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https://www.readbyqxmd.com/read/29073306/-y-chromosome-in-turner-syndrome
#1
REVIEW
Aleksandra Rojek, Karolina Kwasiuk, Monika Obara-Moszyńska, Zofia Kolesińska, Marek Niedziela
Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50-60% of cases). Approximately 5-6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present. In patients with TS who have all or fragmented genetic material from chromosome Y there is a substantial risk of cancerous lesions in these dysgenetic gonads...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29069951/familial-swyer-syndrome-a-rare-genetic-entity
#2
Manilal Banoth, Ramana Reddy Naru, Mohammed Basheeruddin Inamdar, Amit Kumar Chowhan
Swyer syndrome is a pure gonadal dysgenesis associated with a 46 XY karyotype and primary amenorrhea in a phenotypic female. Individuals in this syndrome are at an increased risk for development of gonadal malignancies. Swyer syndrome (gonadal dysgenesis) running in families is rare event and few such scenarios were reported in the literature. Here we are presenting this rare entity involving three affected siblings born to a non-consanguineous couple. Index case - A 23-year-old female with primary amenorrhea is presented with a mass per abdomen...
October 26, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28969219/giving-birth-after-fertility-sparing-treatment-for-a-yolk-sac-tumour-case-report
#3
Georgios-Marios Makris, Alexandros Fotiou, Georgios Chrelias, Marco-Johannes Battista, Charalampos Chrelias
Yolk Sac Tumours (YSTs) of the ovary, also called Endodermal Sinus Tumours (ESTs), are the second most common Malignant Ovarian Germ Cell Tumours (MOGCTs), after dysgerminomas. YSTs occur primarily in children and young women. We present a case report of a 20-year-old woman who had been diagnosed with YST (tumour diameter of 29 cm). The patient underwent fertility sparing surgery and was subsequently treated with adjuvant chemotherapy (four cycles of bleomycin, etoposide and cisplatin). Two years after the diagnosis of YST, she successfully gave birth to a healthy girl (birth weight 3,500 g, Apgar score of 9-10 and a spontaneous vaginal delivery)...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28904580/extradural-spinal-metastasis-in-ovarian-mixed-germ-cell-tumor
#4
Deepashu Sachdeva, Vikas Kumar, Ravindra Kumar Saran, Arvind Kumar Srivastava
Ovarian germ cell tumors (GCTs) are rare and affect mainly young girls and women. Two histological groups are distinguished: dysgerminomas and nondysgerminomatous tumors. These tumors have initial good responses to surgery and chemotherapy in 80% cases, but >75% of patients die due to complications of disease progression. There are very few case reports of mixed GCT with extradural spine metastases. We report a rare case of a 17-year-old girl who had undergone left salpingo-oophorectomy with omental and peritoneal biopsy for ovarian GCT with extradural spinal metastasis...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28800577/case-report-use-of-tumor-and-germline-y-chromosomal-analysis-to-guide-surgical-management-in-a-46-xx-female-presenting-with-gonadoblastoma-with-dysgerminoma
#5
Jeanna M McCuaig, Abdul Noor, Barry Rosen, Robert F Casper, Frederic Mitri, Terence Colgan, Raymond H Kim
Gonadoblastomas are rare mixed gonadal tumors that are almost always found in individuals with 46, XY karyotype or some other form of Y chromosome mosaicism. It is extremely rare to diagnose gonadoblastoma in phenotypically normal 46, XX females. Herein, we present a 20-year-old 46, XX female diagnosed with gonadoblastoma and dysgerminoma. Use of cytogenetic and molecular analyses to identify the presence of Y chromosome material in peripheral blood, gonadal, and tumor tissue can exclude mosaicism to provide reassurance to undertake conservative surgical management and preserve fertility...
