EGFR第一内含子(CA)n多态与非小细胞肺癌EGFR TKIs治疗敏感性的关系  

Relation between(CA) n polymorphism in intron 1 of EGFR gene and clinical outcome of patients with advanced lung cancer treated with EGFR-TKIs

作　　者：王剑蓉[1] 李惠[1] 王耀辉[1] 刘春样[1] 王露[1] 司海鹏[1] 韩梅[1] 赖仁胜[1] 

机构地区：[1]南京中医药大学附属医院病理科 国家中医药管理局三级分子生物学实验室,江苏南京210029

出　　处：《临床和实验医学杂志》2014年第17期1426-1429,共4页Journal of Clinical and Experimental Medicine

摘　　要：目的探讨表皮生长因子受体（EGFR）基因第一内含子（CA）n双核苷酸重复序列多态性与非小细胞肺癌（NSCLC）患者EGFR酪氨酸激酶抑制剂治疗敏感的相关性。方法用基因测序的方法检测了NSCLC患者274例肿瘤标本、13例血液标本EGFR基因第一内含子（CA）n重复多态,并随访了其中76例患者EGFR酪氨酸激酶抑制剂治疗情况,统计学分析（CA）n多态性与EGFR-TKIs治疗疗效的相关性。结果 274例NSCLC患者中共检测到12种不同的（CA）n重复多态,包含的CA重复序列数为9~23。118例（43.07%）患者为CA短重复（n≤16）,156例（56.93%）为CA长重复（n〉16）。13例NSCLC患者血液标本,5例（38.46%）为CA短重复（n≤16）,8例（61.54%）为CA长重复（n〉16）。携带短CA重复序列的患者EGFR酪氨酸激酶抑制剂治疗后的疾病控制率为80.56%,而在长CA重复序列的患者为50%,（CA）n多态性与近期疗效具有显著的相关性（P=0.005）。结论 EGFR基因第一内含子区（CA）n多态性可以应用于临床预测NSCLC患者EGFR酪氨酸激酶抑制剂的近期疗效。Objective To explore the association of（ CA） n polymorphism in intron 1 of the EGFR gene with clinical outcome in patients with non small-cell lung cancer treated with EGFR TKIs. Methods CA repeat polymorphisms in intron 1 of EGFR from 274 tumor specimens of NSCLC patients and 13 peripheral blood samples as controls were analyzed by direct sequencing. 76 NSCLC patients treated with EGFR-TKIs were followed up to analyze the relation between（ CA） n polymorphism in intron 1 of EGFR gene and clinical outcome. Results Twelve different（ CA） n polymorphism were identified in the 274 patients,with the number of CA dinucleotide repeats ranging from 9 to 23. CA repeat was short（ n≤16） in 118（ 43.07%） and long（ n〉 16） in 156（ 56.93%） patients. Disease control rate after EGFR-TKIs treatment was 80.56% in patients with short CA repeat,and 50% in patients with long CA repeat.（ CA） n polymorphism was significantly correlated with the clinical response to EGFR-TKIs（ P = 0. 005）. Conclusion（ CA） n polymorphism in intron 1 of the EGFR gene may be predictive for clinical response to EGFR-TKIs in NSCLC patients.

关 键 词：非小细胞肺癌 EGFR基因 基因多态性 分子靶向治疗 

分 类 号：R734.2[医药卫生—肿瘤]