2023 Volume 22 Issue 3 Pages 61-67
DICER1 syndrome is a genetic condition predisposed to various rare cancers, including pleuropulmonary blastoma, cystic nephroma, ovarian Sertoli–Leydig cell tumor, embryonal rhabdomyosarcoma of the cervix, and rare brain tumors. Genetic testing and surveillance for DICER1 syndrome are recommended in early childhood. Surveillance guidelines are published by study groups in the US and Europe. Cases suspected of or diagnosed as DICER1 syndrome are increasing with growing interest in cancer genomic medicine in Japan and the expanding number of tumors newly recognized as DICER1-related. Here, we provide an overview of genetic testing and surveillance for DICER1 syndrome.
