Full Text Available Background. Hypercalcemia is a rare but potentially dangerous complication of pediatric cancer. Of the dysgerminoma cases reported to date, associated hypercalcemia is corrected within 2–7 days of tumor resection. Case. A 13-year-old female with an ovarian dysgerminoma was found to be hypercalcemic on presentation. Following dysgerminoma resection, moderate hypercaclemia persisted for 7 days and calcium remained mildly elevated for an additional 7 days. PTHrP was undetectable. Immunolocalization studies indicated that 1-hydroxylase was expressed in dysgerminoma tissue but 1,25(OH2D3 was not elevated. Conclusion. Persistently elevated calcium levels following tumor resection suggests that this case involves a previously undescribed mechanism. Elucidation of this mechanism may offer new insights into tumor biology and opportunities for therapeutic correction of hypercalcemia in this patient population.
Full Text Available Background: Swyer syndrome is a type of hypogonadism with 46,XY karyotype. This syndrome was named by Gerald Swyer, an endocrinologist. It leads to a female with normal internal genitalia (uterus, fallopian tubes, cervix, vagina, but instead of ovaries, they have non functional ovary (streak gonads. Also, they have absence of puberty because of gonadal digenesis. The current practice is to proceed gonadectomy once the diagnosis is made due to the fact that the risk of malignant transformation is high in dysgenetic gonad. In addition, hormonal replacement therapy after surgery is acceptable. Case Presentation: We present a case of gonadoblastom in right ovary in a Swyer syndrome who referred to the department of Gynecology Oncology at Ghaem Hospital, Mashhad University, Iran in 2015 for evaluation of abdomino-pelvic distention. She was a 18-year-old female with 46, XY karyotype and poor secondary sexual character and normal external genitalia. She suffered of abdominal pain. In palpation of the abdomen, an irregular mobile mass was detected in left lower quadrant. The ultrasound revealed uterine size approximate dimensions 3×2 cm (infantile and a 19 cm pelvic mass heterogeneous and multi-loculated in left side of the pelvic cavity with possible origin of the left ovary. In addition, in right pelvic fossa, a mass about 6 cm was detected. CT-Scan showed a pelvic mass with overall dimensions of 10 cm with vicinity to the left iliac vessels, modest amounts of ascities along with evidence of peritoneal dissemination (seeding. In laparotomy we observed massive ascities and a 20 cm solid mass in left ovary and a small mass in right ovary and involvement para aortic lymph node. Pathological report indicated as stage III of dysgerminoma in left ovary and gonadoblastom in right ovary. Conclusion: This case is presented because it could have excellent prognosis if not missed opportunities of early recognizing and furthermore adequate treatment with
Cotter, T P
A case of a 32-year-old XY genotype female is described, presenting with mediastinal and abdominal lymphadenopathy and associated with an elevated serum angiotensin I converting enzyme (SACE) level. Lymph node histology showed a malignant dysgerminoma of ovarian origin. Combined chemotherapy led to a radiological regression of the lymphadenopathy and coincided with a decrease in SACE concentration. The authors suggest that SACE may be a marker for disseminated germinoma tumours and may be useful for monitoring treatment.
Objective: To study the CT features of ovarian dysgerminoma. Methods: CT findings of 11 cases with pathologi-cally-proved dysgerminoma of ovary were retrospectively analyzed. Results: All the 11 cases were solitary. The maximum diameter of lesion was averagely 17.1 cm. The tumor presented as a solid (n = 8) or cystic-solid (n = 3) mass. After contrast medium administration, the solid component of the lesions showed prominent enhancement on CT scan. Blood vessels were found in 5 masses. Of the 11 cases with ovarian dysgerminoma, invasion of adjacent structure (n = 4), ascites (n = 6) and adenopathy in pelvic wall (n = 3) were demonstrated. Conclusion: Ovarian dysgerminoma has its CT characteristics. Associ-ated with clinic data, CT is helpful in the diagnosis and differential diagnosis of ovarian dysgerminoma.
Full Text Available Dysgerminoma accounts for only 1-3% of ovarian cancers and about 30-40% of all ovarian germ cell malignant tumors. Literature states that about 2% of nonpregnant patients with dysgerminomas present with elevated serum or urine levels of human chorionic gonadotropin (hCG. Here, we report a 34 year-old multiparous woman presenting with an abdominal lump, ascites, and abdominal pain with elevated urinary and serum hCG levels. An abdominal ultrasound showed bilateral ovarian mass. An ultrasound-guided, transabdominal fine needle aspiration revealed dysgerminoma with syncytiotrophoblastic giant cells. Bilateral oophorectomy was done and the diagnosis was confirmed on histopathology.
Full Text Available Introduction: Sawyer syndrome characterized by the presence sexual abnormality , gonadal disgenesis. The current practice is to proceed to a gonadectomy once the diagnosis due to due to the fact that the risk malignant transformation entirely in dysgenetic gonad. Case report: We present a case of Sawyer syndrome who referred to the department of gynecology oncology at Ghaem Hospital, Mashhad University, Iran in 2015 for evaluation of abdomino- pelvic distention. She was a 18-year-old female with 46, XY karyotype and poor secondary sexual characters ,she suffered of abdominal pain , multiple abdomino- pelvic mass. Surgical excision of the mass along with bilateral salpingophorectomy revealed gonadoblastoma in one gonad and dysgerminoma in the second one. After combination chemotherapy she was under fallow-up. Conclusion: This case is presented because of its could excellent prognosis if not missed opportunities in early recognizing and furthermore adequate treated with gonadectomy.
Changchien, Yi-Che; Haltrich, Irén; Micsik, Tamás; Kiss, Eszter; Fónyad, László; Papp, Gergő; Sápi, Zoltán
Gonadoblastomas are unusual neoplasias that frequently appear in the dysgenetic gonads of women with chromosome Y anomaly. We present two cases of gonadoblastoma associated with complete gonadal dysgenesis and Turner syndrome, respectively, with dysgerminoma overgrowth found in one case. We were interested in the DNA ploidy, the presence of Y chromosome DNA sequence and the status of chromosome 12p arm among the tumor cells. We performed cytophotometry to analyze the DNA content and fluorescence in situ hybridization (FISH) to identify the Y chromosome and the isochromosome 12p within the tumor cells. The cytophotometric result showed diploid DNA content in gonadoblastoma, whereas dysgerminoma revealed aneuploid DNA. The FISH result revealed Y chromosome DNA sequence within gonadoblastoma and dysgerminoma. Isochromosome 12p was identified in dysgerminoma, but not in gonadoblastoma. We conclude that gonadoblastoma and dysgerminoma have a strong association with the Y chromosome, and dysgerminoma overgrowth is due to further chromosomal aberrations, such as isochromosome 12p. Histological, immunohistocheimcal and molecular studies should render the correct diagnosis. Identifying dysgerminoma overgrowth is crucial since it is associated with adverse prognosis and requires additional therapy.
Full Text Available Dual malignancy is rare in adolescents. Dual malignancy with the second malignancy of thyroid is rare. No association has been reported between dysgerminoma of ovary and carcinoma thyroid in medical literature. Despite a thorough PubMed search (key words - Papillary carcinoma of thyroid, metachronous, dysgerminoma ovary, we were unable to find a previous reported case of metachronous papillary carcinoma of thyroid (PTC following dysgerminoma of the ovary. After surgery, the patient is being regularly followed up for recurrence/development of new primary. We report this unusual and rare case in a 17-year-old female patient.
