DICER1 syndrome

Last revised by Frank Gaillard on 29 Feb 2024

DICER1 syndrome is a rare autosomal dominant disorder predisposing individuals to the development of multiple tumor types.

DICER1 syndrome most commonly manifests in children, adolescents and young adults 8.

The clinical presentation will depend on the particular tumors that develop. Classically individuals with DICER1 syndrome develop pleuropulmonary blastoma, cystic nephroma and ovarian Sertoli-Leydig cell tumor, however, a wide variety of tumors have been described including:

DICER1 syndrome results from heterozygous germline loss-of-function mutation of the tumor suppressor gene DICER1 that encodes the endoribonuclease protein Dicer 1-5,8.

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