It has been previously reported that heterozygous germline DICER1 mutations correlated with a distinctive human disease syndrome involving pleuropulmonary blastoma (PPB), cystic nephroma (CN), Sertoli-Leydig cell tumor (SLCT) and others.Many published studies to do with this feild have been conducted based on rare cases, thus, this systematic review serves to bring further comprehensive information regarding the clinical and genetic characteristics of DICER1 syndrome.