赵涌; 李圆圆; 徐元浩
Objective: To evaluate the expression of placental alkaline phosphatase (PLAP), neuron-specific enolase (NSE), prolactin (PRL) and Wilms' tumor gene (WT1) protein in ovarian dysgerminoma and its Clinico- pathological significance. Methods: Clinicopathological data were retrospectively reviewed in a total of 31 patients with pure dysgerminoma who were treated at College Clinical Medicin, Chongqing Medical University from January 1983 to October 2002. Immunohistological staining for PLAP, NSE, PRL and WT1 was performed in all 31 tumor tissues. Results: The age of the patients ranged from 12 to 42 years old (average 25 yrs). According to the clinical staging, eighteen patients (58.1%) had stage I disease, 5 (16.1%) had stage II, 6(19.4%) had stage III, and 2 (6.4%) had stage IV disease. Of the 31 cases, the positive expression rates of PLAP, NSE, PRL and WT1 were 100% (31/31), 70.9%(22/31), 3.2%(1/31) and 12.9(4/31) respectively. There was a significant relation between NSE expression and clinical stages (P<0.05) and 5 years survival rate (P<0.05). The positive expression rate of WT1 was significantly related to histological types (P<0.05). Conclusion: Dysgerminomas in earlier stages (stage I/II) are associated with a favorable prognosis. NSE positive expression is closely related with advanced tumor stage (stage III/IV). PLAP and NSE can be considered as important markers of dysgerminoma tissues, and the tumor tissues are the main resources of serum PLAP and NSE. WT1 expression correlates with poorer differentiation of dysgerminoma. The importance of PRL in dygerminoma was not certified in this study, and remains to be defined.
O. N. Streltzova
Full Text Available This is a retrospective review of treatment results of 35 patients with dysgerminomas in the Departments of Clinical Pharmacology and Gynecology, N.N.Blokhin Russian Cancer Research Center (NNBRCRC between 1990 and 2006.Primary surgery was carried out in all patients. Twenty patients (57% underwent fertility-sparing surgery. Postoperative systemic chemotherapy was administered to 28 (80% women: аmong them 23 received platinum-based chemotherapy, 5 were treated with non- platinum combinations.At a median follow-up of 75 months the disease-free survival was 71,4% and the overall survival was 97,1%. Our data confirmed that prog- nosis of dysgerminomas is excellent if managed with standard treatment initially, this is possible, as a rule, only in specialized cancer centers.
Hoei-Hansen, Christina E; Kraggerud, Sigrid M; Abeler, Vera M
examined in situ expression of stem cell-related (NANOG, OCT-3/4, KIT, AP-2gamma) and germ cell-specific proteins (MAGE-A4, NY-ESO-1, TSPY) using a tissue microarray consisting of 60 OGCT tissue samples and eight ovarian small cell carcinoma samples. Developmental pattern of expression of NANOG, TSPY, NY...... cell progenitor. Bilateral OGCTs expressed more stem cell markers than unilateral cases. However, KIT was mutated in 5/13 unilateral dysgerminomas, whereas all bilateral dysgerminomas (n = 4) and all other histological types (n = 22) showed a wild type sequence. Furthermore, tissue from five phenotypic...... to increased survival and proliferation of undifferentiated oogonia, the other related to presence of Y chromosome material and ensuing gonadal dysgenesis in phenotypic females....
Salete Da Silva Rios
Full Text Available Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.
Full Text Available Abstract Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.
Full Text Available Introduction. Ovarian dysgerminoma is a rare malignant ovarian germ cell tumor with its peak incidence in young women. Abdominal pain, abdominal distention, and the presence of a palpable mass are common symptoms at presentation. Depending on the FIGO stage at presentation the prognosis of dysgerminomas after surgical treatment, adjuvant chemotherapy, and radiotherapy is promising. Case Presentation. A 7-year-old girl was presented at our clinic with abdominal pain in all abdominal quadrants. Later the pain localized in the region of her right ovary. CT scan revealed a massive formation which was connected to her right ovary. Conclusion. Although malignant ovarian germ cell tumours are rare in children, physicians must always consider the possibility of MOGT-occurrences. The clinical symptoms might not be specific: abdominal pain, abdominal distention, nausea, and vomiting. In order to make a correct diagnosis the patients should undergo a complete clinical examination including radiological scans. Initial management is frequently surgery, followed by adjuvant chemotherapy and radiotherapy. Although disgerminoma is malignant tumor, the prognosis is promising.
Full Text Available A clinical case of an 11-year-old bitch with unilateral ovarian dysgerminoma and pyometra is described. The owner reported purulent discharge from external genitalia, fastidious appetite and depression. Transabdominal ultrasonography of the reproductive organs showed a hypoechoic mass in the region of the left ovary (7.18 × 6.65 cm and a strongly enlarged uterine lumen full of anechoic fluid. Vaginal cytology demonstrated about 50% superficial cornfield epithelial cells and multiple neutrophils. Complete blood counts and blood biochemistry analysis indicated a significant leukocytosis and a mild anemia. Blood progesterone (3.96 ng/ml and estradiol (86 pg/ml were assayed. Median laparotomy revealed an enlarged uterus, substantially altered left ovary, of the size of a grapefruit. The right ovary was of normal size and structure. Tumor metastases in other organs were not seen. Histologically, diffusely located cancer cells resembling primitive germ cells, specific for dysgerminomas, were established. One year after the surgery, according to the owner the dog is vital, with normal appetite and without general condition abnormalities.
Jafarey, Yousuf S; Berlinski, Ric A; Hanley, Christopher S; Garner, Michael M; Kiupel, Matti
A captive-born, 13-yr-old female orange-spot freshwater stingray, (Potamotrygon motoro), presented with an acute caudodorsal swelling. Ultrasonography revealed an intracoelomic mass of mixed echogenicity containing fluid pockets. The ray was euthanatized and gross postmortem examination confirmed the presence of a fluid-filled coelomic mass in the region of the reproductive tract. The mass was identified histologically as a malignant round cell tumor of the ovary. Although immunohistochemistry for protein gene product 9.5 (PGP9.5), octamer-3/4 (OCT-3/4), and inhibin was attempted, antibodies that had been validated in mammalian species did not cross-react with stingray control tissues and did not label neoplastic cells. The final diagnosis was a presumptive dysgerminoma.
Calzas Rodríguez, Julia; Carmen Juarez Morales, María Del; Casero, Miguel Angel Racionero
With cisplatin-based chemotherapy, most patients with ovarian dysgerminoma will survive long-term. Bleomycin is an important part of ovarian germ cell tumors (OGCT) treatment, and its dose-limiting toxicity is the development of pulmonary toxicity and it is increased in patients older than 40 years. We report the case of an elderly patient with an unresectable ovarian dysgerminoma who received neoadjuvant chemotherapy and who developed fatal bleomycin pulmonary toxicity (BPT) after surgery. A monitoring of pulmonary function is not routinely recommended for detecting BPT, although together with carefully assessment for symptoms or signs suggestive of pulmonary toxicity is the best way to reduce the risk of BPT. The frequency of pulmonary events in older patients makes us to think about the possibility of either reduce the dose of bleomycin or removing it from the BEP in ovarian GCT.
