Case Report : Hyperplastic Polyposis Syndrome Identifi ed with a BRAF Mutation

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). Howe...

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Published inGut and liver Vol. 6; no. 2; pp. 280 - 283
Main Authors Hyung Su Ahn, Su Jin Hong, Hee Kyung Kim, Hee Yong Yoo, Hwa Jong Kim, Bong Min Ko, Moon Sung Lee
Format Journal Article
LanguageKorean
Published 대한간학회 30.04.2012
Subjects
BRAF
Hyperplastic polyposis syndrome
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Summary: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. (Gut Liver 2012;6:280- 283)
Bibliography:The Korean Association for the Study of the Liver
ISSN:1976-2283