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目的探讨非小细胞肺癌(NSCLC)表皮生长因子受体(EGFR)基因突变的临床意义,及EGFR抑制剂治疗的意义。方法回顾性分析274例NSCLC患者的临床资料。提取肺癌组织DNA,通过PCR扩增及基因克隆进行基因检测,将测得序列与基因库中EFGR序列(NM005228.3)进行比较,分析EGFR基因突变类型及分布,并对EGFR抑制剂—小分子酪氨酸激酶抑制剂(TKI)治疗效果进行观察。结果 274例非小细胞肺癌患者的癌组织中共检出EGFR基因突变52例,基因突变率为18.98%,EGFR基因突变与性别及癌症分期相关,突变主要发生在女性、晚期患者。NSCLC患者EGFR基因突变主要发生于外显子18、19、20、21位点,其中发生EGFR-21 L858R替代突变占23.08%,EGFR-19缺失突变占21.15%。21例接受吉非替尼(TKI)治疗8例得到病情控制的患者中7例出现EGFR基因突变,余13例患者未发生EGFR基因突变。结论 EGFR基因突变对于NSCLC患者具有重要临床意义,NSCLC患者的EGFR基因检测对指导临床治疗有重要价值。
Objective To investigate the clinical significance of epidermal growth factor receptor (EGFR) gene mutation in non-small cell lung cancer (NSCLC) and the significance of EGFR inhibitor therapy. Methods The clinical data of 274 NSCLC patients were retrospectively analyzed. The DNA of lung cancer tissues was extracted and the genes were detected by PCR amplification and gene cloning. The sequence and the EFGR sequence in the gene bank (NM005228.3) were compared to analyze the type and distribution of EGFR gene mutations. The EGFR inhibitor - small molecule Tyrosine kinase inhibitor (TKI) treatment was observed. Results A total of 52 cases of EGFR gene mutation were detected in 274 cases of NSCLC. The mutation rate of EGFR gene was 18.98%. The mutation of EGFR gene was correlated with gender and stage of cancer. The mutation mainly occurred in female and advanced patients. The mutation of EGFR gene in patients with NSCLC occurred mainly in exon 18, 19, 20 and 21 sites, of which EGFR-21 L858R substitution mutation accounted for 23.08% and EGFR-19 deletion mutation 21.15%. EGFR mutations were found in 7 of 21 patients treated with gefitinib (TKI) and those in the remaining 13 patients without EGFR mutations. Conclusion EGFR gene mutation has important clinical significance for patients with NSCLC. The detection of EGFR gene in NSCLC patients is of great value in guiding the clinical treatment.