A Rare Case of Serrated Polyposis Syndrome with the MSH6 and SMARCA4 variants

Abstract

Serrated polyposis syndrome (SPS) is the most common form of polyposis syndrome and has been shown to increase the risk of colorectal cancer (CRC). The genetic pathway of CRC in SPS is different from the classic adenomatous polyposis coli (APC) pathway, which accounts for 70–80% of cases of CRC. Most commonly, SPS mutations include BRAF and KRAS, with activation of the RAS-RAF-MAP kinase pathway involved in the pathogenesis of serrated lesions. We present a rare case of SPS in a 32-year-old woman with MSH6 and SMARCA4 variants, which have not previously been reported in the literature.

Attenuated adenomatous polyposis with MSH6 variation: Two case reports

“…[4] Variation of the MSH6 gene leads to dysfunction of DNA MMR and is associated with Lynch syndrome. [5] Although MSH6 variation has been reported in serrated polyposis, [6] this genetic variation has not been reported in AAP. In this study, we report 2 cases of AAP with MSH6 variation.…”