联合TCGA数据库探索NSCLC病人EGFR基因突变结果及其临床意义

    Combined with TCGA database to explore the results of EGFR gene mutation in NSCLC patients and its clinical significance

    • 摘要:
      目的 联合癌症基因组图谱(the cancer genome altas, TCGA)数据库获取数据结果, 分析非小细胞肺癌(NSCLC)病人临床特征及预后与热点驱动基因突变类型的相关性。
      方法 回顾性分析住院治疗的NSCLC病人115例临床资料(NSCLC组), 通过第二代高通量测序检测基因突变情况, 并联合TCGA数据库获取NSCLC的临床资料与基因突变数据, 分析基因突变与病人预后的关系。
      结果 高通量测序结果显示, NSCLC组病人基因总突变率为76.52%(88/115), 其中人表皮生长因子受体(EGFR)突变率为53.91%(62/115);TCGA数据库中基因总突变率为93.57%, EGFR基因突变率仅占7%。NSCLC组EGFR单位点突变与共突变病人是否发生远处转移间差异有统计学意义(P < 0.05);多因素分析结果显示, 基因突变个数是影响病人预后的独立危险因素(P < 0.05)。
      结论 EGFR点位点突变与共突变对NSCLC病人预后存在一定影响, 多基因共突变病人预后较好, 临床治疗需关注基因共突变情况。

       

      Abstract:
      Objective To obtain data results from the cancer genome altas (TCGA) database and analyze the correlation between clinical features and prognosis of patients with non-small cell lung cancer (NSCLC) and the types of hotspot driver mutations.
      Methods The clinical data of 115 hospitalized patients with NSCLC (NSCLC group) were retrospectively analyzed.Gene mutation was detected by second-generation high-throughput sequencing, and the clinical data and gene mutation data of NSCLC were obtained by combining TCGA database to analyze the relationship between gene mutation and patient prognosis.
      Results High-throughput sequencing results showed that the total gene mutation rate of NSCLC patients was 76.52% (88/115), and the human epidermal growth factor receptor (EGFR) mutation rate was 53.91% (62/115).The total mutation rate of genes in TCGA database was 93.57%, and the mutation rate of EGFR gene was only 7%.There was significant difference between NSCLC patients with EGFR unit point mutation and co-mutation in whether distant metastasis occurred (P < 0.05).The results of multi-factor analysis showed that the number of gene mutations was an independent risk factor affecting the prognosis of patients (P < 0.05).
      Conclusions EGFR point mutation and co-mutation have a certain effect on the prognosis of NSCLC patients, and patients with polygenic co-mutation have a better prognosis, and clinical treatment should pay attention to the situation of gene co-mutation.

       

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