Serrated polyposis syndrome

Abstract

Serrated polyps (SPs) are considered the precursor lesions of up to 15-30% of all colorectal carcinomas through the “serrated neoplasia pathway.” Serrated polyposis syndrome (SPS), characterized by the presence large and/or numerous serrated lesions spreading throughout the colorectum, is emerging as one of the most common colorectal cancer polyp syndromes. This condition is associated with an increased personal and familial colorectal cancer risk. Clinical management includes yearly surveillance colonoscopy and surgery. Although the majority of cases occur in patients older than 50 years old with no family history of CRC, several lines of evidence support that a proportion of SPS could be the phenotypic expression of an inherited genetic syndrome, but the genetic basis for SPS remains elusive. Recent studies provided proof of the pathogenicity of RNF43 germline mutation in a small subset of patients. Future research in SPS should be focused on understanding the phenotype and clinical management and on unraveling the pathogenesis of the syndrome.