非小细胞肺癌中表皮生长因子受体基因突变ADx-ARMS分析及其与临床病理特征的相关性

目的:回顾性分析非小细胞肺癌(NSCLC)中采用ADx-ARMS法检测的表皮生长因子受体(EGFR)的基因突变率、突变分布特征及其与临床病理特征的相关性。方法:收集NSCLC标本共139例，其中包括手术切除样本 83 例、穿刺活检样本27 例、胸腔积液样本 18例及血液样本11例。所有样本均采用ADx-ARMS法检测EGFR基因酪氨酸激酶编码区第19至21号外显子的突变。 结果:在139例NSCLC标本中共检测出EGFR基因突变53例，突变率为38.1%；第19至21号外显子的突变率分别为43.4%(23/53)、0(0/53) 和56.6%(30/53)；年龄大于等于中位年龄(60岁)与小于中位年龄的患者EGFR基因突变率分别为35.6%(26/73) 和40.9%(27/66)，差异无统计学意义(P>0.05)；女性患者中EGFR基因突变率(49.0%，25/51) 高于男性患者基因突变率(31.8%，28/88，P<0.05)；腺癌中的基因突变率(41.8%，46/110)显著高于鳞癌(15.0%，3/20，P<0.01)，而与未能分型的患者(37.5%，3/8)差异无统计学意义(P>0.05)。在手术切除、穿刺活检、胸腔积液以及血液样本中EGFR基因突变检出率分别为42.2%(35/83)、37.0%(10/27)、38.9%(7/18)和9.1%(1/11)。 结论:ADx-ARMS法是检测NSCLC中EGFR基因突变的快速有效方法，但不能检测未知突变类型。EGFR基因的总突变率与年龄无显著相关性；EGFR基因突变在女性和腺癌中多见；EGFR基因突变检出率与样本类型密切相关，对无法取得切除样本的患者，穿刺活检及胸腔积液样本是检测EGFR基因突变的有效样本。

Detection of epidermal growth factor mutations in non -small cell lung cancer by ADx -ARMS and correlations with clinicopathological characteristics

Objective:To retrospectively analyze epidermal growth factor receptor(EGFR)gene mutation rates and distribution characteristics in Chinese patients with non -small cell lung cancer by ADx -ARMS.Methods:For EG-FR gene mutation analysis,we obtained 139 clinical samples,including 83 surgical specimens,27 small needle aspira-tion biopsies,18 pleural effusion specimens and 11 blood samples.All samples were used ADx -ARMS method to de-tect tyrosine kinase domain cording region involving exon 19 through 21.Results:Among 139 samples,53(38.1%) mutations were detected.The percentage of mutations involving exon 19 to 21 were 43.4%(23 /53),0(0 /53)and 56.6%(30 /53)respectively.Mutation rate in patients over median age 60 was 35.6%(26 /73)and 40.9%(27 /66) in younger patients respectively,which showed no significantly difference.EGFR mutation rate was significantly higher in female patients(49.0%,25 /51)than in male patients(31.8%,28 /88,P <0.05).Mutation rate in adenocarcino-ma(41.8%,46 /110)was remarkably higher than in squamous cell carcinomas(15.0%,3 /20,P <0.01),while the unknown histological type shared a similar mutation rate to that of adenocarcinoma(37.5%,3 /8,P >0.05).In surgi-cal specimens,small needle aspiration biopsies,pleural effusion specimens and blood samples,the EGFR mutation de-tection rates were 42.2%(35 /83),37.0%(10 /27),38.9%(7 /18)and 9.1%(1 /11),respectively.Conclusion:Except for unknown EGFR mutations,ADx -ARMS is a reliable and effective method for EGFR analysis in NSCLC. There was no significant correlation between EGFR mutation distribution and age.EGFR mutation is frequently present in female patients and patients with adenocarcinoma NSCLC.Detection rate of EGFR mutation was associated with the sample types.Small needle aspiration biopsies and pleural effusion specimens are valuable materials for detecting EG-FR mutations in NSCLC.