Naglaa M Kamal
Full Text Available A 7-year-old female child was presented to the emergency room with acute abdominal pain and vaginal bleeding. Her assessment revealed a firm large lower abdominal mass with evidence of precocious puberty with bilaterally symmetrically enlarged breast (Tanner stage B4-P1-A1. Abdominal imaging showed a well-defined soft midline pelvi-abdominal single mass measuring 7.0 × 12.6 × 11.7 cms with no ascites. Serum tumour markers including lactate dehydrogenase (LDH, beta-subunit of human chorionic gonadotropin (B-hCG and luteinizing hormone/follicular stimulating hormone (LH/FSH were all normal. At operation, there was a huge abdominal tumour weighing 558 grams, localized to the right ovary sparing the left ovary, uterus, lymph nodes and other abdominal organs. Unilateral right salpingo-oophorectomy was performed. Histopathologic examination revealed ovarian dysgerminoma with intact capsule; FIGO Ia. Immunohistochemical stainings were positive for placental alkaline phosphatase (PALP, CD 117(c-kit and calretinin focally but was negative for cancer antigen-125 (CA-125, B-hCG, S-100, carcinoembryonic antigen (CEA, and leukocyte common antigen (LCA. Being fitting in the low risk classification, the wait and see protocol was selected with strict follow-up with pediatric oncologist and pediatric surgeon. Along the duration of 2 years follow up, there was no more vaginal bleeding with dramatic reduction of the breast size and no recurrence.
Sunil Kumar Kota
Full Text Available We report a 17-year-old girl evaluated for primary amenorrhea. Cytogenetic analysis of the peripheral blood lymphocytes revealed normal autosomes with 46X inv (Y confirming the diagnosis of Turner′s syndrome with Y cell line. Treatment was initiated with conjugated estrogen while recommending bilateral prophylactic oophorectomy to the patient. One year later the patient presented with abdominal mass, biopsy of the specimen following resection confirmed dysgerminoma originating from right ovary with no invasion or metastasis. The literature is reviewed with regard to the various pathogenetic mechanisms proposed for the development of germ cell tumors in ovary, the cytogenetic findings and recommendations to handle such scenario.
Full Text Available Abstract Background RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act in a novel regulatory relationship linking the cholesterol/lipid biosynthetic pathway with cellular growth control and has been identified in families with hereditary renal (RCC and thyroid cancers. Haploinsufficiency of TRC8 may facilitate development of clear cell-RCC in association with VHL mutations, and may increase risk for other tumor types. We report a paternally inherited balanced translocation t(8;22 in a proposita with dysgerminoma. Methods The translocation was characterized by FISH and the breakpoints cloned, sequenced, and compared. DNA isolated from normal and tumor cells was checked for abnormalities by array-CGH. Expression of genes TRC8 and TSN was tested both on dysgerminoma and in the proposita and her father. Results The breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11.21, containing the palindromic AT-rich repeat (PATRR involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24.13. TRC8 was strongly underexpressed in the dysgerminoma. Translin is underexpressed in the dysgerminoma compared to normal ovary. TRC8 is a target of Translin (TSN, a posttranscriptional regulator of genes transcribed by the transcription factor CREM-tau in postmeiotic male germ cells. Conclusion A role for TRC8 in dysgerminoma may relate to its interaction with Translin. We propose a model in which one copy of TRC8 is disrupted by a palindrome-mediated translocation followed by complete loss of expression through suppression, possibly mediated by miRNA.
Friedman, M; Browde, S; Nissenbaum, M M
Our experience with germ cell tumours of the ovary is reviewed. Over the last 10 years, 15 cases, representing 6,4% of all our referred patients with malignant ovarian tumours, have been analysed. The type of tumour, histological appearances, stage, treatment and results of treatment are presented. The tumour most commonly seen was the dysgerminoma, comprising 60% of all cases (9 patients). Multimodal treatment generally consisted of surgery and radiotherapy for dysgerminoma with the addition of chemotherapy for the non-dysgerminomas. Survival depends on the stage and histological appearances of the tumour. Patients in whom the disease is at advanced stages have a poor prognosis, irrespective of histological features. A general review of this subject is also given.
Kraggerud, Sigrid Marie; Hoei-Hansen, Christina E; Alagaratnam, Sharmini
, endocrinological influences, and pathogenesis, as is the GCT origin in patients with disorders of sex development. Integrated molecular profiles of the 3 main histological subtypes, dysgerminoma (DG), yolk sac tumor (YST), and immature teratoma (IT), are presented. DGs show genomic aberrations comparable to TGCT...
Mosbech, Christiane Hammershaimb; Svingen, Terje; Nielsen, John Erik
tumour (PDPN, GATA4). All YSTs expressed AFP and SALL4, with GATA4 present in 13/14. The majority of teratomas expressed SOX2 and PDPN, whereas SALL4 was found in 8/13 immature teratomas. Adult seminoma markers AP-2γ, OCT4, SALL4 and PDPN were all expressed in dysgerminoma. We further report a previously...
L.H.J. Looijenga (Leendert); C.A. de Gouveia Brazao; J. Kononen; A.J.M. Gillis (Ad); K.E. van Roozendaal (Kees); E.J.J. van Zoelen (Everardus); D.T. Schneider (Dominik); J.W. Oosterhuis (Wolter); R.F.A. Weber (Robert); K.P. Wolffenbuttel (Katja); E.J. Perlman; H. van Dekken (Herman); C. Bokemeyer; G. Sauter; J.A. Stoop (Hans); H.P. de Leeuw; F.U. Honecker (Friedemann)
textabstractHuman germ cell tumors (GCTs) may have variable histology and clinical behavior, depending on factors such as sex of the patient, age at clinical diagnosis, and anatomical site of the tumor. Some types of GCT, i.e., the seminomas/germinomas/dysgerminomas and embryonal c
Ovarian Dysgerminoma; Recurrent Malignant Testicular Germ Cell Tumor; Recurrent Ovarian Germ Cell Tumor; Stage II Malignant Testicular Germ Cell Tumor; Stage II Ovarian Germ Cell Tumor; Stage III Malignant Testicular Germ Cell Tumor; Stage III Ovarian Germ Cell Tumor; Testicular Seminoma
Agranat, P.; Jedynak, P.; Epardeau, B.; Mignot, L. [Hopital Foch, 92 - Suresnes (France); Extra, J.M. [Hopital Saint-Louis, 75 - Paris (France)
The authors report on the retrospective analysis of 19 patients with primary cerebral germ cell tumors which were treated between 1965 and 1993. Median age is 18 years (extremes: 16-55 years). There were 16 men and three women. The location of the primary tumor was the pineal area in six patients, suprasellar and hypothalamic area in five patients and other areas in eight patients. The histological pattern was non seminoma in six patients, dysgerminoma in eight; however no histological sample was obtained in five patients who did not have any particular characteristics (either cytological abnormalities or elevated tumor marker level). Three patients were treated by surgery only, eight patients received exclusive radiotherapy and eight patients had first line chemotherapy and further cranial irradiation. One was lost to follow up. Six of eight assessable patients with dysgerminoma are alive with non evolutive disease (NED) after 15 to 176 month of follow-up. One out of five assessable patients with non seminomatous tumor in NED (163 month of follow-up). Finally all five patients who have no histological subtyping are alive with NED at 24 to 138 months. The standard treatment of dysgerminoma is currently first line chemotherapy followed by relatively low-dose and limited irradiation; the standard treatment of non-seminomatous cerebral germ cell tumor is chemotherapy, the study of which is warranted with the aim to decrease the toxicity and to increase the efficacy. (authors). 36 refs., 7 tabs.
Mosbech, Christiane Hammershaimb; Rechnitzer, Catherine; Brok, Jesper S
is the absence of a progenitor stage, such as carcinoma in situ or gonadoblastoma, which are seen in adult/adolescent GCTs, except spermatocytic seminoma. The primordial germ cell (PGC) is the suggested origin of all GCTs, with variations in histology reflecting differentiation stage. Expression of pluripotency...... transcription factors OCT-3/4, NANOG, and AP-2γ in germinomas/seminomas/dysgerminomas is consistent with retaining a germ cell phenotype. Teratomas, in contrast, develop through a pathway of aberrant somatic differentiation of immature germ cells, and the yolk sac tumors and choriocarcinomas result from...
