Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation.

Gut and Liver
Hyung Su AhnMoon Sung Lee

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.

References

Jan 1, 1988·Diseases of the Colon and Rectum·J M ChurchI T Jones
Feb 18, 1999·Current Biology : CB·E R Fearon, C V Dang
Aug 10, 2000·Gastroenterology·A RashidS R Hamilton
Mar 10, 2001·The Journal of Pathology·J R Jass
Dec 4, 2001·Biology of the Cell·C Peyssonnaux, A Eychène
Jun 18, 2002·Nature·Helen DaviesP Andrew Futreal
Jul 11, 2002·Cell Death and Differentiation·Manuela Baccarini
Aug 29, 2002·Nature·Harith RajagopalanVictor E Velculescu
Aug 29, 2002·Gastroenterology·Jeremy R JassBarbara A Leggett
Dec 28, 2002·The American Journal of Surgical Pathology·Emina TorlakovicJahn M Nesland
Dec 23, 2003·Carcinogenesis·Karin FransénPeter Söderkvist
Dec 30, 2003·Genes, Chromosomes & Cancer·Enric DomingoSimó Schwartz
Sep 28, 2004·The American Journal of Gastroenterology·Angel FerrándezRandall W Burt
Jan 20, 2005·Diseases of the Colon and Rectum·Neil H HymanH Blasyk
Mar 29, 2005·The American Journal of Pathology·Robyn BeachAsif Rashid
May 16, 2007·The Journal of Pathology·L G Carvajal-CarmonaI P M Tomlinson

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Citations

Jun 15, 2013·Proceedings of the National Academy of Sciences of the United States of America·Adam HumphriesTrevor A Graham
Jan 28, 2015·World Journal of Gastroenterology : WJG·Jin-Shan FengXue-Bao Zheng

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Methods Mentioned

BETA
biopsy

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