Hyperplastic Polyposis Syndrome Identifi ed with a BRAF Mutation

• Published in: Gut and liver Vol. 6; no. 2; pp. 280 - 283
• Main Authors: Ahn, Hyung Su, Hong, Su Jin, Kim, Hee Kyung, Yoo, Hee Yong, Kim, Hwa Jong, Ko, Bong Min, Lee, Moon Sung
• Format: Journal Article
• Language: English
• Published: 거트앤리버 소화기연관학회협의회 15.04.2012
• Subjects: 내과학
• ISSN: 1976-2283; 2005-1212
• DOI: 10.5009/gnl.2012.6.2.280

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-yearold 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. KCI Citation Count: 0