September 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28750644/a-retrospective-study-of-reproductive-outcomes-after-fertility-sparing-surgery-and-postoperative-adjuvant-chemotherapy-in-malignant-ovarian-germ-cell-tumors-and-sex-cord-stromal-tumors
#6
Ning Zhang, Ruifang Chen, Keqin Hua, Ying Zhang
BACKGROUND: To retrospectively investigate reproductive outcomes after fertility-sparing surgery and postoperative adjuvant chemotherapy in malignant ovarian germ cell tumors (MOGCT) and sex cord-stromal tumors (SCST). METHODS: Data from 32 MOGCT (6 dysgerminomas, 6 yolk sac tumors, 17 immature teratomas, and 3 mixed germ cell tumors) and 9 SCST (4 granulosa cell tumors and 5 sertoli-leydig cell tumors) aged from 18 to 35, treated in the Obstetrics and Gynecology Hospital of Fudan University from October 2003 to October 2013 were collected and analyzed...
July 27, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28585395/epithelial-mesenchymal-transition-markers-in-malignant-ovarian-germ-cell-tumors
#7
Olesya Solheim, Mette Førsund, Claes G Tropé, Sigrid Marie Kraggerud, Jahn M Nesland, Ben Davidson
The purpose of this study was to determine the expression and potential clinical role of epithelial-to-mesenchymal transition (EMT)-related factors in malignant ovarian germ cell tumors (MOGCT). Protein expression of E-cadherin, N-cadherin, P-cadherin, Zeb1, HMGA2, and vimentin by immunohistochemistry was analyzed in 42 MOGCT from patients treated in Norway during the period 1981-2001. Expression was analyzed for association with clinicopathologic parameters. E-cadherin (p = 0.016) and HMGA2 (p = 0.002) expression was significantly higher in immature teratomas and yolk sac tumors compared with dysgerminomas...
September 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28520571/is-omentectomy-mandatory-among-early-stage-i-ii-malignant-ovarian-germ-cell-tumor-patients-a-retrospective-study-of-223-cases
#8
Wenyan Xu, Yanfang Li
OBJECTIVE: The aim of the study was to investigate whether omentectomy (OMT) is necessary in the operation for apparently early stage malignant ovarian germ cell tumors (MOGCTs). METHODS AND MATERIALS: Searching medical records database of Sun Yat-sen University Cancer Center from January 1, 1966, to November 30, 2015, patients with MOGCTs were identified and their age, year of diagnosis, tumor grade, histologic subtype, International Federation of Gynecology and Obstetrics stage, nodal findings, gross observation of omentum, and performance of OMT were assessed...
September 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28469317/impact-of-surepath-%C3%A2-liquid-based-preparation-in-cytological-analysis-of-peritoneal-washing-in-practice-of-gynecologic-oncology
#9
Ruchita Tyagi, Nalini Gupta, Priyanka Bhagat, Shalini Gainder, Bhavna Rai, L K Dhaliwal, Arvind Rajwanshi
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...
April 2017: Journal of Cytology
https://www.readbyqxmd.com/read/28449306/malignant-ovarian-germ-cell-tumors-in-pediatric-patients-the-aieop-associazione-italiana-ematologia-oncologia-pediatrica-study
#10
M Terenziani, G Bisogno, R Boldrini, G Cecchetto, M Conte, L Boschetti, M D De Pasquale, D Biasoni, A Inserra, F Siracusa, M E Basso, F De Leonardis, D Di Pinto, F Barretta, F Spreafico, P D'Angelo
OBJECTIVE: 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. METHODS: 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...
November 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#11
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
October 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28166073/ovarian-tumors-pattern-of-histomorphological-types-a-10-years-study-in-a-tertiary-referral-center-and-review-of-literature
#12
REVIEW
A Ghosh, D Ghartimagar, S Thapa, B Sathian, R Narasimhan, O P Talwar
Background Ovarian cancer accounts for 6% of all cancers in females. Among cancers of female genital tract, the incidence of ovarian cancers ranks below only carcinoma of the cervix and the endometrium. Objective To find the frequency of different types of histomorphological types and their association with age, side and size distribution. Method This study is a hospital based retrospective study carried out in the Department of Pathology, Manipal Teaching Hospital over a time period from Jan. 2006 to Sep. 2015...
