RAS、BRAF基因突变及HER2基因扩增与结直肠癌患者临床病理特征及预后的关系  

Relationship between RAS,BRAF gene mutations and HER2 gene amplification and clinicopathology and prognosis of colorectal cancer

作　　者：杨利华 杨树东[1] Yang Lihua;Yang Shudong(Department of Pathology,Affiliated Wuxi People's Hospital,Nanjing Medical University,Wuxi 214023,China)

机构地区：[1]南京医科大学附属无锡市人民医院病理科,无锡214023

出　　处：《中华普通外科杂志》2022年第11期845-849,共5页Chinese Journal of General Surgery

摘　　要：目的探讨结直肠癌RAS、BRAF基因突变及HER2基因扩增与患者的临床病理特征及预后的关系。方法回顾性分析268例结直肠癌患者的临床病理资料,检测KRAS、NRAS、BRAF基因突变及HER2基因扩增。结果 268例结直肠癌患者中KRAS基因突变率为53.4%,NRAS基因突变率为2.6%,BRAF基因突变率为3.0%,HER2基因扩增阳性率为6.7%。KRAS基因突变更容易发生在右半结肠癌和直肠癌,BRAF基因突变主要发生在右半结肠癌中,差异均有统计学意义(χ^(2)=10.824,P=0.004;P=0.044)。HER2基因扩增更容易出现在RAS、BRAF野生型的结直肠癌患者中,差异有统计学意义(OR=0.322,95%CI:0.117~0.887,P=0.027)。单因素分析显示,与野生型比较,RAS基因突变患者的无进展生存期缩短,差异有统计学意义(χ^(2)=6.153,P=0.013),而总生存期差异无统计学意义(χ^(2)=1.938,P=0.164)。与野生型比较,BRAF基因突变患者的无进展生存期与总生存期均短,差异均有统计学意义(χ^(2)=8.090,P=0.004;χ^(2)=11.125,P=0.001)。多因素分析结果显示BRAF基因突变是结直肠癌患者生存的独立影响因素(HR=3.536,95%CI:1.305~9.583,P=0.013)。结论 BRAF基因突变是结直肠癌患者不良预后的独立影响因素。Objective To investigate the relationship between RAS,BRAF gene mutations and HER2 gene amplification and clinicopathology and prognosis of colorectal cancer.Methods The clinical data of 268 patients with colorectal cancer were retrospectively analyzed.KRAS,NRAS and BRAF gene mutations and the HER2 gene amplication were detected.Results The mutation rates of KRAS,NRAS and BRAF were 53.4%,2.6%and 3.0%,respectively.The amplification rate of HER2 was 6.7%.KRAS gene mutation tended to occur in the right side colon and rectal cancers(χ^(2)=10.824,P=0.004).BRAF gene mutation mainly occurred in the right side colon cancer(P=0.044).HER2 gene amplification tended to occur in colorectal cancer patients with RAS/BRAF wild-type(OR=0.322,95%CI:0.117-0.887,P=0.027).Univariate analysis showed that the progress-free survival of colorectal cancer patients with RAS mutation was significantly shorter than that of the patients with wild(χ^(2)=6.153,P=0.013),and there was no significant difference in overall survival time(χ^(2)=1.938,P=0.164).The progress-free survival and overall survival time were shorter in BRAF mutation than in the wild type(χ^(2)=8.090,P=0.004;χ^(2)=11.125,P=0.001).Multivariate analysis showed that BRAF gene mutation was independent risk factor for survival of colorectal cancer patients(HR=3.536,95%CI:1.305-9.583,P=0.013).Conclusion BRAF gene mutations was independent risk factor for poor prognosis of colorectal cancer patients.

关 键 词：结直肠肿瘤 DNA突变分析 基因扩增 预后 

分 类 号：R735.34[医药卫生—肿瘤]