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DICER1 syndrome is a rare tumor predisposition syndrome caused by germline 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.

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