RNA-based NGS检测EML4-ALK融合V1亚型肺腺癌1例  

A Case of EML4-ALK Fusion V1 Subtype Lung Adenocarcinoma Detected by RNA-based NGS

作　　者：徐悦 穆宁 刘梅 吴盛楠 马春华 Yue XU;Ning MU;Mei LIU;Shengnan WU;Chunhua MA(Department of Cancer Diagnosis and Treatment Center,Tianjin People's Hospital,Tianjin 300121,China)

机构地区：[1]天津市人民医院肿瘤诊疗中心,天津300121

出　　处：《中国肺癌杂志》2024年第6期480-484,共5页Chinese Journal of Lung Cancer

基　　金：天津市医学重点学科(专科)建设项目(No.TJYXZDXK-053B)资助。

摘　　要：肺癌是全球发病率和死亡率最高的恶性肿瘤。对于肺腺癌而言,识别特定的基因突变并给予相应靶向药物可大大提高患者的生存时间。其中,间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)融合发生在3%-7%的非小细胞肺癌(non-small cell lung cancer,NSCLC)中。在临床中,多种检测方法可应用于判断ALK融合状态,但存在检测结果假阴性可能。本文回顾性分析1例肺腺癌患者的诊治经过,经多种检测方式判断ALK融合状态,其中,免疫组化(immunohistochemistry,IHC)(Ventana D5F3)、基于RNA的下一代测序(RNA-based next-generation sequencing,RNA-based NGS)检测证实棘皮类微管关联蛋白样4(echinoderm microtubule associated protein like 4,EML4)-ALK融合阳性,而基于DNA的NGS(DNA-based NGS)检测为阴性。本文比较分析判断ALK融合的检测方法,以明确在不同临床案例中选择何种检测方式最准确、最简便,以便于指导后续治疗。Lung cancer is the malignant tumor with the highest incidence and mortality rate worldwide.For lung adenocarcinoma,identifying specific gene mutations,fusions,and giving corresponding targeted drugs can greatly improve the survival time of the patients.Among them,anaplastic lymphoma kinase(ALK)fusion occurs in 3%-7%of non-small cell lung cancer(NSCLC).In clinical practice,a variety of detection methods can be used to determine the ALK fusion status,but false negative test results are possible.This paper retrospectively analyzed the diagnosis and treatment of a patient with lung adenocarcinoma,judged the ALK fusion status by various detection methods.Among them,immunohistochemistry(IHC)(Ventana D5F3),RNA based next-generation sequencing(RNA-based NGS)confirmed positive echinoderm microtubule associated protein like 4(EML4)-ALK fusion,while DNA-based NGS was negative.This paper analyzed the detection methods of ALK fusion,in order to clarify which detection method is the most accurate and simple to choose in different clinical cases and guide the subsequent treatment.

关 键 词：肺肿瘤 间变性淋巴瘤激酶 基因融合 下一代测序 免疫组化 靶向治疗 

分 类 号：R734.2[医药卫生—肿瘤]