Bilateral Ovarian Sertoli-Leydig Cell Tumors Harboring < em > DICER1 < /em > Germline and Distinct Somatic Mutations: Case Report and Literature Review

We describe a 15-year-old female with bilateral, asynchronous Sertoli-Leydig cell tumors (SLCT). Both tumors harbored an identical germline frameshift mutation as well as unique somatic DICER1 hot-spot point mutations. Discussion: A review of bilateral SLCTs demonstrates that all patients with available DICER1 mutation status carried a germline DICER1 mutation (100%, 9 of 9). In cases with known somatic DICER1 status on bilateral tumors, all harbored distinct somatic mutations (100%, 5 of 5). Our findings support the notion that bilateral ovarian SLCTs are indeed separate events and do not represent recurrent or metastatic disease.PMID:36121434 | DOI:10.1080/15513815.2022.2120787
Source: Fetal and Pediatric Pathology - Category: Pathology Authors: Source Type: research