2394例肺腺癌患者EGFR及ALK驱动基因分析  

Analysis of EGFR and ALK oncogenic drivers in 2 394 patients with lung adenocarcinoma

作　　者：孔君 杨雪 孔辉 杨明夏[2] 解卫平 KONG Jun;YANG Xue;KONG Hui;YANG Mingxia;XIE Weiping(Department of Pulmonary and Critical Care Medicine,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029;Department of Respiratory Medicine,the Affiliated Changzhou NO.2 People’s Hospital of Nanjing Medical University,Changzhou 213003,China)

机构地区：[1]南京医科大学第一附属医院呼吸与危重症医学科,江苏南京210029 [2]南京医科大学附属常州市第二人民医院呼吸内科,江苏常州213003

出　　处：《南京医科大学学报（自然科学版）》2020年第5期675-680,719,共7页Journal of Nanjing Medical University(Natural Sciences)

基　　金：国家科技重大专项(2018ZX10722301-002);国家自然科学基金(81870054,81273571);江苏省卫生厅重点项目(H201601)。

摘　　要：目的:通过分析2394例肺腺癌患者表皮生长因子受体(epidermal growth factor receptor,EGFR)及间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)驱动基因,了解肺腺癌患者EGFR及ALK驱动基因的特征。方法:收集2014年1月—2019年4月2394例南京医科大学第一附属医院确诊并行EGFR及ALK检测的肺腺癌患者,分析其EGFR、ALK驱动基因特点,探讨EGFR/ALK状态与肺腺癌亚型的相关性。结果:59.7%(1429/2394)肺腺癌患者存在EGFR突变,高于全国平均水平(51.8%)、东南亚地区(51.4%);其中90%以上为常见突变,21L858R突变率(48.01%)最高,19Del突变率(43.32%)次之;约10%为非经典突变,包括18G719X、20ins及21L861Q等。ALK重排发生率为4.4%,低于全国平均水平(6.0%),以EML4-ALK融合最常见。不同类型标本EGFR突变率有差异,组织标本、细胞学标本及外周血标本的EGFR突变率分别为60.60%、51.20%及46.48%;肿瘤原发灶组织学标本中,手术切除、经皮肺穿刺及支气管镜活检的EGFR突变率分别为64.50%、59.25%及45.45%。EGFR突变更易表达在附壁状腺癌(79.7%)、乳头状腺癌(74.9%)及腺泡状腺癌(74.4%)中,较少见于实体状(58.9%)及浸润性黏液腺癌(28.9%);与其他亚型相比,实体状腺癌(8.6%)及浸润性黏液腺癌(13.3%)ALK重排发生率更高。结论:本研究EGFR突变率较高,21L858R和19Del最常见。手术切除标本EGFR突变率最高,且EGFR突变、ALK融合均与肺腺癌亚型有关。Objective:This study aims to analyze the characteristics of EGFR and ALK oncogenic drivers in 2394 patients with lung adenocarcinoma,improving clinicians’understanding of the oncogenic drivers characteristics of patients with lung adenocarcinoma in this study.Methods:From January 2014 to April 2019,2394 patients with lung adenocarcinoma diagnosed in our hospital with concurrent EGFR and ALK detection were collected,the characteristics of EGFR and ALK oncogenic drivers were analyzed,and the correlation between EGFR/ALK status and lung adenocarcinoma subtypes was discussed.Results:59.7%(1429/2394)patients with lung adenocarcinoma had EGFR mutation,which was higher than the national average(51.8%)and southeast Asia(51.4%).The mutation rate of 21 L858 R(48.01%)was the highest,followed by the mutation rate of 19 Del(43.32%).About 10%had rare mutations,including 18 G719 X,20 ins and 21 L861 Q.The incidence of ALK rearrangement was 4.4%,lower than the national average(6.0%),and EML4-ALK fusion was the most common.The EGFR mutation rates of different types of specimens were different.The EGFR mutation rates of tissue specimens,cytology specimens and peripheral blood specimens were 60.60%,51.20%and 46.48%,respectively.Among the primary tissue specimens,the EGFR mutation rates of surgical excision specimens,percutaneous lung puncture specimens and bronchoscopy specimens were 64.50%,59.25%and 45.45%,respectively.EGFR mutations were more likely to be expressed in lepidic adenocarcinoma(79.7%),papillary adenocarcinoma(74.9%)and acinar adenocarcinoma(74.4%),and were less common in solid adenocarcinoma(58.9%)and invasive mucinous adenocarcinoma(28.9%).ALK rearrangement rates were higher in solid adenocarcinoma(8.6%)and invasive mucinous adenocarcinoma(13.3%)than in other subtypes.Conclusion:EGFR mutation rate was higher in this study,21 L858 R and 19 Del were the most common.The highest rate of EGFR mutation was found in the surgical excision specimens,and both EGFR mutation and ALK fusion were associated with lung adenocarci

关 键 词：肺腺癌 NSCLC 驱动基因 EGFR ALK 腺癌亚型 

分 类 号：R734.2[医药卫生—肿瘤]