Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation.
- Author:
Hyung Su AHN
1
;
Su Jin HONG
;
Hee Kyung KIM
;
Hee Yong YOO
;
Hwa Jong KIM
;
Bong Min KO
;
Moon Sung LEE
Author Information
1. Digestive Disease Center, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Korea. sjhong@schmc.ac.kr
- Publication Type:Case Report
- Keywords:
Hyperplastic polyposis syndrome;
BRAF
- MeSH:
Adult;
Aluminum Hydroxide;
Carbonates;
Colon;
Colorectal Neoplasms;
Female;
Humans;
Korea;
Microsatellite Instability;
Microsatellite Repeats;
Phosphotransferases;
Polyps;
Rectum;
Stomach
- From:Gut and Liver
2012;6(2):280-283
- CountryRepublic of Korea
- Language:English
-
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.
