that link complement to phagocytosis-complement receptor 1, a single chain type I membrane protein with tandem complement regulatory repeats, complement receptor...

  9. Villous Tumor of the Urinary Bladder Resembling Low-grade Mucinous Neoplasm of the Appendix.

    Science.gov (United States)

    Ito, Ayako; Sakura, Yuma; Sugimoto, Mikio; Kakehi, Yoshiyuki; Kuroda, Naoto

    2016-05-01

    Mucinous neoplasms of the urinary tract are very rare. We present a 63-year-old-women who had a sessile papillary villous tumor in urinary bladder. Although transurethral resection of the bladder tumor (TURBT) was performed, the villous tumor repetitively recurred and gradually spread to the entire surface of bladder lumen. Histopathologic and immunohistochemical examination showed that the lesion was very similar to low-grade mucinous neoplasm arising in appendix vermiformis. There are no reports on appendiceal metaplasia of urinary bladder mucosa. In this case, we describe this unprecedented neoplasm as "villous tumor of the urinary bladder resembling low-grade mucinous neoplasm of the appendix."

  10. Renal cell carcinoma metastasizing to pancreatic neuroendocrine neoplasm - the second case described in the world literature.

    Science.gov (United States)

    Bednarek-Rajewska, Katarzyna; Zalewski, Przemysław; Bręborowicz, Danuta; Woźniak, Aldona

    Tumor-to-tumor metastases are very rare events. We report a case of a 64-year-old man who presented with a tumor of the pancreas. The patient underwent partial pancreatectomy. Frozen section diagnosis of the tumor was an endocrine neoplasm. Paraffin block slide examination revealed a tumor consisting of two components: pancreatic endocrine neoplasm at the periphery of the tumor and the central part composed of clear cells with delicate vessels. The results of immunohistochemical stains revealed renal cell carcinoma surrounded by pancreatic endocrine neoplasm, therefore representing an unusual case of renal cell carcinoma metastasizing to a pancreatic endocrine neoplasm.

  11. Morphological differentiation and follow-up of pancreatic cystic neoplasms using endoscopic ultrasound

    Science.gov (United States)

    Hijioka, Susumu; Hara, Kazuo; Mizuno, Nobumasa; Imaoka, Hiroshi; Bhatia, Vikram; Yamao, Kenji

    2015-01-01

    Endoscopic ultrasound (EUS) is a key modality for the evaluation of suspected pancreatic cystic neoplasms (PCNs), as the entire pancreatic gland can be demonstrated with high spatial resolution from the stomach and duodenum. Detailed information can be acquired about the internal contents of the cyst(s) [septum, capsule, mural nodules (MNs)], its relation with the main pancreatic duct (MPD), and any parenchymal changes in the underlying gland. PCNs comprise true cysts and pseudocysts. True cysts can be neoplastic or nonneoplastic. Here, we describe serous cystic neoplasm (SCN), mucinous cystic neoplasm (MCN), and intraductal papillary mucinous neoplasm (IPMN) as prototype neoplastic cysts, along with nonneoplastic lymphoepithelial cysts (LECs). PMID:26643699

  12. Incidental pancreatic cystic neoplasms in an asymptomatic healthy population of 21,745 individuals

    Science.gov (United States)

    Chang, Ye Rim; Park, Joo Kyung; Jang, Jin-Young; Kwon, Wooil; Yoon, Jeong Hee; Kim, Sun-Whe