Full Text Available Patients with Turner syndrome (TS require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1 the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2 which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3 options for assisted reproduction in these patients and associated risks, 4 the increased risk of mortality associated with pregnancy in this population, and 5 how best to assess and monitor cardiovascular risks.
Xue, Debin; Peng, Yan; Wang, Fenghua; Allan, Robert W; Cao, Dengfeng
LIN28 is an RNA-binding protein that has been detected in testicular germ cell tumours (GCTs), but its status in ovarian GCTs is unknown. The aim was to determine the immunohistochemical profile of LIN28 in ovarian GCTs. Immunohistochemistry of LIN28 was performed in 110 primary and 11 metastatic ovarian GCTs. The percentage of tumour cells stained was scored as 0, 1+ (1-30% cells), 2+ (31-60%), 3+ (61-90%), and 4+ (>90%). To determine its specificity, we stained LIN28 in 119 non-GCTs, including 37 clear cell carcinomas. Strong 4+ LIN28 staining was seen in 4/4 (100%) gonadoblastomas, 7/7 (100%) embryonal carcinomas (ECs), and 41/41 (100%) yolk sac tumours (YSTs). Among 39 dysgerminomas, 4+ staining was seen in 37 and 3+ staining in two (strong in 37; mixed weak and strong in two). Twelve of 14 immature teratomas showed variable LIN28 staining (1+ to 4+) in the immature neuroepithelium (weak to strong staining), whereas mature teratomas, carcinoids, struma ovarii and strumal carcinoids were negative. Only 5/117 non-GCTs (1/37 clear cell carcinomas) showed weak to moderate 1-2+ staining. LIN28 is a sensitive marker for gonadoblastomas, dysgerminomas, ECs, and YSTs. LIN28 can be used to distinguish them from non-GCTs. © 2011 Blackwell Publishing Limited.
Full Text Available Background and objectives: Objective in this retrospective study is to find out the incidence of different ovarian tumors of girls up to 20 years of age observed in last ten years in North Bengal Medical College and to correlate clinical and gross findings with histopathologic findings and to compare the incidence with other studies and follow-up of patients with malignant ovarian tumors. Materials and Methods: Findings were retrieved from records of different pathological reports and clinical reports. Results: Total 151 cases of ovarian tumors were received in pathology department in which 34 cases were malignant (22.6%. Amongst malignant cases, 66% are of germ-cell origin-dysgerminoma being the commonest. Strikingly we got 9 cases of malignant surface epithelial tumor. As per follow-up records most of the dysgerminoma came in stage IA and recovered fully following chemotherapy and radiotherapy. Amongst other malignant tumors, few lost the follow-up management and others expired due to metastasis. Conclusions: Patients from hilly areas of North Bengal and low socio-economic status led to lower detection rate of ovarian tumors in early stage which are absolutely necessary for proper guidelines of management to reduce mortality.
Beaulieu Bergeron, Mélanie; Soglio, Dorothée Bouron-Dal; Maietta, Antonio; Fournet, Jean-Christophe; Blumenkrantz, Miriam; Brochu, Pierre; Lemieux, Nicole
Females with 46,XY complete gonadal dysgenesis are at significant risk of developing germ cell tumors, mostly gonadoblastomas. We present here the case of 2 half-sisters, sharing the same father, diagnosed with 46,XY complete gonadal dysgenesis. The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive choriocarcinoma within the same gonad. No SRY mutation, chromosome abnormalities, or mosaicism were detected in blood. Single nucleotide polymorphism (SNP) profiling of the choriocarcinoma revealed a complex hyperdiploid pattern with gains of 1 to 4 copies of material from several autosomes, as well as the loss of the Y chromosome and a homozygous SNP profile without copy number change for the X chromosome. Our results are in agreement with the recurrent chromosome gains and losses previously published in germ cell tumors, and the coexistence of both tumors within the same gonad suggests that choriocarcinomas may derive from gonadoblastomas.
Simpson, J L
The genetics and clinical delineation of male pseudohermaphroditism are reviewed. These disorders are categorized initially by their genetic etiology--cytogenetic, Mendelian, or teratogenic. It is especially important to distinguish cytogenetic forms, usually associated with 45,X/46,XY mosaicism, from Mendelian (genetic) forms because in the former the prevalence of gonadoblastomas or dysgerminomas is about 15--20%. Genetic forms include (1) those associated with a multiple malformation pattern, (2) those due to an error in adrenal or testicular hormonal biosynthesis, (3) complete testicular feminization, (4) incomplete testicular feminization, (5) Reifenstein syndrome, (6) pseudovaginal perineoscrotal hypospadias, and (7) agondia, and possibly other conditions. Incomplete testicular feminization and the Reifenstein syndrome may or may not represent varied expressivity of the same trait. The designation pseudovaginal perineoscrotal hypospadias is appropriate only if constellations of clinical features are present and if no metabolic abnormalities are demonstrable. Etiology and available genetic data are reviewed for each of these disorders.
Gershenson, David M; Frazier, A Lindsay
One of the most extraordinary stories in the chronicles of gynecologic cancers has been that of malignant ovarian germ cell tumors. Prior to the mid-1960s, most patients died of disease. Fifty years later, most survive. Precisely because high cure rates are achievable, the concentration over the past decade has been on minimizing toxicity and late effects. The present review focuses on five areas of interest related to the management of malignant ovarian germ cell tumors that highlight the different therapeutic strategies practiced by pediatric and gynecologic oncologists: 1) primary surgery, 2) surgery alone (surveillance) for patients with FIGO stage IA disease, 3) postoperative management of FIGO stage IC-III disease, 4) postoperative management of pure immature teratoma, and 5) postoperative management of metastatic pure dysgerminoma. All of these topics share a common overarching theme: Lessening acute morbidity and late effects of treatment.
Zelaya, Gabriela; López Marti, Jessica M; Marino, Roxana; Garcia de Dávila, Maria T; Gallego, Marta S
Ullrich-Turner syndrome (UTS) is a common chromosomal abnormality caused by partial or complete X chromosome monosomy. One half of the patients have a 45,X karyotype, whereas the remaining patients display other X chromosome anomalies. In 6% to 11% of UTS, a normal or partly deleted Y chromosome has been found. A 10% to 30% risk of developing gonadoblastoma was found in the latter patients. The aim of this study was to evaluate the prevalence of Y chromosome-derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplasms in patients with UTS. Of 217 patients studied with UTS and chromosome analysis of peripheral-blood lymphocytes, Y chromosome material was found in 20 patients. Fluorescence in situ hybridization (FISH) testing was performed to characterize the structurally abnormal Y chromosome in 13 cases. Molecular analysis of the SRY gene could only be performed in 20 patients with 45,X karyotype. Two patients had the SRY genomes. Of the 20 patients with Y chromosome-derived material, 17 underwent gonadectomy. The incidence of gonadoblastoma development in our series was 35.5%. Furthermore, 1 patient also showed a pure dysgerminoma, and another showed a mixed dysgerminoma and embryonal carcinoma. We emphasize the importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype. Finally, we propose to routinely collect a sample for storage in the tumor bank for future studies.
