病例报告：对一名患有性腺母细胞瘤合并无性细胞瘤的46,XX女性患者，采用肿瘤和生殖系Y染色体分析指导手术治疗
Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma.
作者信息
McCuaig Jeanna M, Noor Abdul, Rosen Barry, Casper Robert F, Mitri Frederic, Colgan Terence, Kim Raymond H
机构信息
Familial Breast & Ovarian Cancer Clinic (J.M.C., R.H.K.), Princess Margaret Cancer CentreDepartments of Molecular Genetics (J.M.C.)Laboratory Medicine and Pathobiology (LMP) (A.N., T.C.), Faculty of MedicineObstetrics and Gynecology (R.F.C., F.M.), Division of Reproductive SciencesMedicine (R.H.K.), Division of Medical Oncology and Hematology, University of TorontoDepartment of Pathology and Laboratory Medicine (A.N., T.C.)Lunenfeld-Tanenbaum Research Institute (R.F.C., F.M., T.C.), Mount Sinai Hospital, Toronto, ON, CanadaWilliam Beaumont School of Medicine (B.R.), Oakland University, RochesterDivision of Gynecologic Oncology (B.R.), Beaumont Health, Royal Oak, Michigan.
出版信息
Int J Gynecol Pathol. 2017 Sep;36(5):466-470. doi: 10.1097/PGP.0000000000000349.
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.
性腺母细胞瘤是一种罕见的混合性性腺肿瘤，几乎总是在具有46, XY核型或其他形式Y染色体嵌合体的个体中发现。在表型正常的46, XX女性中诊断出性腺母细胞瘤极为罕见。在此，我们报告一名20岁的46, XX女性被诊断患有性腺母细胞瘤和无性细胞瘤。使用细胞遗传学和分子分析来鉴定外周血、性腺和肿瘤组织中Y染色体物质的存在，可以排除嵌合体，从而放心地进行保守手术治疗并保留生育能力。
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