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晚期肺腺癌EGFR基因突变及临床特征分析
作者:张萍  武晓楠  聂鑫  艾斌  李琳  程刚 
单位:北京医院国家老年医学中心肿瘤内科  北京 100730 
关键词:肺肿瘤/诊断 肺肿瘤/病理学 基因扩增 突变 受体 表皮生长因子/遗传学 胸腔积液 腺癌/诊断 腺癌/病理学 回顾性研究 
365bet娱乐官网网址 DOI:R734.2;R730.4
出版年,卷(期):页码:2018,33(2):150-153
摘要:

目的 分析晚期肺腺癌患者表皮生长因子受体(epidermal growth factor receptor,EGFR)基因突变特点及其与临床特征的关系。方法 收集经组织病理学证实的406例初诊为晚期肺腺癌的患者的临床资料。患者均采用扩增阻滞突变系统(amplification refractory mutation system,ARMS)法检测EGFR基因突变情况。分析EGFR基因突变特点与患者性别、年龄、吸烟情况和初诊时转移部位等临床特征的关系,寻找预测EGFR基因突变的临床特征。结果 本组患者中,EGFR突变率为50.5%(205/406)。所有突变患者中,EGFR 19号外显子缺失突变占50.7%,21号外显子L858R点突变占43.4%,其他少见突变占5.9%。女性与男性患者的突变率分别为57.9%和43.5%(P=0.004)。不吸烟患者突变率为59.0%,有吸烟史患者为36.8%(P<0.01)。≤ 60岁与>60岁患者突变率分别为46.6%和53.1%(P=0.336)。初诊时,有脑转移患者突变率为61.9%,无脑转移患者为48.4%(P=0.049);有恶性胸腔积液和无恶性胸腔积液的患者突变率分别为57.1%和47.3%(P=0.041);有骨转移和无骨转移患者突变率分别为53.1%和49.0%(P=0.435)。多因素回归分析发现,吸烟、有脑转移和有恶性胸腔积液是肺腺癌患者EGFR突变的独立预测因素(均P<0.05)。结论 晚期肺腺癌患者EGFR基因突变率较高。吸烟、有脑转移和有恶性胸腔积液是肺腺癌患者EGFR突变的独立预测因素。

Objective To investigate the mutation status of epidermal growth factor receptor(EGFR) gene and its association with the clinical characteristics in patients with advanced lung adenocarcinoma.Methods A total of 406 patients with histologically confirmed advanced lung adenocarcinoma as initial diagnosis were enrolled in the study. EGFR mutation status was detected by amplification refractory mutation system (ARMS). The association between EGFR mutations and the clinical features of patients, including gender, age, smoking status and metastasis lesions, was analyzed. Results The incidence of EGFR mutations was 50.5% (205/406) in the study cohort. Among patients with mutant EGFR, exon 19 deletion accounted for 50.7%, exon 21 L858R point mutation represented 43.4%, and the rest 5.9% were uncommon EGFR mutations. The incidence of EGFR mutation was 57.9% and 43.8% in female and male patients, respectively (P=0.004). The EGFR mutation rate in non-smokers was statistically higher than that in smokers (59.0% vs 36.8%, P<0.01). Besides, the incidence of EGFR mutation was similar between patients ≤ 60 and >60 years old (46.6% vs 53.1%, P=0.336). In addition, at initial diagnosis, the patients with brain metastasis had statistically higher EGFR mutation incidence than those without brain metastasis (61.9% vs 48.4%,P=0.049); the EGFR mutation rate was higher in patients with malignant pleural effusion than those without malignant pleural effusion (57.1% vs 47.3%,P=0.041), but that was similar between patients with or without bone metastasis (53.1% vs 49.0%,P=0.435). Multivariate regression analysis suggested smoking status, brain metastasis and malignant pleural effusion as independent prediction factors of EGFR mutation in lung adenocarcinoma patients (all P<0.05). Conclusion The incidence of EGFR mutation is high in advanced lung adenocarcinoma. Smoking status, brain metastasis and malignant pleural effusion are independent prediction factors of EGFR mutation in lung adenocarcinoma patients.

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