Looijenga, Leendert H J; Hersmus, Remko; Gillis, Ad J M; Pfundt, Rolph; Stoop, Hans J; van Gurp, Ruud J H L M; Veltman, Joris; Beverloo, H Berna; van Drunen, Ellen; van Kessel, Ad Geurts; Pera, Renee Reijo; Schneider, Dominik T; Summersgill, Brenda; Shipley, Janet; McIntyre, Alan; van der Spek, Peter; Schoenmakers, Eric; Oosterhuis, J Wolter
Spermatocytic seminomas are solid tumors found solely in the testis of predominantly elderly individuals. We investigated these tumors using a genome-wide analysis for structural and numerical chromosomal changes through conventional karyotyping, spectral karyotyping, and array comparative genomic hybridization using a 32 K genomic tiling-path resolution BAC platform (confirmed by in situ hybridization). Our panel of five spermatocytic seminomas showed a specific pattern of chromosomal imbalances, mainly numerical in nature (range, 3-24 per tumor). Gain of chromosome 9 was the only consistent anomaly, which in one case also involved amplification of the 9p21.3-pter region. Parallel chromosome level expression profiling as well as microarray expression analyses (Affymetrix U133 plus 2.0) was also done. Unsupervised cluster analysis showed that a profile containing transcriptional data on 373 genes (difference of > or = 3.0-fold) is suitable for distinguishing these tumors from seminomas/dysgerminomas. The diagnostic markers SSX2-4 and POU5F1 (OCT3/OCT4), previously identified by us, were among the top discriminatory genes, thereby validating the experimental set-up. In addition, novel discriminatory markers suitable for diagnostic purposes were identified, including Deleted in Azospermia (DAZ). Although the seminomas/dysgerminomas were characterized by expression of stem cell-specific genes (e.g., POU5F1, PROM1/CD133, and ZFP42), spermatocytic seminomas expressed multiple cancer testis antigens, including TSP50 and CTCFL (BORIS), as well as genes known to be expressed specifically during prophase meiosis I (TCFL5, CLGN, and LDHc). This is consistent with different cells of origin, the primordial germ cell and primary spermatocyte, respectively. Based on the region of amplification defined on 9p and the associated expression plus confirmatory immunohistochemistry, DMRT1 (a male-specific transcriptional regulator) was identified as a likely candidate gene for
Full Text Available Objective: To report a case of long-term disease free and successful pregnancy after fertility sparing staging surgery with adjuvant chemotherapy in a 46,Xy gonadal dysgenetic with malignant germ cell tumor.Materials and methods: A case report from a university hospital about a 19-year-old female with 46,XY karyotype ( Swyer syndrome. The patient underwent bilateral gonadectomy and staging with uterus preservation. Six course adjuvant chemotherapy with VBP (Vinblastin, Bleomycin, Cisplatin was given. The case got pregnant through IVF- embryo donation. Disease free period and successful pregnancy is reported.Results: After treatment the patient is free of the disease after 11 years follow-up. She underwent in vitro fertilization treatment with oocyte donation and gave birth to a healthy ch.Conclusion: Improved multimodality treatment, allowance for consideration of fertility options for some women with gynecologic cancers. Since major concern in women with XY gonadal dysgenesis is ovarian malignancy, even with stage II dysgerminoma hysterectomy may not be required in some cases considering the opportunity for childbearing with the use of embryo transfer.
Islam, Saleem; Yamout, Sani Z; Gosche, John R
Ovarian masses in the pediatric age group are rare, and malignancies are even less common. We reviewed our large single-center experience to determine the rate of malignancy and discuss management. We retrospectively reviewed the cases of ovarian masses in children in our institution over a 10-year period. Demographic and tumor-specific data were reviewed and analyzed, and a Student's unpaired t test was used where appropriate. A total of 49 children and adolescents with ovarian masses were found. The mean age at presentation was 13.3 years. Eight masses were malignant (16%) with malignant teratoma, dysgerminoma, and germ cell tumors found. These patients responded to chemotherapy, but there were three recurrences noted that responded to further therapy. Seventy-four per cent of the benign tumors were teratomas. The most common presentation was abdominal pain in 27 patients (55%) followed by an abdominal mass. Ultrasound and CT scans were the most common imaging studies with a mean mass size of 14.7 cm. A majority of the patients underwent a laparotomy with 12 per cent having a minimally invasive procedure. Only 37 per cent of the operations were performed by the pediatric surgeons. There were no deaths in this series after a follow up of over 6 years. Most ovarian masses in childhood are benign. Malignant lesions have favorable outcomes with chemotherapy, even with recurrent disease. Consideration for laparoscopic procedures should be given for the benign lesions.
Schultz, Kris Ann P; Sencer, Susan F; Messinger, Yoav; Neglia, Joseph P; Steiner, Marie E
Ovarian tumors are uncommon but important childhood neoplasms. We reviewed records of 67 pediatric patients presenting to three pediatric referral centers from 1980 to 2003. Thirty patients had benign tumors. Thirty-seven patients had malignant tumors: 11 immature teratomas, seven malignant mixed germ cell tumors, seven juvenile granulosa cell tumors, five dysgerminomas, two endodermal sinus tumors, two serous papillary cystadenocarcinomas, one small cell carcinoma, one anaplastic sex-cord tumor, and one undifferentiated sarcoma. More than half presented with abdominal pain. Forty-six percent had an abdominal mass at the time of presentation. Other signs and symptoms included poor appetite (15%), urinary symptoms/urinary infection (9%), menstrual changes (9%), and weight loss (6%). Precocious puberty was noted in seven patients. Torsion was seen more often in patients with benign tumors (23 vs. 8%); two patients had both torsion and acute appendicitis. The neoplasm was an incidental finding in 12 patients. Fifty-five percent of the 67 ovarian tumors presenting to our centers were malignant. Pain was the most common symptom, although presence of an abdominal mass was frequent, and other symptoms non-specific. Almost all neoplasms presented as unilateral masses and rarely were metastatic at diagnosis. Ovarian tumors must be considered in the differential diagnosis of young girls with abdominal pain, mass, or other non-specific symptoms.
Vijaya M. Babre
Full Text Available Swyer syndrome was first described by Jim Swyer in 1955. It is a form of Pure Gonadal Dysgenesis. The affected female has 46XY karyotype. A 17 year old unmarried girl came with complaints of primary amenorrhea, non development of breast. On examination she has normal built. Examination of secondary sexual characters revealed no breast development, pubic and axillary hairs were sparse. Female type of genitalia with vaginal opening. Serum FSH was 117.5 mIU/ml. Thyroid and Prolactin was in normal range. Karyotype showed genotype of 46XY. Diagnostic laparoscopy showed streak gonads, small uterus, and normal fallopian tubes. Diagnosis of Swyer syndrome was made. Patient was started on hormonal replacement therapy (HRT. In Swyer syndrome there is a mutation of SRY gene leads failure of development of testis. Mullerian duct development takes place by default. These patients can have normal sexual intercourse and can become pregnant by donor oocyte. They need to be on HRT. The risk of gonadoblastoma and dysgerminoma are very high in streak gonads so bilateral gonadectomy is advised. [Int J Reprod Contracept Obstet Gynecol 2013; 2(3.000: 485-487
Terenziani, M; Bisogno, G; Boldrini, R; Cecchetto, G; Conte, M; Boschetti, L; De Pasquale, M D; Biasoni, D; Inserra, A; Siracusa, F; Basso, M E; De Leonardis, F; Di Pinto, D; Barretta, F; Spreafico, F; D'Angelo, P
Malignant ovarian germ cell tumors (MOGCT) carry an excellent prognosis, and the treatment aims to achieve results with the least possible treatment-related morbidity. The aim of this study was to assess the outcomes of pediatric patients with MOGCT. Patients were treated according to their stage: surgery and surveillance for stage I; a modified bleomycin-etoposide-cisplatin (BEP) regimen for stages II (three cycles), III, and IV (three cycles) with surgery on residual disease. Seventy-seven patients were enrolled (median age 11.8 years), 26 with dysgerminoma (Dysg), 13 with immature teratoma and elevated serum alpha-fetoprotein levels (IT + AFP), and 38 with nondysgeminoma (Non-Dysg) staged as follows: 27 stage I, 13 stage II, 32 stage III, 5 stage IV. Among evaluable patients in stage I (5-year event-free survival [EFS] 72.1% [95% CI: 56.4-92.1%]; 5-year overall survival [OS] 100%), seven relapsed (three patients with Dysg and four patients with Non-Dysg) and were rescued with chemotherapy (plus surgery in three patients). Among the evaluable patients with stages II-IV, 48 (98%) achieved complete remission after chemotherapy ± surgery, one (IT + AFP, stage IV) had progressive disease. In the whole series (median follow-up 80 months), the 5-year OS and EFS were 98.5% (95% CI: 95.6-100%) and 84.5% (95% CI: 76.5-93.5%). We confirm the excellent outcome for MOGCT. Robust data are lacking on surgical staging, surveillance for Non-Dysg with stage I, the management of IT + AFP, and the most appropriate BEP regimen. As pediatric oncologists, we support the role of surveillance after proper surgical staging providing cases are managed by experts at specialized pediatric centers. © 2017 Wiley Periodicals, Inc.
