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孕期诊断出的与种系致病变异相关的支持细胞-间质细胞瘤:治疗、监测及预防的考量

Sertoli-Leydig cell tumor associated with a germline pathogenic variant diagnosed during pregnancy: Considerations for treatment, surveillance, and prevention.

作者信息

Wang Joyce Y, Ma Kimberly K, Reiter Daniel J, Torvie Ana, Swisher Elizabeth M

机构信息

Department of Obstetrics & Gynecology, University of Washington, Seattle, WA, United States.

Department of Pathology, University of Washington, Seattle, WA, United States.

出版信息

Gynecol Oncol Rep. 2023 Jun 2;48:101215. doi: 10.1016/j.gore.2023.101215. eCollection 2023 Aug.

Abstract

•This is the first report of a germline -associated Sertoli-Leydig cell tumor (SLCT) diagnosed in pregnancy.•SLCT is linked to pathogenic variants, but little is known about management of -associated SLCT.•There is an extended risk for metachronous SLCT in patients with germline pathogenic variants who retain an ovary.•Prophylactic contralateral salpingo-oophorectomy may be offered with shared decision making to patients with inherited SLCT.•Genetic testing for should be offered to all patients with moderately or poorly differentiated SLCT.

摘要

•这是首例在孕期诊断出的与种系相关的支持-间质细胞瘤(SLCT)报告。

•SLCT与致病变异有关,但对于相关SLCT的管理知之甚少。

•保留卵巢的种系致病变异患者发生异时性SLCT的风险增加。

•对于遗传性SLCT患者,可通过共同决策提供预防性对侧输卵管卵巢切除术。

•所有中分化或低分化SLCT患者均应进行相关基因检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05b5/10275748/9b5c69db6f79/gr1.jpg

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