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目的:探讨非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变的情况及EGFRTKI的治疗效果。方法:从94例晚期NSCLC患者的肿瘤组织中提取DNA,采用DNA直接测序技术检测EGFR基因18、19、20、21外显子的突变情况。对EGFR基因突变可评估患者采用TKI口服治疗(吉非替尼250 mg/d、厄洛替尼150mg/d),评价客观有效率(RR)、疾病控制率(DCR)及无疾病进展时间。结果:94例患者中39例(41.5%)存在EGFR基因突变,其中27例外显子19突变,2例外显子20突变,9例外显子21突变、1例外显子18突变。女性患者突变率显著高于男性(56.1%vs 30.2%,P<0.05);腺癌患者突变率高于非腺癌患者(48%vs 15.8%,P<0.05);不吸烟者突变率显著高于吸烟者(50.8%vs20.7%,P<0.05)。16例患者口服TKI后部分缓解5例、疾病稳定7例、疾病进展PD4例,客观有效率为31.2%,疾病控制率为75.0%,截至随访结束,仍有14例患者生存,无疾病进展时间为(11.31±4.44)个月,1年生存率为43.8%。结论:DNA直接测序检测晚期NSCLC患者EGFR基因突变具有高度敏感性,以EGFR基因突变结果为依据,应用TKI治疗晚期NSCLC疗效明显。
Objective: To investigate the mutation of epidermal growth factor receptor (EGFR) gene in patients with non-small cell lung cancer (NSCLC) and the therapeutic effect of EGFRTKI. Methods: DNA was extracted from the tumor tissue of 94 patients with advanced NSCLC. The mutations of exon 18, 19, 20, and 21 of EGFR gene were detected by DNA direct sequencing. Patients with EGFR mutations can be evaluated by oral administration of TKI (gefitinib 250 mg / d, erlotinib 150 mg / d) to assess objective response rate (RR), disease control rate (DCR) and duration of disease-free progression. Results: EGFR gene mutations were found in 39 cases (41.5%) of 94 patients, including 27 exon 19 mutations, 2 exon 20 mutations, 9 exon 21 mutations and 1 exon 18 mutation. The mutation rate of female patients was significantly higher than that of male patients (56.1% vs 30.2%, P <0.05). The mutation rate of adenocarcinoma patients was higher than that of non-adenocarcinoma patients (48% vs 15.8%, P <0.05) For smokers (50.8% vs 20.7%, P <0.05). Sixteen patients were partially relieved after oral administration of TKI in 5 cases, stable in 7 cases, progressive PD 4 in 4 cases, with an objective response rate of 31.2% and a disease control rate of 75.0%. As of the end of follow-up, there were still 14 patients with no disease progression time (11.31 ± 4.44) months, one-year survival rate was 43.8%. Conclusion: DNA sequencing directly detects EGFR gene mutation in patients with advanced NSCLC. The results of EGFR gene mutation indicated that the treatment of advanced NSCLC with TKI was effective.