Cass, D L; Hawkins, E; Brandt, M L; Chintagumpala, M; Bloss, R S; Milewicz, A L; Minifee, P K; Wesson, D E; Nuchtern, J G
Ovarian pathology, although rare in children, must be included in the differential diagnosis of all girls who present with abdominal pain, an abdominal mass, or precocious puberty. To improve clinical appreciation of these lesions, the authors reviewed the presentation, evaluation, and outcome of all patients with ovarian pathology surgically treated at their institution since 1985. One hundred two girls (aged 9.8 +/- 5.5 years; range, 2 days to 20 years) underwent 106 separate ovarian operations (43 salpingo-oophorectomies, 21 oophorectomies, 33 ovarian cystectomies, and 9 ovarian biopsies). Of those presenting with acute abdominal pain (n = 59), 25 (42%) had ovarian torsion (14 associated with a mature teratoma), and only 1 (2%) had a malignant tumor. In contrast, of those presenting with an abdominal mass (n = 23), 6 (26%) had malignancies. There was no age difference between those with benign disease (9.9 +/- 5.6 years; n = 96) and those with malignant tumors (8.6 +/- 3.9 years, n = 10). Nine children had 10 operations for presumed malignant tumors (3 dysgerminomas, 2 immature teratomas with foci of yolk sac tumor, 2 juvenile granulosa cell tumors, 1 yolk sac tumor, and 1 Sertoli-Leydig cell tumor). These patients all had unilateral salpingo-oophorectomy, 4 had chemotherapy, and all are now disease free at 8.4 +/- 4.1 years follow-up. Ovarian pathology remains a rare indication for surgery in girls less than 20 years of age. Because most of these lesions are benign, ovarian-preserving operations should be performed whenever feasible. Copyright 2001 by W.B. Saunders Company.
Rose Mary Rocco de Oliveira
Full Text Available Turner syndrome (TS is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X, which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%, the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR, a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.
Tyagi, Ruchita; Gupta, Nalini; Bhagat, Priyanka; Gainder, Shalini; Rai, Bhavna; Dhaliwal, L K; Rajwanshi, Arvind
Context: Peritoneal washing is performed for staging of gynecologic tumors to detect subclinical intraperitoneal metastases. Aim: The aim of the present study was to assess the impact of SurePath™ liquid-based cytology (LBC) in peritoneal washing in various gynecological malignancies. Settings and Design: An audit of peritoneal-fluid/washing (January 2012 to July 2013) was performed with corresponding gynecologic specimens. All peritoneal washings were processed using both conventional and LBC technique. Suspicious cases on cytology were reported along with gynecologic specimens. Results: There were a total of 393 peritoneal fluids. Eighty-three (21.1%) were positive for malignancy, and the corresponding histology was available in 352 (89.6%) cases. Sixty-nine positive samples had ovarian malignancies and 5 had uterine causes. There were 9 cases of peritoneal washings in which no histopathology was available. The most common cause of positive peritoneal cytology was ovarian serous carcinoma in 55/84 (65.5%) cases. Other causes included mucinous cystadenocarcinoma, dysgerminoma, squamous cell carcinoma in teratoma, yolk sac tumor, and granulosa cell tumor. Uterine causes included 2/45 (4.4%) cases of endometrioid adenocarcinoma, ¼ (25%) cases of clear cell carcinoma, ½ (50%) cases of carcinosarcoma, and ¼ (25%) cervix carcinoma. On review of positive cases (n = 83), 10 cases were identified, which had nil (n = 4) to low cellularity (cytology is papillary serous carcinoma. Endometrioid adenocarcinoma rarely leads to positive peritoneal cytology. LBC technique leads to concentration of tumor cells causing reduction in false negative cases, especially in hemorrhagic and low-cellular cases. PMID:28469317
Baron, J; Warenik-Szymankiewicz, A; Miedzianowski, J; Baron, J J
Among 67 women with pure gonadal dysgenesis, karyotype 46XY was found in 46 and karyotype 46XX in 21 (26.3% of all intersexual subjects). Karyotype 46XY was either of pure type or mosaicism 45,X/46,XY (10.9%). Primary amenorrhea, underdevelopment of mammary glands and lack or poor development of pubic hair were the main complaints of the patients. In gonadal dysgenesis 46XY mammary glands were developed in 21.8% and pubic hair in 26% suggesting the presence within the gonads of the hormonally active tumor or the state after hormonal treatment. The patients with gonadal dysgenesis 46XX had lowered levels of estrogens and elevated levels of FSH and LH. Karyotype 46XY was not associated with evident changes in hormonal levels. Estrogens were both low and normal, and FSH was elevated (21.5 + 16.6 ug/ml) or normal (3.2-5.0 ng/ml). Total testosterone values were normal or slightly elevated. Such situation can be explained by the presence in some patients of tumors secreting either estrogens or androgens. Taeniform character of gonads was observed by ultrasonography whenever the presence of gonadal tumor was excluded. Histology of specimens taken from gonads or tumors demonstrated the presence of dysgerminoma or gonadoblastoma type of malignancy in 53.1%, foci or proliferation of the Leydig cells in 31.3% and typical morphology of residual gonads without germinal cells only in 12.5%. The differentiation between pure gonadal dysgenesis 46XX and primary ovarian insufficiency is required whenever no characteristic pattern emerges from clinical, hormonal, cytogenetic or ultrasonographic examination. Diagnosis of pure gonadal dysgenesis 46XX can be finally confirmed by the absence of gonocytes in the residual gonad. Besides of removal of gonads or tumors by surgery, the treatment of patients with 46XY karyotype consists in cyclic administration of estrogens and progestagens restoring menstruation and bringing development of secondary sex attributes.
