TERT Gene Fusions Characterize a Subset of Metastatic Leydig Cell Tumors.

ABSTRACT:

Objective

Metastatic Leydig cell tumors (LCT) are rare, difficult-to-treat malignancies without known underlying molecular-genetic events. An index case of metastatic LCT showed an LDLR-TERT gene fusion upon routine genetic profiling for detection of therapeutic targets, which was then followed by an investigation into a cohort of additional LCTs.

Patients and methods

Twenty-nine LCT (27 male and 2 female patients) were profiled using next-generation sequencing and immunohistochemistry.

Results

TERT gene fusions were detected only in testicular metastatic LCTs, in 3 of 7 successfully analyzed cases (RMST:TERT, LDLR:TERT, and B4GALT5:TERT). TOP1 and CCND3 amplifications were identified in the case with a B4GALT5:TERT fusion. A TP53 mutation was detected in 1 metastatic

SUBMITTER: Kruslin B 

PROVIDER: S-EPMC9907364 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature