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. The disease is Monarch Disease Ontology id MONDO_0100216 (DICER1-related tumor predisposition). Also known as: DICER1 syndrome, PPB familial tumor susceptibility syndrome, PPB familial tumour susceptibility syndrome, PPBFTDS, pleuro-pulmonary blastoma familial tumor susceptibility syndrome, pleuro-pulmonary blastoma familial tumour susceptibility syndrome, pleuropulmonary blastoma familial tumor susceptibility syndrome, pleuropulmonary blastoma familial tumour susceptibility syndrome.