DICER1 syndrome

DICER1 syndrome is a rare autosomal dominant disorder predisposing individual to the development of multiple tumor types. DICER1 is considered a tumor suppressor gene that encodes the endoribonuclease protein Dicer. The first association with pleuropulmonary blastoma was discovered in 2009.

Associations

• pleuropulmonary blastoma
• cystic nephroma
• rhabdomyosarcoma
• multinodular goiter
• ovarian Sertoli-Leydig cell tumor
• differentiated thyroid carcinoma
• pineoblastoma
• Wilms tumor
• chondromesenchymal hamartoma
• pituitary blastoma