结直肠癌患者应用ARMS法检测KRAS、NRAS、PIK3CA、BRAF基因突变分析  

KRAS,NRAS,PIK3CA and BRAF gene mutations in patients with colorectal cancer using ARMS

作　　者：张莹[1] 王哲[1] 杨向红[1] ZHANG Ying;WANG Zhe;YANG Xiang-hong(Department of Pathology,Shengjing Hospital of China Medical University,Shenyang 110004,China)

机构地区：[1]中国医科大学附属盛京医院病理科

出　　处：《诊断病理学杂志》2019年第8期506-511,共6页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨结直肠癌(CRC)患者应用扩增阻碍突变系统(Amplification Refractory Mutation System,ARMS)法检测KRAS、NRAS、PIK3CA及BRAF基因突变情况并分析其与临床病理特征的关系。方法收集中国医科大学附属盛京医院60例结直肠癌患者手术切除组织,采用ARMS法检测KRAS、NRAS、PIK3CA及BRAF基因突变情况。结果KRAS基因突变23例,突变率为38.3%;NRAS基因突变1例,突变率为1.7%;PIK3CA基因突变4例,突变率为6.7%;BRAF基因突变3例,突变率为5%。检出双突变2例,分别为PIK3CA与KRAS突变,PIK3CA与BRAF突变。有淋巴结转移患者KRAS基因突变率显著高于无淋巴结转移患者(P=0.031)。KRAS、NRAS、PIK3CA、BRAF基因突变之间无明显相关性。结论在结直肠癌患者中,KRAS基因突变率最高,且多发生于有淋巴结转移患者,NRAS、PIK3CA、BRAF基因突变率较低。对结直肠癌患者进行KRAS、NRAS、PIK3CA、BRAF基因联合检测,为临床个体化靶向治疗提供更准确的理论依据。Objective To investigate the mutations of KRAS,NRAS,PIK3CA and BRAF genes in colorectal cancer using amplification refractory mutation system ( ARMS) and to analyze the relationship of KRAS,NRAS,PIK3CA,BRAF mutations with clinicopathological features.Methods The 60 patients with colorectal cancer surgical excision from the Shengjing Hospital of China Medical University were collected.The mutations of KRAS,NRAS,PIK3CA and BRAF genes were detected using ARMS.Results KRAS gene mutations were found in 23 cases and the mutation rate was 38.3%;NRAS gene mutations were found in 1 case and the mutation rate was 1.7%;PIK3CA gene mutations were found in 4 cases and the mutation rate was 6.7%;BRAF gene mutations were found in 3 cases and the mutation rate was 5%.2 cases of double mutation were detected,PIK3CA and KRAS,PIK3CA and BRAF respectively.KRAS mutation rate in patients with lymph node metastasis was remarkably higher than in patients without lymph node etastasis ( P = 0.031).There was no significant correlation between KRAS,NRAS,PIK3CA and BRAF gene mutations.Conclusion In colorectal cancer, KRAS mutation rate is highest and occurs mostly in patients with lymph node metastasis.NRAS,PIK3CA and BRAF mutation rates are low.Combined detection of KRAS,NRAS,PIK3CA,BRAF genes in patients with colorectal cancer provides a more accurate theoretical basis for clinical individualized targeted therapy.

关 键 词：结直肠癌 KRAS NRAS PIK3CA BRAF ARMS法 

分 类 号：R735.3[医药卫生—肿瘤]