非小细胞肺癌患者血浆表皮生长因子受体基因突变检测及其临床意义

目的 探讨表皮生长因子受体基因（EGFR）在多种肺部肿瘤中的突变情况及其临床意义.方法 对2006年6月至2012年6月入住我院的60例肺部肿瘤患者的临床资料进行回顾性分析,应用EGFR基因突变酶切富集PCR法对患者血浆游离核酸EGFR基因外显子-19缺失以及外显子-21 L858R发生突变.对血浆EGFR基因突变与患者的性别、吸烟史、TNM分期、病理类型以及吉非替尼治疗客观有效率与疾病无进展等之间的关系加以分析.结果 （1）本组60例患者血浆标本共检测出EGFR基因发生突变数为29例,突变率为48.3％,且血浆EGFR基因突变多发生于肺腺癌患者中（P＜0.01）;（2）血浆中EGFR水平与肺部良性病变EGFR水平存在统计学差异（P＜0.01）,且肺鳞癌、肺腺鳞癌患者血浆中的EGFR水平与肺腺癌血浆中的EGFR存在统计学差异（P＜0.05）;（3）在本组34例接受吉非替尼治疗的患者之中,血浆EGFR基因突变呈阳性的患者的客观有效率与中位疾病无进展生存期均要明显优于血浆EGFR 的基因突变阴性患者（P＜0.01）.结论 EGFR基因在多种肺部肿瘤中的突变率接近50％,且血浆游离核酸酶切富集PCR法能够灵敏而特异地对EGFR基因出现突变的情况进行检测,且基因突变检测呈阳性患者对吉非替尼的反应率要显著地高于野生型患者.

Clinical research on detection of epidermal growth factor receptor gene mutations in a variety of lung tumors

Objective To investigate the epidermal growth factor receptor （EGFR） gene mutations in a variety of lung tumors and its clinical significance.Methods The clinical data of 60 cases of lung cancer patients admitted to our hospital during June 2006 to June 2012 were retrospectively analyzed,and then we applied the EGFR mutations digested enriched PCR method of plasma free nucleic EGFR exon-19 deletion and exon-21 L858R mutation.Patients with plasma EGFR gene mutation,sex,smoking history,TNM stage,pathological type and gefitinib treatment objective relationship between efficiency and disease progression-free were analyzed.Results （1） The group of 60 patients,plasma samples were detected and discovered the EGFR gene mutations were 29 cases,the mutation rate was 48.3％,and the plasma EGFR gene mutations occurred in lung adenocarcinoma patients （P ＜0.01） as well as non-smoking patients （P ＜0.01） ;（2） There was a statistically significant difference between the EGFR level of plasma and EGFR level of benign pulmonary disease （P ＜ 0.01）,and there was a significant difference between lung squamous cell lung adenosquamous carcinoma and mast cell cancer of plasma in EGFR levels （P ＜ 0.05） ; （3） In the group of 34 patients received gefitinib treatment in patients with plasma EGFR gene mutation-positive patients objective efficiency with a median disease progression-free survival were significantly higher than plasma EGFR gene mutation-negative patients （P ＜0.01）.Conclusions EGFR gene mutations in a variety of lung tumor rate is nearly 50％,and plasma free nucleic acid digestion enriched PCR method can sensitively detect specific mutations in the EGFR gene and gene mutation detection positive patients on gefitinib reaction rate to be significantly higher than those of the wild-type patients.