2020 Volume 20 Issue 3 Pages 124-130
DICER1 syndrome is a cancer predisposition syndrome that is associated with an increased risk of rare tumors in children, adolescents, and young adults. DICER1 was identified as an RNase III endoribonuclease in 2001 and demonstrated to be a causative gene for familial pleuropulmonary blastoma in 2009. Since then, numerous tumors have been reported as being associated with DICER1. These include ovarian sex cord–stromal tumors, cystic nephroma, cervical embryonal rhabdomyosarcoma, multinodular goiter, and several recently defined tumors. This paper provides an overview of DICER1 syndrome, including a pattern of germline and somatic pathogenic variants, an update on DICER1-associated tumors, and proposed recommendations for genetic testing and surveillance.
