云南地区结直肠癌患者RAS/BRAF/PIK3CA基因突变状态及与临床病理特征的关系  

RAS/BRAF/PIK3CA gene mutation and its correlation with clinicopathological features of colorectal cancer patients in Yunnan

作　　者：杨猛哲 蔡静静 李卓颖 刘馨 周永春 YANG Mengzhe;CAI Jingjing;LI Zhuoying;LIU Xin;ZHOU Yongchun(Department of Molecular Diagnostic Center,Third Affiliated Hospital of Kunming Medical University/Yunnan Cancer Hospital,Yunnan Kunming 650118,China)

机构地区：[1]云南省肿瘤医院/昆明医科大学第三附属医院分子诊断中心,云南昆明650118

出　　处：《现代肿瘤医学》2024年第3期486-489,共4页Journal of Modern Oncology

基　　金：国家自然科学基金资助项目(编号:81860513)。

摘　　要：目的:本研究主要对结直肠癌患者的KRAS/NRAS/BRAF V600E/PIK3CA基因突变情况及与临床病理特征的关系进行探究。方法:我们对2018年01月至2020年01月在我院分子诊断中心进行基因检测的结直肠癌患者的KRAS/NRAS/BRAF V600E/PIK3CA突变情况进行回顾性分析,共纳入209例具有完整临床信息的患者,所有患者的基因检测都是采用高通量测序方法获得的,并对患者的人口统计学和临床信息进行分析。结果:209例结直肠癌患者中,KRAS、NRAS、BRAF V600E、PIK3CA突变例数分别为98例、7例、10例和25例,突变率分别为46.9%、3.3%、4.8%和12.0%。KRAS 2号外显子突变最常见,其中又以G12D亚型突变高发,肿瘤原发部位在直肠的患者和微卫星稳定的CRC患者KRAS突变率明显高于原发部位在左右半结肠和微卫星不稳定的患者(P<0.05);BRAF V600E在MSI-H的CRC患者中突变率显著高于MSS的患者(P<0.05);男性患者、既往没有吸烟史、有淋巴结转移、临床分期较早以及MSI-H的CRC患者有更高的PIK3CA基因突变(P<0.05);NRAS基因突变率在CRC患者不同临床病理特征组间没有明显不同,差异均没有统计学意义(P>0.05)。结论:结直肠癌中KRAS突变最常见,各突变与结直肠癌患者不同临床病理特征间存在一定的关系。Objective:To explore the mutation of KRAS/NRAS/BRAF V600E/PIK3CA gene in colorectal cancer patients and its relationship with clinicopathological features.Methods:We retrospectively analyzed the mutation of KRAS/NRAS/BRAF V600E/PIK3CA in colorectal cancer patients who underwent gene testing in the molecular diagnosis center of our hospital from January 2018 to January 2020.A total of 209 patients with complete clinical information were included.The gene testing of all patients was obtained by next generation sequencing,and the demographic and clinical information of the patients were analyzed.Results:The number of KRAS,NRAS,BRAF V600E and PIK3 CA mutations was 98,7,10 and 25 in 209 colorectal cancer patients,and the mutation rates were 46.9%,3.3%,4.8%and 12.0%,respectively.The mutation rate of KRAS exon 2 was the most common,and G12D mutation was the most frequent.The mutation rate of KRAS in CRC patients with primary tumor site in colon cancer and microsatellite stable was significantly higher than that in CRC patients with primary tumor site in left and right colon and microsatellite unstable(P<0.05).The mutation rate of BRAF V600E in CRC patients with MSI-H was significantly higher than that in patients with MSS(P<0.05).Male patients,CRC patients with no smoking history,lymph node metastasis,earlier clinical stage and MSI-H had higher PIK3CA gene mutation(P<0.05).There was no significant difference in the mutation rate of NRAS gene among different clinicopathological features of CRC patients(P>0.05).Conclusion:KRAS mutations are the most common in colorectal cancer,and there is a certain relationship between the mutations and different clinicopathological features of colorectal cancer patients.

关 键 词：结直肠癌 临床病理特征 KRAS NRAS BRAF V600E PIK3CA 

分 类 号：R735.35[医药卫生—肿瘤]