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目的探讨非小细胞肺癌(NSCLC)表皮生长因子受体(EGFR)突变状态及其对预测酪氨酸激酶抑制剂(TKIs)疗效的价值。方法提取58例NSCLC患者肿瘤组织和正常肺组织的DNA,用巢式PCR扩增,直接测序法检测EGFR外显子19和21基因突变。结果正常肺组织中EGFR基因均为野生型。肿瘤组织EGFR基因突变率为32.8%(19/58),外显子19和21突变率分别为73.7%(14/19)和26.3%(5/19)。腺癌、女性、不吸烟患者突变率要高于鳞癌、男性、吸烟患者(P<0.05)。随访3.0-29.3个月;58例患者的中位生存时间为23.5个月。19例EGFR基因突变者中,3例应用TKIs治疗,均健在。结论 NSCLC患者中,19外显子是EGFR基因突变的主要类型,女性、腺癌、不吸烟患者突变率较高。检测EGFR基因突变状态可用于预测NSCLC患者对TKIs治疗的敏感性。
Objective To investigate the mutation status of epidermal growth factor receptor (EGFR) in non-small cell lung cancer (NSCLC) and its value in predicting the efficacy of tyrosine kinase inhibitors (TKIs). Methods The DNA of 58 NSCLC patients and normal lung tissues were extracted. The mutations of exon 19 and 21 of EGFR gene were detected by nested PCR and direct sequencing. Results EGFR gene in normal lung tissue were wild type. The mutation rate of EGFR gene in tumor tissue was 32.8% (19/58), and the mutation rates of exon 19 and 21 were 73.7% (14/19) and 26.3% (5/19) respectively. The mutation rates of adenocarcinoma, female and non-smoker were higher than those of squamous cell carcinoma, male and smoking (P <0.05). The follow-up ranged from 3.0 to 29.3 months. The median survival time of 58 patients was 23.5 months. Of the 19 EGFR gene mutations, 3 were treated with TKIs and were all present. Conclusion Among NSCLC patients, exon 19 is the main type of EGFR gene mutation. The mutation rate of female, adenocarcinoma and non-smoker is high. Detection of EGFR gene mutation status can be used to predict the sensitivity of NSCLC patients treated with TKIs.