结直肠癌KRAS、BRAF及PIK3CA基因突变的检测及内在关系  

Detection of KRAS,BRAF and PIK3CA gene mutation s in colorectal cancer and their intrinsic relationship

作　　者：常江[1] 于跃利[2] 王颖[3] 

机构地区：[1]巴彦淖尔市医院肝胆外科,内蒙古巴彦淖尔015000 [2]包头医学院第一附属医院 [3]巴彦淖尔市医院肾内科

出　　处：《包头医学院学报》2015年第4期10-12,共3页Journal of Baotou Medical College

摘　　要：目的:检测结直肠癌组织KRAS、BRAF及PIK3CA基因突变情况,并分析其内在关系。方法:收集内蒙古巴彦淖尔市医院普外一科2011年3月至2011年8月结直肠癌手术切除标本41例,提取DNA经PCR扩增后,检测KRAS、BRAF和PIK3CA基因的突变情况,分析结直肠癌组织KRAS、BRAF及PIK3CA基因突变间的内在关系。结果:(1)15例患者的KRAS基因发生突变,突变率36.6%,5例患者的BRAF基因发生突变,突变率12.2%,7例患者的PIK3CA基因发生突变,突变率17.1%。(2)BRAF基因突变者共5例,全部为KRAS野生型的患者;PIK3CA基因突变者共7例,其中3例(42.9%)为KRAS野生型的患者,4例(57.1%)为KRAS突变型的患者;BRAF与PIK3CA基因不存在共突变。结论:(1)结直肠癌患者KRAS基因突变率较高,有必要进行常规检测。(2)KRAS野生型患者中部分患者的BRAF基因突变可能是促进结直肠癌发生发展的原因之一。PIK3CA与KRAS基因的共突变可能促进了结直肠癌发生发展。Objective：To detect the mutations of KRAS, BRAF and PIK3CA genes in colorectal cancer and to analyze the intrinsic relation-ship between the three genes.Method：41 samples of colorectal cancer were collected in the General Surgery Department of Banyannur Hospital from March 2011 to October 2011, whose DNAs were extracted and amplified by using polymerase chain reaction methods.The mutations of KRAS, BRAF and PIK3CA genes were detected and the intrinsic relationship between them were analyzed .Results：15, 5 and 7 patients were found mutations of KRAS, BRAF and PIK3CA genes respectively with the mutation rates being 36.6 %、12.2 % and 17.1 % respectively.（2） There were 5 patients with KRAS gene mutations, all of which were wild-type; there were 7 patients with PIK3CA mutations, 3 （42.9 %） of whom had wild-type KRAS and 4 （57.1%） of whom had KRAS mutation.There was no co -mutation between BRAF and PIK3CA genes. Conclusions： （1） KRAS gene mutation rate is high, so there is a need for regular inspection.（2） BRAF gene mutation in Some patients with wild-type BRAF gene may be one of the reasons for the occurrence and the development of colorectal cancers.The co-mutation of BRAF gene and PIK3CA gene may contribute to the occurrence and development of colorectal cancers.

关 键 词：结直肠肿瘤 基因 突变 

分 类 号：R735.34[医药卫生—肿瘤]