Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation
- Authors
- Ahn, Hyung Su; Hong, Su Jin; Kim, Hee Kyung; Yoo, Hee Yong; Kim, Hwa Jong; Ko, Bong Min; Lee, Moon Sung
- Issue Date
- Apr-2012
- Publisher
- 거트앤리버 발행위원회
- Keywords
- Hyperplastic polyposis syndrome; BRAF
- Citation
- Gut and Liver, v.6, no.2, pp 280 - 283
- Pages
- 4
- Journal Title
- Gut and Liver
- Volume
- 6
- Number
- 2
- Start Page
- 280
- End Page
- 283
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/15277
- DOI
- 10.5009/gnl.2012.6.2.280
- ISSN
- 1976-2283
2005-1212
- 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. (Gut Liver 2012;6:280-283)
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Collections - College of Medicine > Department of Pathology > 1. Journal Articles
- College of Medicine > Department of Internal Medicine > 1. Journal Articles
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