DICER1-related tumor predisposition

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, PPB familial tumour susceptibility syndrome, PPBFTDS, pleuro-pulmonary blastoma familial tumour susceptibility syndrome, pleuropulmonary blastoma familial tumour susceptibility syndrome, DICER1-related pleuropulmonary blastoma, DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

5 clinical trials for this condition and its sub-types.