Lee Eui Jin, Park Cheol Keun, Kim Jong-Won, Chang Dong Kyung, Kim Kyoung-Mee
Department of Pathology, School of Medicine, Samsung Medical Center, Sungkyunkwan University, Seoul, Korea.
APMIS. 2007 Aug;115(8):982-6. doi: 10.1111/j.1600-0463.2007.apm_670.x.
BRAF gene mutations in the colorectum have been associated with serrated adenomas and less frequently with hyperplastic polyps, villous adenomas, tubular adenomas, and carcinomas. Most BRAF mutations in the colon have been reported as a V600E substitution. We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264). Genetic studies on fundic gland polyps and tubular adenomas from the same patient failed to demonstrate BRAF mutation. This case is the first reported with a deletion mutation of BRAF found in the colon.
结直肠癌中的BRAF基因突变与锯齿状腺瘤相关，较少与增生性息肉、绒毛状腺瘤、管状腺瘤及癌相关。结肠中大多数BRAF突变报道为V600E替代。我们报告1例锯齿状腺瘤中存在非常罕见的BRAF缺失突变（c.1799 - 1801delTGA，p.Val600_Lys601delinsGlu）的病例；该患者患有家族性腺瘤性息肉病，伴有APC基因的胚系突变（c.3578delA，p.Gln1193ArgfsX1264）。对同一患者的胃底腺息肉和管状腺瘤进行的基因研究未发现BRAF突变。该病例是首次报道在结肠中发现BRAF缺失突变。
