Rare case of Turner syndrome patient with metastatic dysgerminoma and no Y-chromosomal material with pathogenic variants found in KIT and MTOR
CONCLUSION: Females with TS can develop metastatic dysgerminoma even in the absence of Y-chromosomal material. This questions the current understanding of Y-chromosomal material being essential for the malignant transformation of a gonadoblastoma in the dysgenetic gonad.PMID:38281483 | DOI:10.1159/000536236 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 28, 2024 Category: Genetics & Stem Cells Authors: Camilla Mains Balle Christine Gaasdal Kassentoft Jolinda Iris van Heusden Michael Knudsen Line Raaby Claus H øjbjerg Gravholt Source Type: research

Rare case of Turner syndrome patient with metastatic dysgerminoma and no Y-chromosomal material with pathogenic variants found in KIT and MTOR
CONCLUSION: Females with TS can develop metastatic dysgerminoma even in the absence of Y-chromosomal material. This questions the current understanding of Y-chromosomal material being essential for the malignant transformation of a gonadoblastoma in the dysgenetic gonad.PMID:38281483 | DOI:10.1159/000536236 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 28, 2024 Category: Genetics & Stem Cells Authors: Camilla Mains Balle Christine Gaasdal Kassentoft Jolinda Iris van Heusden Michael Knudsen Line Raaby Claus H øjbjerg Gravholt Source Type: research

Rare case of Turner syndrome patient with metastatic dysgerminoma and no Y-chromosomal material with pathogenic variants found in KIT and MTOR
CONCLUSION: Females with TS can develop metastatic dysgerminoma even in the absence of Y-chromosomal material. This questions the current understanding of Y-chromosomal material being essential for the malignant transformation of a gonadoblastoma in the dysgenetic gonad.PMID:38281483 | DOI:10.1159/000536236 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 28, 2024 Category: Genetics & Stem Cells Authors: Camilla Mains Balle Christine Gaasdal Kassentoft Jolinda Iris van Heusden Michael Knudsen Line Raaby Claus H øjbjerg Gravholt Source Type: research

Rare case of Turner syndrome patient with metastatic dysgerminoma and no Y-chromosomal material with pathogenic variants found in KIT and MTOR
CONCLUSION: Females with TS can develop metastatic dysgerminoma even in the absence of Y-chromosomal material. This questions the current understanding of Y-chromosomal material being essential for the malignant transformation of a gonadoblastoma in the dysgenetic gonad.PMID:38281483 | DOI:10.1159/000536236 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 28, 2024 Category: Genetics & Stem Cells Authors: Camilla Mains Balle Christine Gaasdal Kassentoft Jolinda Iris van Heusden Michael Knudsen Line Raaby Claus H øjbjerg Gravholt Source Type: research

Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma
We report a case of a 12-year-old female with mosaic TS and Y chromosome material who initially presented with short stature and obesity. Karyotype analysis showed a mixed cell line (45X and 46XY). Counseling about the increased risk of developing GCT and preservation of gonadal function was provided, and we decided to delay gonadectomy until the age of 12. Prophylactic bilateral gonadectomy revealed dysgerminoma associated with GB at the age of 12. Fortunately, the patient was asymptomatic, with no additional therapy required due to the early stage of the disease. The case highlights the dilemma in managing TS patients wi...
Source: International Cancer Conference Journal - January 12, 2024 Category: Cancer & Oncology Source Type: research

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma
We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carrying a double uterus, cervix, and vagina. The patient is also characterized as having Turner syndrome accompanied by 46,X, del(Xp22.33-11.23) and del(2)(q11.1-11.2). MRI exhibited a 17.0 cm × 20.0 cm × 10.5 cm solid ovarian lesion. Radical surgery and pathology revealed dysgerminoma at stage IIIc with lymphatic metastases and a KIT gene mutation identified in exon 13. Furthermore, the tumor microenvironment (TME) displayed robust expression of CD4+ T lymphocytes and PD-1, whereas the distribution ...
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research

Study of neoadjuvant chemotherapy in advanced malignant ovarian germ cell tumors at a tertiary center in western India
CONCLUSION: NACT may be a reasonable option in patients with extensive unresectable disease or in whom fertility sparing is not possible or in the poor general condition. Fertility sparing surgery can be attempted post neoadjuvant chemotherapy without adversely affecting prognosis.PMID:37921603 | DOI:10.3802/jgo.2024.35.e19 (Source: Journal of Gynecologic Oncology)
Source: Journal of Gynecologic Oncology - November 3, 2023 Category: OBGYN Authors: Abhilash Vasanth Shilpa M Patel Ruchi Arora Chetana D Parekh Pariseema Dave Bijal M Patel Priyanka Vemanamandhi Source Type: research

Seminoma and dysgerminoma: evidence for alignment of clinical trials and de-escalation of systemic chemotherapy
We present available clinical trial data supporting de-escalation of chemotherapy treatment. Finally, we propose that future trials should enrol men, women, and children to benefit all patients regardless of age or sex. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - October 25, 2023 Category: Cancer & Oncology Source Type: research

Ex-vivo oocyte retrieval for fertility preservation in an adolescent patient with recurrent ovarian dysgerminoma
To describe an ex-vivo egg retrieval performed for oocyte cryopreservation for a patient undergoing oophorectomy for recurrent dysgerminoma. (Source: Fertility and Sterility)
Source: Fertility and Sterility - October 1, 2023 Category: Reproduction Medicine Authors: Addison William Alley, Leah Cooper, Meredith Humphreys, Benjamin R. Emery, Kenneth I. Aston, Zachary Kastenberg, Holly Zhou, Katherine G. Hayes, Douglas Fair, Casey Mehrhoff, Joseph M. Letourneau, Krista Childress Source Type: research

Giant ovarian dysgerminoma in adolescent: A case report
Asian J Surg. 2023 Aug 31:S1015-9584(23)01322-2. doi: 10.1016/j.asjsur.2023.08.150. Online ahead of print.NO ABSTRACTPMID:37657981 | DOI:10.1016/j.asjsur.2023.08.150 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - September 1, 2023 Category: Surgery Authors: Shujie Liu Haiyan Zhang Source Type: research