Syndrome: What Do We Know of the Pathogenetic Mechanisms?

syndrome is a hereditary cancer predisposition syndrome, characterized by a large range of benign and malignant neoplasms. Patients with syndrome have a broad phenotype, with pleuropulmonary blastoma, Sertoli-Leydig cell tumor, cystic nephroma, cervical embryonal rhabdomyosarcoma, cystic lung lesions, and thyroid follicular nodular disease being the most prevalent manifestations. The syndrome is caused by loss-of-function germline variants in the gene, and -related tumors are characterized by second somatic hotspot variants in the RNase IIIb domain of . encodes an endoribonuclease, which is important for RNA interference. This review describes the molecular mechanism of function and the pathogenetic mechanisms of tumorigenesis. The purpose of this review is to describe the pathogenesis, genotype-phenotype correlation and tissue specificity of syndrome. We conclude that there is a lack of knowledge about the exact molecular mechanisms of function and more research is needed to determine the exact role of this altered protein in relation to pathogenesis.