结直肠癌原发灶与肝转移灶中KRAS、PIK3CA基因突变的一致性分析

发布时间：2018-06-18 10:43

本文选题：结直肠肿瘤 + KRAS　；参考：《临床与实验病理学杂志》2017年04期

【摘要】：目的探讨结直肠癌原发灶及相应肝转移灶中KRAS、PIK3CA基因突变及临床意义。方法采用实时荧光定量PCR法检测58例结直肠癌原发灶癌组织及相应肝转移灶组织中KRAS、PIK3CA基因突变情况。结果结直肠癌原发灶与肝转移灶中KRAS基因的突变率分别为31.03%(18/58)、25.86%(15/58),最常见的突变位点为G12D;PIK3CA基因的突变率分别为8.62%(5/58)、10.34%(6/58),最常见的突变位点为E545K。有1例同时发生KRAS(G12D)、PIK3CA(E545K)基因突变。结直肠癌原发灶与肝转移灶中KRAS、PIK3CA基因突变的一致性较好。单因素分析显示:KRAS突变与结直肠癌原发灶肿瘤部位、转移灶多少、大体类型相关(P0.05),PIK3CA突变与同时性/异时性肝转移、转移灶多少相关(P0.05)。多因素Cox回归模型显示:同时性/异时性肝转移、KRAS突变状态是影响结直肠癌预后的危险因素。结直肠癌同时性肝转移比异时性肝转移患者的总生存期延长,KRAS野生型比突变型患者总生存期延长(P0.05)。结论结直肠癌中KRAS基因G12D位点突变率最高,原发灶与肝转移灶中KRAS、PIK3CA基因突变一致性较好。原发灶可以作为分子检测的标本来源,基于精准医疗对于靶向治疗的选择,则需再次评估肝转移灶中的基因状态,以达到个体化治疗。
[Abstract]:Objective to investigate the mutation and clinical significance of KRAS-PIK3 CA gene in primary colorectal cancer and corresponding liver metastases. Methods the mutation of KRAS-PIK3CA gene in 58 cases of colorectal cancer tissues and corresponding liver metastases was detected by real-time fluorescence quantitative PCR. Results the mutation rates of KRAS gene in primary colorectal cancer and hepatic metastases were 31.03 and 25.86 / 58, respectively. The most common mutation sites were G12D558 / PIK3CA gene (8.622 / 558 / 10. 34%), and the most common mutation sites were E545K. There was a mutation of KRASA G12 DV PIK 3 CAE 545 K gene in one patient at the same time. The mutation of KRASA PIK3 CA gene in primary colorectal cancer and liver metastases was consistent. Univariate analysis showed that the ratio of KRAS mutation to the primary tumor site, the number of metastatic foci, the gross type correlation between P0.05 / PIK3CA mutation and simultaneous / heterochronous liver metastasis, and the number of metastatic foci were associated with P0.05. Multivariate Cox regression model showed that the mutation status of KRAS was a risk factor for the prognosis of colorectal cancer. The total survival time of patients with simultaneous hepatic metastasis was longer than that of patients with heterotopic liver metastasis, and the total survival time of patients with KRAS wild-type specific mutation was prolonged (P 0.05). Conclusion the G12D mutation rate of KRas gene in colorectal cancer is the highest, and the mutation consistency of KRASS PIK3CA gene between primary tumor and liver metastases is good. The primary focus can be used as a sample source for molecular detection. Based on the selection of targeted therapy by precise medical treatment, the gene status in liver metastases should be re-evaluated to achieve individualized treatment.
【作者单位】：山西医科大学研究生院;山西省肿瘤医院病理科;山西省汾阳医院内分泌科;
【基金】：山西省科技厅重点研发项目(201603D321049) 山西省卫生和计划生育委员会科研课题(2014052)
【分类号】：R735.34

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