EML4-ALK融合基因阳性肺多原发神经内分泌癌1例  

A Case of Multiple Primary Pulmonary Neuroendocrine Carcinoma with EML4-ALK Fusion Gene Positive

作　　者：张尹 侯悦 张天明 王虹[1] Yin ZHANG;Yue HOU;Tianming ZHANG;Hong WANG(Department of Pulmonary and Critical Care Medicine,Lanzhou University Second Hospital,Lanzhou 730030,China)

机构地区：[1]兰州大学第二医院呼吸与危重症医学科,兰州730030

出　　处：《中国肺癌杂志》2025年第3期230-236,共7页Chinese Journal of Lung Cancer

基　　金：甘肃省自然科学基金项目(No.24JRRA371);甘肃省自然科学基金项目(No.25JRRA607);兰州大学第二医院萃英科技创新计划项目(No.CY2024-LC-B03)资助。

摘　　要：神经内分泌癌(neuroendocrine carcinoma,NEC)属于高增殖活性的神经内分泌肿瘤,具有侵袭性强、预后差等特点。本文报道1例既往健康无吸烟史的女性患者,其先后在不同侧肺叶发生NEC,苏木精-伊红(hematoxylin-eosin,HE)染色病理诊断分别为肺大细胞神经内分泌癌(large cell neuroendocrine carcinoma,LCNEC)与小细胞肺癌(small cell lung cancer,SCLC),分别对上述病变组织进行二代测序(next-generation sequencing,NGS),结果均存在棘皮动物微管相关蛋白4-间变性淋巴瘤激酶(echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase,EML4-ALK)融合突变,且患者在ALK-酪氨酸激酶抑制剂(tyrosine kinase inhibitors,TKIs)靶向治疗中取得了显著的治疗效果。Neuroendocrine carcinoma(NEC),a subtype of neuroendocrine tumors with high proliferative activity,is characterized by strong invasiveness and poor prognosis.This article reports a previously healthy female non-smoker who developed NEC occurring sequentially in different lobes of both lungs.The lesions were pathologically diagnosed by hematoxylin-eosin(HE)staining as large cell neuroendocrine carcinoma(LCNEC)and small cell lung cancer(SCLC),respectively.Next-generation sequencing(NGS)performed on both lesions revealed the presence of echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase(EML4-ALK)fusion mutations in both lesions.Notably,the patient achieved a significant therapeutic response to ALK-tyrosine kinase inhibitors(TKIs)targeted therapy.

关 键 词：肺肿瘤 肺大细胞神经内分泌癌 ALK突变 靶向治疗 

分 类 号：R73[医药卫生—肿瘤]