title: Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation.
abstract: Hyperplastic polyposis syndrome (HPS) is a rare condition characterized by the presence of numerous hyperplastic polyps (HPs) in the colon and rectum. Patients with HPS have an increased risk of colorectal cancer. This link is associated with gene mutations, especially B type Raf kinase (BRAF). However, a case of HPS associated with gene mutations has seldom been reported in Korea. Here, we describe a case of HPS in which a BRAF mutation was present in a 34-year-old woman. She had more than 110 HPs in the stomach and colorectum, which we removed. All of the polyps were diagnosed histologically as HPs, and no adenomatous or malignant changes were noted. We performed a BRAF and K-ras mutation analysis as well as a microsatellite analysis on the resected colon polyps. BRAF mutations were found in the resected colon polyps, but there was no evidence of K-RAS mutation or microsatellite instability.
authors.affiliation: Digestive Disease Center, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Korea.
authors.forename: Hyung Su
authors.initials: HS
authors.lastname: Ahn
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Hong
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Kim
authors.forename: Hee Yong
authors.initials: HY
authors.lastname: Yoo
authors.forename: Hwa Jong
authors.initials: HJ
authors.lastname: Kim
authors.forename: Bong Min
authors.initials: BM
authors.lastname: Ko
authors.forename: Moon Sung
authors.initials: MS
authors.lastname: Lee