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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.
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