Germline pathogenic variants in DICER1 cause a tumour predisposition syndrome (OMIM 601200), which is characterized by occurrence of pleuropulmonary blastoma, Sertoli-Leydig cell tumour, cystic nephroma, multinodular goiter, embryonic rhabdomyosarcoma of the cervix uteri and other tumour types [1]. The gene discussed is DICER1; the disease is pleuropulmonary blastoma.