EGFR和ALK基因异时性突变非小细胞肺癌1例报告并文献复习  

Non-small Cell Lung Cancer with Metachronous Mutations of EGFR and ALK Genes:A Case Report and Literature Review

作　　者：孔晓艳 王明娟 汤巧云 孙梦雨 胡建军 Xiaoyan KONG;Mingjuan WANG;Qiaoyun TANG;Mengyu SUN;Jianjun HU(Department of Oncology,Nanjing Tongren Hospital,Nanjing 211102,China)

机构地区：[1]南京同仁医院肿瘤科,南京211102

出　　处：《中国肺癌杂志》2024年第7期559-564,共6页Chinese Journal of Lung Cancer

摘　　要：多原发肺癌(multiple primary lung cancer,MPLC)指患者有两个或两个以上原发病灶的肺癌,根据发生时间的不同分为同时性多原发肺癌(synchronous MPLC,sMPLC)和异时性多原发肺癌(metachronous MPLC,mMPLC)。近年来,MPLC的检出率逐渐升高,但由于肿瘤的异质性,在鉴别MPLC和肺内转移(intrapulmonary metastasis,IM)上存在许多争议,特别是病理组织学类型相同时。考虑到目前二者在临床治疗策略及预后上的显著差异,对于MPLC和IM的精确诊断是个体化精准治疗的关键。分子遗传学及测序技术为检测肿瘤的克隆性起源提供了有效的策略,其中非小细胞肺癌表皮生长因子受体(epidermal growth factor receptor,EGFR)突变与间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)融合突变共存的病例陆续有报道,但ALK基因突变后再发EGFR突变的案例未见提及。本文通过分子遗传学技术准确诊断并回顾性分析了1例ALK突变型男性肺腺癌患者术后4年再发EGFR突变合并多发转移的临床资料,并复习相关文献,以期加深对mMPLC的认识,为该类病例的诊疗提供临床借鉴。Multiple primary lung cancer(MPLC)refers to patients with two or more primary lesions of lung cancer.It can be divided into synchronous MPLC(sMPLC)and metachronous MPLC(mMPLC)based on the timing of occurrence.In recent years,the detection rate of MPLC has gradually increased.However,considerable controversy exists in distinguishing MPLC from intrapulmonary metastasis(IM),especially when the histopathological types are identical.Given the significant differences in treatment strategies and prognosis in clinical practice currently,accurate diagnosis of MPLC is cru-cial for personalized precision therapy.Molecular genetics and sequencing technologies offer effective strategies for assessing the clonal origin of tumors.There have been reports of coexisting mutations in the epidermal growth factor receptor(EGFR)and anaplastic lymphoma kinase(ALK)fusion genes in non-small cell lung cancer,but case of EGFR mutation following an ALK mutation has not been mentioned.This article accurately diagnoses and retrospectively analyzes the clinical data of a case of ALK mutant adenocarcinoma in a male patient who developed an EGFR mutation with multiple metastases four years after surgery,and reviews the relevant literature.This paper aims to deepen the understanding of mMPLC and provide clinical refer-ences for the diagnosis and treatment of such patients.

关 键 词：异时性多原发肺癌 肺内转移 EGFR ALK 

分 类 号：R734.2[医药卫生—肿瘤]