252例结直肠癌组织中KRAS、NRAS、BRAF、PIK3CA的基因突变分析
发布时间：2018-12-06 21:04
【摘要】：目的分析结直肠癌(colorectal cancer,CRC)组织中KRAS、NRAS、BRAF和PIK3CA基因的常见突变类型及其与临床病理指标的关系。方法对252例CRC石蜡包埋组织进行DNA提取,采用Sanger测序法对KRAS、NRAS、BRAF和PIK3CA基因进行检测,分析各个基因的突变率与临床病理特征的关系,并统计各个基因的突变类型。结果 252例CRC中,KRAS、BRAF、NRAS和PIK3CA突变发生率在性别、年龄、肿瘤部位、病理分期和有无淋巴结转移上差异均无统计学意义(P0.05);检测阳性突变共140例(55.5%),其中KRAS 113例(44.8%),NRAS 1例(0.4%),BRAF 19例(7.5%),PIK3CA 28例(11.1%),包括PIK3CA与KRAS、NRAS、BRAF基因发生双突变21例(8.3%);KRAS的主要突变类型包括G12A、G12C、G12D、G12R、G12S、G12V、G13D、T20M、A59T、Q61H、Q61L、Q61P;NRAS仅有1例突变为G12D;BRAF的主要突变类型为V600E、D594G、K601E;PIK3CA的主要突变类型包括E542K、E545K、Q546K、Q546P、Q546R、M1043I、H1047R。PIK3CA与KRAS、NRAS、BRAF之间会发生交叉突变,但KRAS、NRAS、BRAF三者之间基本不存在交叉突变。结论 CRC中KRAS阳性突变率居高,PIK3CA次之,BRAF、NRAS突变率最低,且PIK3CA常与KRAS、NRAS、BRAF发生交叉突变。对CRC患者行KRAS、NRAS、BRAF、PIK3CA等多基因检测,可正确指导并选择抗EGFR单抗药,从而实现真正意义上的个体化靶向治疗。
[Abstract]:Objective to analyze the common mutation types of KRAS,NRAS,BRAF and PIK3CA genes in colorectal cancer (colorectal cancer,CRC) and their relationship with clinicopathological parameters. Methods DNA was extracted from 252 cases of CRC paraffin embedded tissues. The KRAS,NRAS,BRAF and PIK3CA genes were detected by Sanger sequencing. The relationship between the mutation rate of each gene and the clinicopathological characteristics was analyzed, and the mutation types of each gene were analyzed. Results there was no significant difference in the incidence of KRAS,BRAF,NRAS and PIK3CA mutation in sex, age, tumor location, pathological stage and lymph node metastasis in 252 cases of CRC (P0.05). A total of 140 cases (55.5%) were detected positive mutations, including KRAS 113 cases (44.8%), NRAS 1 case (0.4%), BRAF 19 cases (7.5%), PIK3CA 28 cases (11.1%), including PIK3CA and KRAS,NRAS,). There were 21 cases (8.3%) with double mutation of BRAF gene. The main mutation types of KRAS include G12An G12C, G12RG12RG12RG12RG12SU G12VG13DUT T20MU A59T10Q61LQ61PNRAs, only one main mutation type of G12DU BRAF is V600EN D594GUK601E; The main mutation types of PIK3CA include E542KU, E545KGN, Q546K, Q546P, Q546RPIK3CA, M1043IH1047R.PIK3CA and KRAS,NRAS,BRAF, but there is no cross mutation between KRAS,NRAS,BRAF and M1043IH1047R.PIK3CA. Conclusion the positive mutation rate of KRAS is higher in CRC, followed by PIK3CA, BRAF,NRAS mutation is the lowest, and PIK3CA often has cross mutation with KRAS,NRAS,BRAF. The detection of KRAS,NRAS,BRAF,PIK3CA and other polygenes in patients with CRC can correctly guide and select anti EGFR monoclonal resistance, so as to realize individual targeted therapy in real sense.
【作者单位】： 广东省中医院病理科;
【分类号】：R735.34
，
本文编号：2366655
[Abstract]:Objective to analyze the common mutation types of KRAS,NRAS,BRAF and PIK3CA genes in colorectal cancer (colorectal cancer,CRC) and their relationship with clinicopathological parameters. Methods DNA was extracted from 252 cases of CRC paraffin embedded tissues. The KRAS,NRAS,BRAF and PIK3CA genes were detected by Sanger sequencing. The relationship between the mutation rate of each gene and the clinicopathological characteristics was analyzed, and the mutation types of each gene were analyzed. Results there was no significant difference in the incidence of KRAS,BRAF,NRAS and PIK3CA mutation in sex, age, tumor location, pathological stage and lymph node metastasis in 252 cases of CRC (P0.05). A total of 140 cases (55.5%) were detected positive mutations, including KRAS 113 cases (44.8%), NRAS 1 case (0.4%), BRAF 19 cases (7.5%), PIK3CA 28 cases (11.1%), including PIK3CA and KRAS,NRAS,). There were 21 cases (8.3%) with double mutation of BRAF gene. The main mutation types of KRAS include G12An G12C, G12RG12RG12RG12RG12SU G12VG13DUT T20MU A59T10Q61LQ61PNRAs, only one main mutation type of G12DU BRAF is V600EN D594GUK601E; The main mutation types of PIK3CA include E542KU, E545KGN, Q546K, Q546P, Q546RPIK3CA, M1043IH1047R.PIK3CA and KRAS,NRAS,BRAF, but there is no cross mutation between KRAS,NRAS,BRAF and M1043IH1047R.PIK3CA. Conclusion the positive mutation rate of KRAS is higher in CRC, followed by PIK3CA, BRAF,NRAS mutation is the lowest, and PIK3CA often has cross mutation with KRAS,NRAS,BRAF. The detection of KRAS,NRAS,BRAF,PIK3CA and other polygenes in patients with CRC can correctly guide and select anti EGFR monoclonal resistance, so as to realize individual targeted therapy in real sense.
【作者单位】： 广东省中医院病理科;
【分类号】：R735.34
，
本文编号：2366655
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