Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation
Gut and Liver
;
: 280-283, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-19375
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fosfotransferases
/
Pólipos
/
Reto
/
Estômago
/
Carbonatos
/
Neoplasias Colorretais
/
Colo
/
Repetições de Microssatélites
/
Instabilidade de Microssatélites
/
Hidróxido de Alumínio
Limite:
Adulto
/
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Gut and Liver
Ano de publicação:
2012
Tipo de documento:
Artigo
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