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

Abstract

Background: DICER1 tumor predisposition syndrome is characterized by an increased risk for development of pleuropulmonary blastoma, pituitary blastoma, multinodular thyroid goiter, thyroid carcinoma, sex cord stromal tumor, cystic nephroma, embryonal rhabdomyosarcoma, and tumors of the CNS, amongst others. Of this list, only pituitary blastoma is recognized as pathognomonic for the syndrome. Case report: 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.

Keywords:

• Ovary
• Sertoli-Leydig cell tumor
• DICER1 syndrome
• next generation sequencing
• sex cord stromal tumor
• germline

Acknowledgments

The findings in the manuscript were previously presented: C Hughes (2020). Bilateral Sertoli-Leydig Cell Tumors: A Pathognomonic Feature of DICER1 syndrome? SPP 2020 Fall Meeting Abstracts. Pediatric and development Pathology, 23(6), 546-581.

Disclosure statement

No potential conflict of interest was reported by the authors.

Funding

No funding was received for this manuscript.