Hyperplastic Polyposis Syndrome Identifi ed with a BRAF Mutation

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.

Rare Isolated Duodenal Hamartomatous Polyp in an Elderly Patient

“…Both Peutz-Jeghers and Cowden syndrome have an increased risk of malignancy; for example, Peutz-Jeghers syndrome is associated with gastric cancer, while endometrial and thyroid cancers are commonly seen in Cowden syndrome [ 6 ]. Although malignant transformation is rare, there is an increased risk of colon cancer in all patients with hamartomatous polyps that are associated with hamartomatous polyposis syndrome [ 7 ]. Compared with neoplastic or hyper-plastic polyps, hamartomatous polyps are rare [ 1 ].…”

Colon Polyps and the Prevention of Colorectal Cancer

“…According to the World Health Organization (WHO), diarrhea is soft or watery defecation more than three times a day or more frequent defecation than the normal intestinal habit of a person [ 144 ]. Uncomplicated diarrhea is grade 1 and 2.…”