摘要
目的检测结直肠癌组织KRAS、NRAS、BRAF及PIK3CA基因突变状态,并分析突变与临床病理特征的关系。方法收集结直肠癌手术切除或穿刺活检标本189例,提取DNA后,采用突变扩增阻滞系统技术(ARMS)检测KRAS、NRAS、BRAF及PIK3CA基因的突变状态,并分析基因突变与临床特征的关系。结果 KRAS基因突变率为49.7%,2号外显子突变最常见;NRAS基因突变率为3.7%;BRAF基因突变率为4.2%;PIK3CA基因突变率为2.6%;PIK3CA基因突变者均与KRAS存在共同突变;近端结肠癌患者KRAS突变率显著高于远端结肠癌患者(P=0.048);无神经束侵犯结肠癌患者NRAS突变率显著高于有神经束侵犯患者(P=0.001);肿瘤浸润深度T4患者BRAF基因突变率显著高于浸润深度为T1~T3的患者(P=0.029);低分化肿瘤患者BRAF基因突变率显著高于中高分化肿瘤患者(P=0.023)。结论结直肠癌患者KRAS基因突变率较高,KRAS、NRAS和BRAF突变率与结直肠癌临床病理特征存在关联。
Objective To study the relationship between KRAS,NRAS,BRAF and PIK3 CA mutations and the clinicopathological features in patients with colorectal cancer(CRC).Methods The 189 samples of colorectal cancer were collected by surgical excision or biopsy,and DNA were extracted.The mutations of KRAS,NRAS,BRAF and PIK3 CA genes were detected by amplification refractory mutation system,and its relationship with clinicopathological features of CRC was analyzed.Results The mutations rate of KRAS were 49.7%,in most exon2 mutations;the mutations rate of NRAS were 3.7%;the mutations rate of BRAF were 4.2%;the mutations rate of PIK3 CA were 2.6%.There were 5 patients with PIK3 CA gene mutations,all of them had KRAS mutations.KRAS mutations were significantly more prevalent in tumors in the proximal colon than in tumors in the distal colon(P=0.048).NRAS mutations rate in patients without nerve bundle invasion were remarkably higher than in patients with nerve bundle invasion(P=0.001).BRAF mutations were significantly more prevalent in tumors in T4 than in tumors in T1-T3(P=0.029).BRAF mutations were also more common in poorly differentiated tumors than in well and moderately differentiated tumors(P=0.023).Conclusions The mutations rate of KRAS gene is high,KRAS,NRAS and BRAF mutations were significantly correlated with the clinicopathological features of CRC.
作者
林志坚
徐韫健
温广明
Lin Zhijian;Xu Yunjian;Wen Guangming(Department of Medical Laboratory,the First Affiliated Hospital of Guangzhou Medical University,Guangzhou Guangdong 510120,China;Department of Gastrointestinal Surgery,the First Affiliated Hospital of Guangzhou Medical University,Guangzhou Guangdong 510120,China)
出处
《中华临床实验室管理电子杂志》
2021年第4期217-221,共5页
Chinese Journal of Clinical Laboratory Management(Electronic Edition）
基金
广东省医学科研基金(B2020053)。
关键词
结直肠肿瘤
基因
突变
Colorectal cancer
Gene
Mutation
