KRAS、NRAS、BRAF、PIK3CA、NTRK1基因联合检测在结直肠癌中的表达  

Combined detection of KRAS,NRAS,BRAF,PIK3CA,and NTRK1 gene expression in colorectal cancer

作　　者：杜劲 齐妍 曾妍 邱瑾[3] 王吉林 庄斯慧 黄政华 DU Jin;QI Yan;ZENG Yan;QIU Jin;WANG Jilin;ZHUANG Sihui;HUANG Zhenghua(Department of Pathology,Zhanjiang Central People's Hospital,Zhanjiang,Guangdong,China,524037;Zhanjiang Central People's Hospital,Precision Medicine Laboratory,Zhanjiang,Guangdong,China,524037;Clinical Laboratory of Zhanjiang Central People's Hospital,Zhanjiang,Guangdong,China,524037)

机构地区：[1]湛江中心人民医院病理科,广东湛江524037 [2]湛江中心人民医院精准医学检验实验室,广东湛江524037 [3]湛江中心人民医院检验科,广东湛江524037

出　　处：《分子诊断与治疗杂志》2024年第2期216-219,224,共5页Journal of Molecular Diagnostics and Therapy

基　　金：湛江市科技计划(210916094540591)。

摘　　要：目的探究KRAS、NRAS、BRAF、PIK3CA、NTRK1基因突变与结直肠癌(CRC)患者临床病理特征存在的关系,并探讨联合检测对CRC患者预后的预测价值。方法选取湛江中心人民医院病理科收治的CRC患者200例为研究对象,收集其CRC手术切除或穿刺活检标本提取DNA,采用人类癌症多基因突变联合检测试剂盒检测KRAS、NRAS、BRAF、PIK3CA、NTRK1基因突变状态,分析其与CRC患者临床病理特征的关系,分析KRAS、NRAS、BRAF、PIK3CA、NTRK1基因突变状态单一检测及联合检测对CRC复发的预测价值;采用Kaplan-Meier生存曲线和Log-rank法比较两组患者的生存率,Cox回归综合生存分析影响患者预后的危险因素。结果KRAS、BRAF基因突变与pTNM分期有关(χ^(2)=6.714、5.451,P<0.05);KRAS与BRAF基因突变存在相关性(r=-0.157,P=0.027),KRAS、NRAS、BRAF、PIK3CA与NTRK1单一基因检测与多基因联合检测对预测CRC复发均具有一定价值,其中KRAS、NRAS、BRAF、PIK3CA与NTRK1基因联合检测对CRC复发情况的诊断准确性最高(AUC=0.797),但KRAS、BRAF、PIK3CA与NTRK1联合检测灵敏度最高(0.861),PIK3CA单一检测特异度最高(0.969),KRAS、NRAS、BRAF、PIK3CA、NTRK1基因未突变的CRC患者第3、5年的总生存率与无瘤生存率均高于基因突变患者,Cox回归综合生存分析结果显示年龄>60岁,KRAS、BRAF、PIK3CA、NTRK1基因突变为影响CRC患者总生存时间的独立预测因子(P<0.05)。结论CRC患者KRAS、NRAS、BRAF、PIK3CA、NTRK1基因突变无明显相关性,但各基因单一或联合检测对CRC复发情况具有一定价值,可作为患者预后评估的重要指标。Objective To investigate the relationship between mutations in KRAS,NRAS,BRAF,PIK3CA,and NTRK1 genes and clinicopathological characteristics in patients with colorectal cancer(CRC),and to explore the prognostic value of combined detection in CRC patients.Methods A total of 200 CRC patients were selected as research subjects,and the clinical data were collected.DNA was extracted from CRC surgical resection or puncture biopsy specimens,and the mutation status of the KRAS,NRAS,BRAF,PIK3CA,and NTRK1 genes was detected using a human cancer multi-gene mutation combined detection kit.The relationship between the mutation status and pathological features of CRC patients was analyzed.The pa-tients were divided into groups based on whether they had recurrent CRC during follow-up,and the diagnostic value of single or combined detection of KRAS,NRAS,BRAF,PIK3CA,and NTRK1 gene mutation status for CRC recurrence was analyzed.Additionally,Kaplan-Meier survival curve and log-rank method were used to compare the survival rates of the two groups.Cox regression analysis was conducted to comprehensively analyze the risk factors affecting the prognosis of patients.Results KRAS and BRAF gene mutations were found to be as-sociated with pTNM staging(χ^(2)=6.714,5.451,P<0.05),and there was a correlation between KRAS and BRAF gene mutations(r=-0.157,P=0.027),while no correlation was observed between other gene mutations(P>0.05).Sngle gene detection of KRAS,NRAS,BRAF,PIK3CA,and NTRK1 and combined multi-gene detection were found to have certain value in predicting CRC recurrence.The combined detection of KRAS,NRAS,BRAF,PIK3CA,and NTRK1 genes showed the highest diagnostic accuracy for CRC recurrence(AUC=0.797),but the combined detection of KRAS,BRAF,PIK3CA,and NTRK1 had the highest sensitivity(0.861).PIK3CA had the highest specificity(0.969).The overall survival rate and disease-free survival rate at 3 and 5 years in CRC patients without KRAS,NRAS,BRAF,PIK3CA,and NTRK1 gene mutations were higher than those in CRC patients with gene mutation

关 键 词：结直肠癌 临床病理特征 分子标志物 联合检测 

分 类 号：R735.34[医药卫生—肿瘤] R730.43[医药卫生—临床医学]