Gut Liver.  2012 Apr;6(2):280-283.

Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation

• Ahn HS
• Hong SJ
• Kim HK
• Yoo HY
• Kim HJ
• Ko BM
• Lee MS

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.

Keyword

Hyperplastic polyposis syndrome; BRAF

MeSH Terms

Adult
Aluminum Hydroxide
Carbonates
Colon
Colorectal Neoplasms
Female
Humans
Korea
Microsatellite Instability
Microsatellite Repeats
Phosphotransferases
Polyps
Rectum
Stomach
Aluminum Hydroxide
Carbonates
Phosphotransferases