    2016-01-01

    Abstract Although incidental pancreatic cystic neoplasms are being diagnosed with increasing frequency, little is known about the accurate prevalence of pancreatic cysts in the general population. The aims of this study were to evaluate the crude prevalence rate of pancreatic cystic neoplasms in asymptomatic healthy adults, and calculate the age- and sex-adjusted nationwide prevalence rate. A total of 21,745 asymptomatic individuals who underwent abdominal computed tomography (CT) as a health screening examination were enrolled between 2003 and 2013 at the Seoul National University Hospital Healthcare System Gangnam Center. Nationwide population data of 2010 were collected from the National Statistical Office, Korea. Incidental pancreatic cystic neoplasms were found in 457 individuals whose mean age was 58.7 years. The types of neoplasms were reviewed by 2 separate designated radiologists and the final diagnosis was made as follows: intraductal papillary mucinous neoplasm: 376 (82%), serous cystic neoplasm: 19 (4%), mucinous cystic neoplasm: 7 (2%), and indeterminate cysts: 55 (12%). Eight cases underwent operation. The crude prevalence rate was 2.1% and the age- and sex-adjusted expected nationwide prevalence was 2.2%. The prevalence increased with age. Here, we reported the first large-scale study among the healthy population to find out the prevalence rate of pancreatic cystic neoplasms; the age- and sex-adjusted prevalence was 2.2%, and increased with age. Further investigations regarding the clinical implications of incidental pancreatic neoplasms are necessary. PMID:28002329

  13. Risk factors for synchronous or metachronous tumor development after endoscopic resection of gastric neoplasms.

    Science.gov (United States)

    Lim, Joo Hyun; Kim, Sang Gyun; Choi, Jeongmin; Im, Jong Pil; Kim, Joo Sung; Jung, Hyun Chae

    2015-10-01

    Despite many advantages, the development of synchronous or metachronous neoplasm is one of the main concerns with endoscopic resection. We aimed to clarify the independent risk factors for synchronous or metachronous gastric neoplasm. We retrospectively reviewed the medical records of all patients who had undergone endoscopic resection for gastric high-grade dysplasia or early gastric cancer between April 2001 and February 2011. Among 971 subjects, 56 synchronous neoplasms and 42 metachronous neoplasms developed during 12-131 months of follow-up. In univariate analysis, age over 65 years, male gender, absence of Helicobacter pylori infection, lower third location, mucosal atrophy, and intestinal metaplasia were related to multiple gastric neoplasms. In multivariate analysis, absence of H. pylori infection [odds ratio (OR) 1.610, 95 % confidence interval (CI) 1.038-2.497)], lower third location (OR 1.704, 95 % CI 1.070-2.713), and intestinal metaplasia (OR 4.461, 95 % CI 1.382-14.401) were independent risk factors for multiple gastric neoplasms. For synchronous neoplasm, primary tumor size less than 1 cm was the only independent risk factor. For metachronous neoplasm, absence of H. pylori infection (OR 2.416, 95 % CI 1.214-4.810) was found to be the only independent risk factor. H. pylori eradication was found to be unrelated to the development of metachronous gastric neoplasms. For tumors located in the antrum and accompanied by intestinal metaplasia, meticulous endoscopic evaluation with close follow-up after endoscopic resection is recommended.

  14. Overexpression of Eg5 correlates with high grade astrocytic neoplasm.

    Science.gov (United States)

    Liu, Liqiong; Liu, Xichun; Mare, Marcus; Dumont, Aaron S; Zhang, Haitao; Yan, Dong; Xiong, Zhenggang

    2016-01-01

    To investigate the relationship between Eg5 and histopathological grade of astrocytoma, Eg5 expression was evaluated by immunohistochemical examination on 88 specimens including 25 cases of glioblastoma (WHO grade IV), 22 cases of anaplastic astrocytoma (WHO grade III), 20 cases of diffuse astrocytoma (WHO grade II), and 21 cases of pilocytic astrocytoma (WHO grade I). The histopathological characteristics and Eg5 expression level of each tumor were assessed and statistically analyzed. Astrocytic tumors exhibited significant correlation of expression of Eg5 with higher WHO histopathological grades (p neoplasm, and it may represent an independent diagnostic and prognostic factor in grading astrocytic tumors and predicting prognosis of astrocytic tumor patients.

