DICER1-Related Tumor Predisposition Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited tumor predisposition syndrome caused by germline mutations of the DICER1 gene. Carriers are at an increased risk of developing benign and malignant neoplasms, including pleuropulmonary blastoma, childhood cystic nephroma, goiter, thyroid carcinoma, pineoblastoma, DICER1-mutant ovarian Sertoli-Leydig cell tumor, embryonal tumor with multilayered rosettes, and primary intracranial sarcoma, DICER1-mutant.

**Synonyms:** - DICER1 Syndrome - DICER1 Syndrome - DICER1 Syndrome