April 2016: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/28137901/complications-of-dysgerminoma-meeting-the-health-needs-of-patients-in-conflict-zones
#13
Lili Hayari, Erez Shir On, Andrei Fedorenko, Szvalb Sergio, Jamal Zidan, Evgeny Solomonov
A symptom of prolonged conflict is the destruction of infrastructure and healthcare systems. While the need for acute trauma services is obvious in conflict zones, patients with chronic diseases also require care. This report describes the clinical course of a young teenage girl with a large mid pelvic tumour originating from the left ovary and reaching the umbilicus. She presented with acute abdominal pain and underwent surgery in a healthcare facility within a conflict zone. She was then transferred to a neighbouring country for continuing care...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28030592/a-novel-missense-mutation-224g-t-r75m-in-sry-coding-region-interferes-with-nuclear-import-and-results-in-46-xy-complete-gonadal-dysgenesis
#14
Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li
SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus...
2016: PloS One
https://www.readbyqxmd.com/read/27904567/dual-malignancy-in-adolescence-a-rare-case-report-of-metachronous-papillary-carcinoma-of-thyroid-following-dysgerminoma-of-ovary
#15
Suvadip Chakrabarti, Sanjay M Desai, Dharmendra Y Mehta, Shreyas Somanath
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...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#16
Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27895375/clinical-profile-treatment-and-survival-outcomes-of-peadiatric-germ-cell-tumours-a-pakistani-perspective
#17
Irfan Ul Islam Nasir, Muhammad Ijaz Ashraf, Nouman Ahmed, Muhammad Fahd Shah, Muhammad Taqi Pirzada, Amir Ali Syed, Abid Quddus Qazi
Germ Cell Tumours (GCTs) are rare tumours. Generally 80% are benign and 20% malignant with a bimodal age distribution. The retrospective study was conducted at Shaukat Khanum Cancer Hospital, Lahore, Pakistan, and comprised all paediatric patients below 18 years of age who received treatment for histology-proven GCT from 2006 to 2014. Of the 207 patients, 98(42.3%) were males and 109(52.7%) were females. The most common GCT was yolk sac tumour in 90(43.5%) children followed by mixed GCT in 40(19.3%) and dysgerminoma in 34(16...
October 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27882234/dysgerminoma-developing-from-an-ectopic-ovary-in-a-patient-with-wagr-syndrome-a-case-report
#18
Rie Miura, Yoshihito Yokoyama, Tatsuhiko Shigeto, Masayuki Futagami, Hideki Mizunuma, Akira Kurose, Kazushi Tsuruga, Shinya Sasaki, Kiminori Terui, Etsuro Ito
WAGR syndrome is caused by an 11p13 deletion and includes Wilms' tumor, aniridia, genitourinary anomalies and mental retardation. We encountered a case of a dysgerminoma originating in an ectopic ovary in a woman with WAGR syndrome. Our patient was a 24-year-old nulliparous woman who was diagnosed with WAGR syndrome. The patient had undergone left nephrectomy for a Wilms' tumor and postoperative chemotherapy at the age of 7 months. She also had a history of glaucoma surgery in both eyes, and was followed up at the Department of Pediatrics for diabetes mellitus, hypertension, liver dysfunction and hyperuricemia...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27867855/laparoscopic-approach-for-gonadectomy-in-pediatric-patients-with-intersex-disorders
#19
REVIEW
Andres Calvo, Maria Escolino, Alessandro Settimi, Agnese Roberti, Maria Grazia Caprio, Ciro Esposito
The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques and in understanding psychosocial issues related to this condition. However, since these kinds of disorders are rare and have many anatomical variations, individual care is necessary, especially regarding surgical management. Gonadectomy is indicated in a number of intersex disorders with a Y chromosome to reduce the associated risk of cancer...
October 2016: Translational pediatrics
https://www.readbyqxmd.com/read/27862157/gonadal-tumour-risk-in-292-phenotypic-female-patients-with-disorders-of-sex-development-containing-y-chromosome-or-y-derived-sequence
#20
He Huang, Chunqing Wang, Qinjie Tian
OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed...
April 2017: Clinical Endocrinology
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