/DICER1-related tumor predisposition

DICER1-related tumor predisposition

Rare Disease

MONDO:0100216

Also Known As

DICER1 syndromePPB familial tumor susceptibility syndromePPB familial tumour susceptibility syndromePPBFTDSpleuro-pulmonary blastoma familial tumor susceptibility syndromepleuro-pulmonary blastoma familial tumour susceptibility syndromepleuropulmonary blastoma familial tumor susceptibility syndromepleuropulmonary blastoma familial tumour susceptibility syndromeDICER1-related pleuropulmonary blastomaDICER1-related pleuropulmonary blastoma cancer predisposition syndrome

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.