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目的探讨非小细胞肺癌患者表皮生长因子受体(epidermal growth factor receptor,EGFR)基因突变特征及其在非小细胞肺癌治疗中的指导意义。方法分别提取126例非小细胞肺癌患者手术切除的肺癌组织及癌旁组织DNA,采用PCR法扩增编码EGFR基因的第18、19、20、21外显子片段,对扩增片段进行DNA测序并分析。结果肺癌组织EGFR基因突变率为43.7%(55/126),外显子18、19、20和21分别占突变总数的9.1%(5/55),43.6%(24/55),7.3%(4/55)和40.0%(22/55);女性患者EGFR基因突变率(60.6%)明显高于男性患者(37.6%)(P<0.05),腺癌患者突变率(68.8%)明显高于鳞癌(22.2%)和腺鳞癌患者(54.5%)(P<0.05),淋巴结转移者突变率(54.3%)明显高于未转移者(30.4%)(P<0.05),不吸烟患者突变率(52.6%)高于吸烟患者(29.2%)(P<0.05);癌旁组织未检出EGFR基因突变。结论非小细胞肺癌患者EGFR基因突变率较高,在接受EGFR酪氨酸激酶抑制剂治疗前有必要行EGFR基因突变检测。
Objective To investigate the characteristics of epidermal growth factor receptor (EGFR) gene mutations in patients with non-small cell lung cancer and its significance in the treatment of non-small cell lung cancer. Methods Totally 126 lung cancer tissues and adjacent tissues were excised from patients with non-small cell lung cancer (NSCLC) respectively. The 18th, 19th, 20th and 21st exon fragments encoding EGFR gene were amplified by PCR. The amplified fragments were sequenced by DNA sequencing And analyze. Results The mutation rate of EGFR gene in lung cancer tissues was 43.7% (55/126), and the exons 18, 19, 20 and 21 accounted for 9.1% (5/55), 43.6% (24/55) and 7.3% The prevalence of EGFR mutation in female patients was significantly higher than that in male patients (37.6% vs 60.6%, P <0.05). The mutation rate in patients with adenocarcinoma (68.8%) was significantly higher than that in male patients Squamous cell carcinoma (22.2%) and adenosquamous carcinoma (54.5%) (P <0.05). The mutation rate of lymph node metastasis (54.3%) was significantly higher than that of non-metastatic adenocarcinoma (30.4%) (P <0.05) The rate (52.6%) was higher than that in smokers (29.2%) (P <0.05). The EGFR gene mutation was not detected in adjacent tissues. Conclusion The mutation rate of EGFR gene in patients with non-small cell lung cancer is high. It is necessary to detect EGFR gene mutations before treatment with EGFR tyrosine kinase inhibitors.