摘要目的 比较活检标本、胸水标本和血液标本在肺腺癌患者表皮生长因子受体( EGFR)基因检测方面的差异,分析EGFR突变与患者临床表征之间的相关性.方法 收集新疆医科大学第一附属医院2015年6 至12 月原发性肺腺癌临床ⅢB 期及Ⅳ期的患者标本100 例.患者中男性43例,女性57例;年龄40~88岁,平均66岁.通过荧光定量PCR方法检测100例肺腺癌肿瘤标本,分为两组,每组50例;其中一组检测活检标本和血液标本;另一组检测胸水标本和血液标本,检测是否具有EGFR基因突变.结果 活检标本的阳性率(54%,27/50)高于血液标本(46%,23/50),但两者差异无统计学意义(χ2=0.640,P=0.424);胸水标本的阳性率(42%,21/50)也高于血液标本(34%,17/50),但两者差异无统计学意义(χ2=0.679,P=0.409).虽然如此,在活检组织与血液对比组中,有2对标本中EGFR基因在血液标本检测为突变型,而在活检标本中检测为野生型.胸水与血液对比组中;有4对标本中EGFR基因在胸水标本检测为突变型,而在血液中检测为野生型.此外,通过分析发现EGFR基因突变频率与患者年龄、民族无显著相关性,而与性别、是否吸烟有相关性(P＜0.05).在指导靶向用药方面,组织EGFR基因突变阳性患者中位无进展生存期为9.5个月,胸水及血液组分别为8.6及8.5个月.3组中位无进展生存期之间差异无统计学意义.结论 血液标本检测具有取样方便、可减轻患者痛苦等优势,也是作为患者可选EGFR基因检测的补充.但是在两组研究中,血液标本的阳性率均比较低,提示荧光定量PCR法检测血液标本中EGFR基因突变仍需进一步的深入研究以提高检测的准确性.

abstractsObjective To compare different specimen types of lung adenocarcinoma in the detection of epidermal growth factor receptor ( EGFR) gene and to correlate EGFR mutations with patient clinical features. Methods One hundred lung adenocarcinoma cases were collected from June to December in 2015, at the First Affiliated Hospital of Xinjiang Medical University.Of the 100 lung adenocarcinoma samples, 43 were male and 57 were female.The age was from 40 to 88 years old, and the average age was 66 years. One hundred lung adenocarcinoma cases were divided equally into two groups. Mutation analysis of EGFR gene by real-time PCR was performed using biopsied tissue and paired blood samples in one group (n=50) and using pleural effusion and paired blood samples in the other group ( n=50). Results The mutation rate of EGFR gene in biopsy samples was 54% ( 27/50) , higher than that of blood samples (46%, 23/50), but without statistical differences (χ2=0.640, P=0.424). In contrast, mutation rate of EGFR gene in pleural effusion samples ( 42%, 21/50) was higher than that of blood samples ( 34%, 17/50), but without statistical differences(χ2 =0.679,P=0.409). Two patients had EGFR mutation detected in paired blood samples but not in the corresponding biopsy samples, and four patients had EGFR mutation detected in pleural effusion samples but not in their paired blood samples. The mean progression-free survival of patients with detectable EGFR mutation were 9.5 months ( tissue samples), 8.6 months (pleural effusion) and 8.5 months ( blood). However, there was no statistical difference. Conclusions Blood samples may be used to assess EGFR mutations for patients with lung adenocarcinoma. However, further studies are needed to improve the sensitivity and accuracy in the detection of EGFR mutations using blood samples.