Introduction: 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.
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.
Keywords: case report, DICER1 , Sertoli-Leydig cell tumor, multinodular goiter, cystic nephroma