Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review

Introduction: DICER1 syndrome is a rare tumor predisposition syndrome caused by germ line DICER1 mutation, which is related to a variety of benign and malignant diseases. Our report is the first described case of these three disease phenotypes of DICER1 syndrome. The female patient with a novel germline DICER1 nonsense mutation (c.1088_1089delCTinsAA p. F363X) in exon 8 that was inherited from her mother. In addition to germline DICER1 mutation, two different hotspot somatic DICER1 mutations were detected in her ovarian tissue and goiter tissue. Our report will expand the report of DICER1 mutations in DICER1 syndrome-related diseases and provide case references for further research in the future. Conclusion: When the related disease phenotype appears in childhood, it should be considered whether it is DICER1 syndrome. Genetic testing can help diagnose DICER1 syndrome and develop related surveillance strategies. Awareness of the DICER1 syndrome may result in early recognition of these rare pediatric tumors and appropriate therapeutic management.

Automated summary

DICER1 syndrome is a rare tumor predisposition syndrome caused by germ line DICER1 mutation, related to various benign and malignant diseases. Genetic testing can aid in diagnosing DICER1 syndrome and formulating related surveillance strategies. Awareness of DICER1 syndrome may lead to early recognition of rare pediatric tumors and appropriate therapeutic management.