Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome

Sertoli-Leydig cell tumor (SLCT) is a rare mixed sex cord-stromal tumor comprising less than 0.5% of all ovarian cancers [1]. Somatic DICER1 hotspot variants in the RNase IIIb domain are identified in nearly all moderately and poorly differentiated SLCT [2 –4]. The development of bilateral SLCT is extremely rare [1,3], typically seen as metachronous tumors arising 2 to 6 years apart in patients with DICER1 syndrome caused by germline pathogenic loss-of-function DICER1 variants [5]. In prior reports, bilateral SLCT tumors in four patients have been r eported to be independent primary tumors [5,6].

Source: Cancer Genetics and Cytogenetics - January 5, 2022 Category: Genetics & Stem Cells Authors: Annie Garcia, Lauren Desrosiers, Sarah Scollon, Stephanie Gruner, Jacquelyn Reuther, Ilavarasi Gandhi, Ninad Patil, Maren Y. Fuller, Hongzheng Dai, Donna Muzny, Richard A. Gibbs, Jennifer L. Bercaw-Pratt, Seema L. Rao, Nino Rainusso, Kevin E. Fisher, Fran Source Type: research