Kathrins, Martin; Kolon, Thomas F
Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible markers and treatment. The goal is to inform the members of the DSD team (urologist, endocrinologist, geneticist, psychologist) of the latest findings regarding malignancy in DSD. PubMed(®) and Google Scholar(TM) literature searches were performed of current and past peer-reviewed literature on DSD (intersex) regarding gonadal development and tumor formation/treatment. Relevant reviews and original research articles were examined, including cited references, and a synopsis of the data was generated. DSD patients are at increased risk for the development of testicular carcinoma in-situ (CIS) and germ cell tumors (GCT), including seminoma, non-seminoma, juvenile granulosa cell, gonadoblastoma, and dysgerminoma. Cancer risk factors include Y-chromosomal material and gonadal position, especially for streak gonads. The 46 XX DSD patients [congenital adrenal hyperplasia (CAH)] with no genetic Y-chromosomal material are not at higher risk of cancer. Post-pubertal complete androgen insensitivity syndrome (AIS) patients remain prone to tumor development if the testes remain in the abdomen. Estimates of the risk of GCT in partial AIS for untreated undescended testes may be as high as 50%. The cancer risk of scrotal testes in partial AIS is unknown. CIS occurs almost exclusively in patients with hypovirilization, most notably in AIS. Persistent Mullerian Duct Syndrome (PMDS) confers the usual cancer risk associated with cryptorchidism, but also a possible tumor risk of the Mullerian remnant. Several markers are under investigation for tumor evaluation in the DSD population beyond hCG and
Full Text Available Pediatric germ cell tumors (GCT are rare tumors: 80% are benign, 20% malignant (2-3% of all malignant pediatric tumors. The gonadal sites (ovary and testis account for 40% of cases. Ovarian GCTs: Represent 30% of GCTs and 70% of neoplastic ovarian masses, being the most common ovarian neoplasms in children and teenagers. Benign and immature forms (teratomas constitute about 80% of all ovarian GCTs, malignant forms represent 20% increasing during adolescence. The most common malignant entity in children is the yolk sac tumors (YST; dysgerminoma is frequent during adolescence and being bilateral in 10% of cases. Presentation is similar in malignant and benign lesions; abdominal pain (70-80% and lower abdominal mass are common symptoms. Evaluation of alpha-fetoprotein (αFP or beta subunit of human chorionic gonadotropin (βHCG is essential to address the nature of the tumors: Their elevation means presence of malignancy. Surgery includes intraoperative staging procedures and requires ovariectomy or ovarosalpingectomy for malignant lesions, but may be conservative in selected benign tumors. Since malignant GCTs are very chemosensitive, primary chemotherapy is recommended in metastatic or locally advanced tumors. Testicular GCT: Represent 10% of pediatric GCT, and about 30% of malignant GCT with two age peaks: Children <3 years may experience mature teratoma and malignant GCTs, represented almost exclusively by YST, while adolescents may also show seminomas or other mixed tumors. The main clinical feature is a painless scrotal mass. Surgery represents the cornerstone of the management of testicular GCTs, with an inguinal approach and a primary high orchidectomy for malignant tumors, while a testis-sparing surgery can be considered for benign lesions. A retroperitoneal lymph node (LN biopsy may be necessary to define the staging when the involvement of retroperitoneal LN is uncertain at imaging investigations. Conclusion: Patients with gonadal
Full Text Available Introduction: Neoplastic cells of various malignant tumours may induce formation of “vascular channels”which are not lined with endothelium. This phenomenon has been called “vasculogenic mimicry”. Objectives: To assess the frequency of vasculogenic mimicry in primary and metastatic malignant ovarianmasses in women and to compare it with microvascular density of the most vascularized parts of these tumours. Material and methods: Microvessel density (MVD and PAS-positive structures representing “vascular channels”were assessed with the use of immunohistochemistry in a group of 66 women operated on because ofmalignant ovarian tumours. CD-34 antigen staining was used for MVD assessment and PAS-positive structureswere identified with modified Schiff’s reaction. Results: Mean age of the study group was 53.9 ±11.7 years (median 53 years, range: 23 to 86 years and37 women (56.1% were postmenopausal. There were 37 primary invasive ovarian cancers, 9 cancers of borderlinemalignancy, 10 tumours were metastatic to the ovary and 3 tumours were of non-epithelial origin (two folliculomasand one dysgerminoma. No PAS-positive structures were found in benign (n = 6 or in borderline tumours.Vasculogenic mimicry was found in 47% of primary malignant cancers, 50% of metastatic masses and 100% ofnon-epithelial malignant tumours. PAS-positive channels were most frequently found in high grade (G2 and G3tumours and in advanced clinical stage cancers (FIGO stage III. Tumours with low MVD had vasculogenic channelspresent in 9 cases and absent in 7 cases. Ovarian malignant tumours with high MVD (> 39 microvessels per HPFmore frequently did not have vascular mimicry present (10 cases with PAS– and 5 cases PAS+. Interestingly, in thevicinity of spots with positive PAS reaction there were only a few CD-34 positive structures identified. Conclusion: Vasculogenic mimicry is a phenomenon that relatively frequently accompanies malignant ovarianneoplasms and can
Kodama, Michiko; Grubbs, Brendan H; Blake, Erin A; Cahoon, Sigita S; Murakami, Ryusuke; Kimura, Tadashi; Matsuo, Koji
Malignant germ cell tumors (MGCT) are a rare type of ovarian cancer with poorly understood behavior during pregnancy. This systematic review evaluated feto-maternal outcomes and management patterns of 102 ovarian MGCT-complicated pregnancies identified in PubMed/MEDLINE. Mean age was 25.8. The most common histology type was dysgerminoma (38.2%) followed by yolk sac tumor (30.4%). Abdomino-pelvic pain (35.3%) was the most common symptom. The majority were stage I disease (76.4%) with a mean tumor size of 17.9cm. Most cases had live births (77.5%) at term (56.6%). Tumor surgery without fetal conservation took place in 22 (21.6%) cases (Group 1). This group was characterized by the first trimester tumor detection and intervention, non-viable pregnancy, and frequent concurrent hysterectomy. There were 59 (57.8%) cases which underwent expectant management of pregnancy: mean delay 16.4 weeks for 46 (45.1%) cases with tumor surgery and fetal conservation (Group 2); and 7.8 weeks for 13 (12.7%) cases with tumor surgery after delivery (Group 3). The live birth rate in Groups 2 and 3 was 98.3%. There were 21 (20.6%) cases in which the tumor was incidentally found intra/postpartum (Group 4). Group 2 showed the highest 5-year overall survival rate (92.8%) followed by Group 4 (79.5%), Group 3 (71.4%), and Group 1 (56.2%, p=0.028). Group 1 had more advanced-stage disease when compared to Group 2 (proportion of stages II-IV disease, 36.4% versus 11.4%, p=0.023). In multivariate analysis, age ≤20 (p=0.032) and stages II-IV (p=0.02) remained independent prognosticators for decreased overall survival in all cases. Expectant management of pregnancy was not associated with poor survival outcome in multivariate analysis (p=0.43). In conclusion, our analysis demonstrated that timing of tumor intervention and delivery significantly impacted feto-maternal outcome of ovarian MGCT-complicated pregnancies. It is suggested that early detection and tumor intervention with expectant
Lin Wang, Xiaotian Chang, Guangying Yuan, Yan Zhao, Pengcheng Wang
Full Text Available Peptidylarginine deiminase type 4 (PADI4 converts arginine residues into citrulline. The current study focused on the expression of PADI4 in various subtypes of ovary cancers, and this study investigated the effects of estrogen on PADI4 expression in SKOV-3 cells that originated from ovary tumors. We utilized immunohistochemistry, real-time PCR and western blotting to analyze the expression of PADI4 in the tumor tissues and in the cell line that were cultured with estrodial-17β. PADI4 was detected in serious cystadenocarcinoma (n=39, positivity=100%, clear cell cancer (n=7, positivity= 100%, mucinous cystadenocarcinoma (n=6, positivity=100%, dysgerminoma (n=6, positivity=100%, squamous cell tumor (n=6, positivity=100%, sibnet-ring cell carcinoma (n=6, positivity=100%, endodermal sinus tumor (n=6, positivity=100%, germ cell tumors (n=6, positivity=100% and immature teratoma (n=6, positivity=100%. However, PADI4 was either not detected or detected at low levels in granulosa cell tumor (n=6, malignant thecoma (n=6, ovarian cystadenoma (n=5 and normal ovarian tissue (n=11. For serious cystadenocarcinoma, all of the samples with high PADI4 expression belonged to the T1 and T2 stages of pTMN, whereas all of the samples that exhibited weak or moderate PADI4 expression belonged to the T3 and T4 stages. PADI4 was evenly distributed in the cytoplasm of tumor cells of serious cystadenocarcinoma that were classified as being grade II and III by histopathological scoring. However, PADI4 showed granular cellular distribution in the tumor tissues that were isolated from grade I cystadenocarcinoma. In addition, the PADI4 level was positively related with the ages of the patients that presented with serious adenocarcinoma (p=0.029. Real-time PCR and western blot analyses confirmed that PADI4 was expressed at higher levels in ovarian adenocarcinoma (n=8 compared to ovarian cystadenoma (n=5 (p< 0.05. The study also detected an increased level of PADI4 in SKOV-3
陈新妹; 周冠同; 李国霞
目的 分析了解青少年卵巢肿瘤的临床病理特点、诊断及鉴别诊断的价值.方法 搜集1998年6月至2008年6月间我院住院的青少年144例患者进行回顾性临床病理分析.结果 交界性黏液性囊肿瘤24例占16.7%(24/144),黏液性囊腺瘤16例占11.1%(16/144),黏液性囊腺癌8例占5.6%(8/144),成熟性畸胎瘤60例占41.7%(60/144),未成熟性畸胎瘤24例占16.7%(24/144),无性细胞瘤12例占8.3%(12/144).结论 青少年卵巢瘤与成年人相比有其特殊性及复杂性,治疗以手术为主,并尽量保留性腺功能及生育功能,为患者提供准确的疾病诊断及恰当的治疗,做好患者的紧密随访.%Objective To understand and analyse the clinical pathologic features, diagnosis and differential diagnosis of teenagers with ovarian tumors. Methods To collect from June 1998 to June 2008 inter-hospital stay of 144 cases of young patients with a retrospective analysis of clinical pathology. Results 24 cases were borderline mutinous cystic tumors , and accounted for 16.7% (24/144), 16 cases of mucinous cystadenoma and accounted for 11.1% (16/144), 8 cases were mutinous cystadenocarcinoma , and acounted for 5.6% (8 / 144), Mature teratoma in 60 cases accounted for 41.7% (60/144), immature teratoma in 24 cases accounted for 16. 7% (24/144), 12 cases of dysgerminoma accounted for 8.3% (12/144). Conclusions Young adults with ovarian tumors compared to its uniqueness and complexity of treatment with surgery, and as far as possible to retain gonadal function and reproductive functions, in order to provide patients with accurate diagnosis and appropriate treatment, patients shuld do well in following up closely.
Full Text Available BACKGROUND: The aim of this study was to identify a biomarker useful in the diagnosis and therapy of ovarian malignant germ cell tumor (OMGCT. METHODS: The karyopherin 2 (KPNA2 expression in OMGCT and normal ovarian tissue was determined by standard gene microarray assays, and further validated by a quantitative RT-PCR and immunohistochemistry. The correlation between KPNA2 expression in OMGCT and certain clinicopathological features were analyzed. Expression of SALL4, a stem cell marker, was also examined in comparison with KPNA2. RESULTS: KPNA2 was found to be over-expressed by approximately eight-fold in yolk sac tumors and immature teratomas compared to normal ovarian tissue by microarray assays. Overexpression was detected in yolk sac tumors, immature teratomas, dysgerminomas, embryonal carcinomas, mature teratomas with malignant transformation and mixed ovarian germ cell tumors at both the transcription and translation levels. A positive correlation between KPNA2 and SALL4 expression at both the transcription level (R = 0.5120, P = 0.0125, and the translation level (R = 0.6636, P<0.0001, was presented. Extensive expression of KPNA2 was positively associated with pathologic type, recurrence and uncontrolled, ascitic fluid presence, suboptimal cytoreductive surgery necessity, resistance/refraction to initial chemotherapy, HCG level and SALL4 level in OMGCT patients. KPNA2 was found to be an independent factor for 5-year disease-free survival (DFS of OMGCT (P = 0.02. The 5-year overall survival (OS and DFS rate for KPNA2-low expression patients (88% and 79%, n = 48 were significantly higher than the OS and DFS rate for KPNA2-high expression patients (69% and 57.1%, n = 42(P = 0.0151, P = 0.0109, respectively. The 5-year OS and DFS rate for SALL4-low expression patients (84% and 74%, n = 62 was marginally significantly higher than the high expression patients (78.6% and 71.4%, n = 28(P = 0.0519, P = 0.0647, respectively. CONCLUSIONS: KPNA2 is
Young, Robert H
later in that century, another German, Hermann Johannes Pfannenstiel wrote important papers on the surface epithelial tumors. The latter was likely the first to refer to neoplasms now known as of 'borderline malignancy' and also wrote on pseudomyxoma peritonei and other topics. Their work was followed by that of Robert Meyer who made monumental contributions to gynecological pathology, including recognizing the Brenner tumor as a distinctive neoplasm and proposing the first classification of Sertoli-Leydig cell tumors (arrhenoblastomas). He also coined the term 'disgerminoma' (soon changed to dysgerminoma) for the ovarian tumor that had been described in detail by the French investigator Marcel Chenot 5 years after Chevassu had mentioned the tumor in his paper describing the seminoma. During the Meyer era other significant contributions were made by, among others, Howard C Taylor writing on the borderline tumors and John A Sampson writing on endometriosis and tumors, associated with it. In the second-half of the 20th century major contributions were made by Gunnar Teilum of Denmark and Lars Santesson of Sweden. Dr Teilum delineated the morphologic features of the yolk sac tumor and noted the resemblance of papillary formations within it to the endodermal sinuses of the rat placenta. He also wrote extensively on sex cord tumors in both gonads. At a FIGO meeting in 1961 Dr Santesson played a major role in formulating the first organized classification of the surface epithelial-stromal tumors of the ovary and also promoted the endometrioid carcinoma as a special variant of ovarian cancer. In a career spanning over 50 years, Dr Scully was the architect of the modern classification of ovarian tumors being the driving force behind the influential 1973 World Health Organization classification of them. His many original observations have touched upon virtually all categories of ovarian tumor pathology. His second series fascicle 'Tumors of the Ovaries and Maldeveloped Gonads
Turner syndrome is a risk factor for the development of gonadoblastoma, especially if it is present in the karyotype of patients in mosaic and / or as hidden sequences. In the literature, controversial results have been found in epidemiological studies of cancer, in cases with gonadoblastoma or other ovarian malignancies in Turner syndrome. In addition, some women have Y sequences in mosaicism but do not develop gonadal tumors. A population of 282 Argentinean patients with Turner syndrome was evaluated for the presence of hidden Y chromosome material (mosaicism by PCR and in 8 of these patients (2.83 % with Y chromosome sequences, gonadoblastoma was found after removal of the gonad. In the literature, hidden Y chromosome material (mosaics is often high in Turner syndrome, but the appearance of gonadoblastoma among patients with these sequences appears to be low. It is important to note that SRY gene sequences could only be studied as a marker of mosaicism in patients with Turner syndrome, because the locus for gonadoblastoma / dysgerminoma, probably is near the centromere far away from SRY gene. Recent publications suggest that the actual risk assessment of gonadal tumor development in patients with TS with Y-derived sequences in their chromosome constitution may require a specific histopathology, such as OCT4 immunohistochemistry. Therefore, it is clear that the removal of the gonads is still an important tool for prevention in patients with Turner syndrome, when Y chromosome sequences are found. No financial conflicts of interest exist.