结直肠癌患者血浆循环游离DNA的RAS突变与临床特征的关系

发布时间：2018-04-17 18:36

  本文选题：结直肠癌 + 循环游离DNA　； 参考：《南方医科大学学报》2017年07期

【摘要】：目的探讨结直肠癌患者血浆循环游离DNA(cfDNA)与肿瘤组织DNA的RAS基因突变检测的一致性,以及与临床特征的关系。方法收集71例结直肠癌患者的血浆及肿瘤组织标本。采用多重荧光PCR法检测血浆标本cfDNA的RAS的基因突变状态,并与肿瘤组织标本的相应基因突变状态对比分析。分析血浆RAS基因突变状态与患者临床特征的关系。结果血浆cfDNA的RAS突变率为32.39%,组织DNA的RAS突变率为50.70%,两种标本的RAS突变检测的一致率为76.06%,血浆cfDNA与组织DNA的RAS突变检测结果一致(Kappa=0.523,P=0.000)。血浆cfDNA检测的敏感性为58.33%、特异性为94.29%、阳性预测值为91.30%、阴性预测值为68.75%。血浆cfDNA的RAS突变状态与结直肠癌患者年龄、性别、分期(Ⅳa与Ⅳb)、原发肿瘤部位、肺转移、CEA水平、CA199水平等无明显相关性,而血浆cfDNA的RAS突变与结直肠癌患者肝脏转移有相关性(P=0.045),肝转移患者较未发生肝转移的患者突变率升高。结论血浆cfDNA可以作为无法获得组织标本的结直肠癌患者的RAS基因检测的替代标本,具有临床应用价值,且结直肠癌患者肝脏转移cfDNA RAS突变率升高。
[Abstract]:Objective to investigate the relationship between plasma circulating free DNA-cfDNA and RAS gene mutation in tumor tissues and its relationship with clinical features in colorectal cancer patients.Methods Plasma and tumor tissue specimens were collected from 71 patients with colorectal cancer.Multiplex fluorescence PCR method was used to detect the mutation status of RAS gene in plasma cfDNA, and the mutation status of RAS was compared with that of tumor tissue.To analyze the relationship between the mutation status of plasma RAS gene and the clinical characteristics of patients.Results the RAS mutation rate of plasma cfDNA was 32.39 and the RAS mutation rate of tissue DNA was 50.70. The consistent detection rate of RAS mutation in two kinds of samples was 76.06. The results of RAS mutation detection of plasma cfDNA and tissue DNA were in agreement with that of Kappa (0.523) P 0.000.The sensitivity, specificity, positive predictive value and negative predictive value of plasma cfDNA were 58.33, 94.29, 91.30 and 68.75, respectively.There was no significant correlation between plasma cfDNA mutation status and age, sex, stage (鈪，

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