外周血DNA EGFR基因CA-SSR多态与晚期非小细胞肺癌吉非替尼临床疗效的关系

目的探讨外周血DNA表皮生长因子受体（EGFR）基因第1内含子区CA-SSR多态性与晚期非小细胞肺癌患者吉非替尼临床疗效的相关性。方法采用PCR扩增和序列测定的方法对60例接受过吉非替尼治疗的晚期非小细胞肺癌患者外周血DNA进行分析,确定CA-SSR多态的基因型,统计分析CA-SSR多态性与吉非替尼临床疗效的相关性。结果在60例患者中短CA重复序列的患者（至少一条等位基因CA重复数≤16）吉非替尼治疗后的临床获益率为85.7%,而长CA重复序列的患者（两条等位基因CA重复数均〉16）治疗后的临床获益率为48.7%,CA-SSR多态性与近期疗效具有显著的相关性（P〈0.05）,但两组患者的无进展生存和总生存均未显示出著性差异。结论外周血DNA EGFR基因第1内含子中CA-SSR多态性可以用于临床预测晚期非小细胞肺癌患者吉非替尼的近期疗效。

Relation between CA-SSR polymorphism of EGFR gene and clinical outcome of patients with advanced non-small cell lung cancer treated with gefitinib

Objective To investigate the association of CA-SSR polymorphism in intron 1 of the EGFR gene with clinical outcome in patients with advanced non-small cell lung cancer（NSCLC）treated with gefitinib.Methods 60 patients with advanced non-small cell lung cancer who received gefitinib treatment were analyzed by PCR amplification and sequencing methods,the CA-SSR polymorphic genotype was determined,the relation of CA-SSR polymorphic and clinical effect of gefitinib was statistical analyzed.Results The clinical benefit rate after the gefitinib treatment was 85.7% in patients with short CA repeat （at least one allele CA repeat≤16）,and 48.7% in patients with long CA repeat（CA repeat of both alleles 〉16）.The CA-SSR polymorphism was significantly correlated with the clinical response to gefitinib（P〈0.05）,while the progression-free survival and overall survival were similar in both groups.Conclusion CA-SSR polymorphism in intron 1 of the EGFR gene may be predictive for clinical response to gefitinib in patients with advanced NSCLC.