Article
Germline APC Alterations May Predispose to Testicular Sex Cord-Stromal Tumors.
The American journal of surgical pathology - 1 Dec 2023
Siegmund Stephanie, Ricci Costantino, Kao Chia-Sui, Sangoi Ankur R, Mohanty Sambit, Fletcher Christopher D M, Colecchia Maurizio, Acosta Andres M
Abstract excerpt
Sertoli cell tumor is a type of testicular sex cord-stromal tumor (TSCST) typically driven by gain-of-function CTNNB1 variants. Recently, molecular studies have identified TSCSTs (including Sertoli cell tumors) with loss-of-function APC variants, raising the possibility that germline APC alterations may predispose to TSCSTs. In this study, we evaluated 4 TSCSTs from 4 individual patients, including 3 APC -mutant...
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