DICER1-related tumor predisposition
DICER1-related tumor predisposition
Definition
Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.
Also known as DICER1 syndrome, pleuro-pulmonary blastoma familial tumour susceptibility syndrome, pleuropulmonary blastoma familial tumour susceptibility syndrome, PPB familial tumour susceptibility syndrome, PPBFTDS — per MONDO