  15. Hypothetical atopic dermatitis-myeloproliferative neoplasm (AD-MPN syndrome

    Directory of Open Access Journals (Sweden)

    Toshiaki eKawakami

    2015-08-01

    Full Text Available Atopic dermatitis (AD is a chronic inflammatory skin disease. Myeloproliferative neoplasms (MPNs are hematopoietic malignancies caused by uncontrolled proliferation of hematopoietic stem/progenitor cells. Recent studies have described several mutant mice exhibiting both AD-like skin inflammation and MPN. Common pathways for skin inflammation encompass overexpression of thymic stromal lymphopoietin and reduced signaling of epidermal growth factor receptor in the epidermis, while overproduction of granulocyte-colony stimulating factor by keratinocytes and constitutive activation of Stat5 in hematopoietic stem cells are important for the development of MPN. The murine studies suggest the existence of a similar human disease tentatively termed the AD-MPN syndrome.

  16. Small-bowel neoplasms in patients undergoing video capsule endoscopy

    DEFF Research Database (Denmark)

    Rondonotti, E; Pennazio, M; Toth, E

    2008-01-01

    BACKGROUND AND STUDY AIM: Small-bowel tumors account for 1% - 3% of all gastrointestinal neoplasms. Recent studies with video capsule endoscopy (VCE) suggest that the frequency of these tumors may be substantially higher than previously reported. The aim of the study was to evaluate the frequency...... findings. 55 patients underwent VCE as the third procedure after negative bidirectional endoscopy. The lesions were single in 89.5% of cases, and multiple in 10.5%. Retention of the capsule occurred in 9.8% of patients with small-bowel tumors. After VCE, 54/124 patients underwent 57 other examinations...

  17. Cellular schwannoma: a benign neoplasm sometimes overdiagnosed as sarcoma

    Energy Technology Data Exchange (ETDEWEB)

    Alberghini, M. [Dept. of Surgical Pathology, Rizzoli Institute, Bologna (Italy); Anatomia Patologica, Istituto Rizzoli, Bologna (Italy); Zanella, L.; Bacchini, P.; Bertoni, F. [Dept. of Surgical Pathology, Rizzoli Institute, Bologna (Italy)

    2001-06-01

    A case of cellular schwannoma originating in the left lumbar paraspinal region is described. The diagnosis was originally made on needle biopsy material. The histological examination is usually not sufficient to correctly diagnose this benign neoplasm. Bone erosion, neurological symptoms, caused by compression of the spinal roots, together with hypercellularity, pleomorphism and an occasional increase in mitotic activity, may lead to an erroneous diagnosis of malignancy. Immunohistochemistry and ultrastructural analysis are helpful in confirming the diagnosis. The recognition of this entity avoids unnecessary overtreatment of these patients. (orig.)

  18. Distinct Molecular Features of Different Macroscopic Subtypes of Colorectal Neoplasms

    Science.gov (United States)

    Konda, Kenichi; Konishi, Kazuo; Yamochi, Toshiko; Ito, Yoichi M.; Nozawa, Hisako; Tojo, Masayuki; Shinmura, Kensuke; Kogo, Mari; Katagiri, Atsushi; Kubota, Yutaro; Muramoto, Takashi; Yano, Yuichiro; Kobayashi, Yoshiya; Kihara, Toshihiro; Tagawa, Teppei; Makino, Reiko; Takimoto, Masafumi; Imawari, Michio; Yoshida, Hitoshi

