非小细胞肺癌患者外周血表皮生长因子受体基因突变的检测及临床意义  

Clinical Significance of Epidermal Growth Factor Receptor Mutations from Patients with Non-Small Cell Lung Cancer

作　　者：何臣[1] 刘明[2] 周承志[2] 徐军[2] 

机构地区：[1]深圳市宝安区人民医院呼吸内科,广东深圳518101 [2]广州医学院第一附属医院广州呼吸疾病研究所呼吸疾病国家重点实验室,广东广州510120

出　　处：《中国呼吸与危重监护杂志》2011年第3期273-277,共5页Chinese Journal of Respiratory and Critical Care Medicine

基　　金：广东省自然科学基金资助项目(编号:07117506);广州市重点攻关基金资助项目(编号:2001Z036012)

摘　　要：目的探讨外周血表皮生长因子受体(EGFR)基因突变在非小细胞肺癌(NSCLC)吉非替尼治疗适宜患者筛选中的价值。方法对2005年12月至2007年12月在广州医学院第一附属医院肿瘤血液中心治疗的170例NSCLC患者,应用EGFR基因突变酶切富集PCR法分析血浆游离核酸EGFR基因外显子19缺失和外显子21L858R突变。分析血浆EGFR基因突变与性别、吸烟史、病理类型、TNM分期、吉非替尼治疗客观缓解率和疾病无进展生存期间的关系。结果 170例血浆标本共检出血浆EGFR基因突变77例,突变率为45.3%。血浆EGFR基因突变主要见于肺腺癌患者(P<0.001)及非吸烟者(P=0.001)。在33例接受吉非替尼治疗的患者中,血浆EGFR基因突变阳性患者的客观有效率和中位疾病无进展生存期均显著优于血浆EGFR基因突变阴性患者(P=0.001)。结论血浆游离核酸酶切富集PCR法能够灵敏而特异地检测NSCLC的EGFR基因突变。突变检测阳性者对吉非替尼的反应率明显高于野生型患者。Objective To evaluate the clinical significance of epidermal growth factor receptor(EGFR) mutations in the treatment of non-small cell lung cancer(NSCLC).Methods Plasma DNAs isolated from blood specimens of 170 NSCLC patients,who were admitted in the First Affiliated Hospital of Guangzhou Medical College from December 2005 to December 2007,were subjected to the test of EGFR mutant-enriched PCR.The correlation of mutant detection with clinical characteristics was analyzed as well.Results Out of the total 170 patients,EGFR mutations were identified in 77 cases(77/170,45.3%).EGFR mutations were more frequent in the patients with adenocarcinoma(P<0.001) and in the non-smokers(P=0.001).In the 33 patients treated with gefitinib,those with mutations (+) showed a higher response rate and prolonged progression-free survival after the treatment compared with those with mutations(-)(P=0.001 and 0.001,respectively).Conclusions EGFR active mutations can be specifically and sensitively detected by EGFR mutant enriched PCR assay.Plasma EGFR mutants detection is valuable in guiding clinical decision.

关 键 词：非小细胞肺癌 表皮生长因子受体 点突变 酶切富集PCR法 

分 类 号：R734.2[医药卫生—肿瘤]