    2014-01-01

    Background Colorectal adenoma develops into cancer with the accumulation of genetic and epigenetic changes. We studied the underlying molecular and clinicopathological features to better understand the heterogeneity of colorectal neoplasms (CRNs). Methods We evaluated both genetic (mutations of KRAS, BRAF, TP53, and PIK3CA, and microsatellite instability [MSI]) and epigenetic (methylation status of nine genes or sequences, including the CpG island methylator phenotype [CIMP] markers) alterations in 158 CRNs including 56 polypoid neoplasms (PNs), 25 granular type laterally spreading tumors (LST-Gs), 48 non-granular type LSTs (LST-NGs), 19 depressed neoplasms (DNs) and 10 small flat-elevated neoplasms (S-FNs) on the basis of macroscopic appearance. Results S-FNs showed few molecular changes except SFRP1 methylation. Significant differences in the frequency of KRAS mutations were observed among subtypes (68% for LST-Gs, 36% for PNs, 16% for DNs and 6% for LST-NGs) (P<0.001). By contrast, the frequency of TP53 mutation was higher in DNs than PNs or LST-Gs (32% vs. 5% or 0%, respectively) (P<0.007). We also observed significant differences in the frequency of CIMP between LST-Gs and LST-NGs or PNs (32% vs. 6% or 5%, respectively) (P<0.005). Moreover, the methylation level of LINE-1 was significantly lower in DNs or LST-Gs than in PNs (58.3% or 60.5% vs. 63.2%, P<0.05). PIK3CA mutations were detected only in LSTs. Finally, multivariate analyses showed that macroscopic morphologies were significantly associated with an increased risk of molecular changes (PN or LST-G for KRAS mutation, odds ratio [OR] 9.11; LST-NG or DN for TP53 mutation, OR 5.30; LST-G for PIK3CA mutation, OR 26.53; LST-G or DN for LINE-1 hypomethylation, OR 3.41). Conclusion We demonstrated that CRNs could be classified into five macroscopic subtypes according to clinicopathological and molecular differences, suggesting that different mechanisms are involved in the pathogenesis of colorectal

  19. Endoscopic diagnosis of leiomyosarcoma of the esophagus, a rare neoplasm.

    Science.gov (United States)

    Ravini, M; Torre, M; Zanasi, G; Vanini, M; Camozzi, M

    1998-01-01

    We report a case of leiomyosarcoma of the distal third of the esophagus in a 51-year-old woman presenting with a six-month history of severe epigastric pain, disphagia and weight loss. The diagnosis, suspected on endoscopic examination, was preoperatively acheived by biopsy and immunohistological stain. Surgical treatment was undertaken with good results. Differentiation between leiomyosarcoma and more common esophageal neoplasm may be difficult if based on radiographic and endoscopic appearance. Preoperative histological confirmation is therefore mandatory to schedule a wide surgical excision.

  20. Distinct molecular features of different macroscopic subtypes of colorectal neoplasms.

    Directory of Open Access Journals (Sweden)

    Kenichi Konda

    Full Text Available Colorectal adenoma develops into cancer with the accumulation of genetic and epigenetic changes. We studied the underlying molecular and clinicopathological features to better understand the heterogeneity of colorectal neoplasms (CRNs.We evaluated both genetic (mutations of KRAS, BRAF, TP53, and PIK3CA, and microsatellite instability [MSI] and epigenetic (methylation status of nine genes or sequences, including the CpG island methylator phenotype [CIMP] markers alterations in 158 CRNs including 56 polypoid neoplasms (PNs, 25 granular type laterally spreading tumors (LST-Gs, 48 non-granular type LSTs (LST-NGs, 19 depressed neoplasms (DNs and 10 small flat-elevated neoplasms (S-FNs on the basis of macroscopic appearance.S-FNs showed few molecular changes except SFRP1 methylation. Significant differences in the frequency of KRAS mutations were observed among subtypes (68% for LST-Gs, 36% for PNs, 16% for DNs and 6% for LST-NGs (P<0.001. By contrast, the frequency of TP53 mutation was higher in DNs than PNs or LST-Gs (32% vs. 5% or 0%, respectively (P<0.007. We also observed significant differences in the frequency of CIMP between LST-Gs and LST-NGs or PNs (32% vs. 6% or 5%, respectively (P<0.005. Moreover, the methylation level of LINE-1 was significantly lower in DNs or LST-Gs than in PNs (58.3% or 60.5% vs. 63.2%, P<0.05. PIK3CA mutations were detected only in LSTs. Finally, multivariate analyses showed that macroscopic morphologies were significantly associated with an increased risk of molecular changes (PN or LST-G for KRAS mutation, odds ratio [OR] 9.11; LST-NG or DN for TP53 mutation, OR 5.30; LST-G for PIK3CA mutation, OR 26.53; LST-G or DN for LINE-1 hypomethylation, OR 3.41.We demonstrated that CRNs could be classified into five macroscopic subtypes according to clinicopathological and molecular differences, suggesting that different mechanisms are involved in the pathogenesis of colorectal tumorigenesis.