EGFR G719A突变合并LMNA-NTRK1融合变异的肺腺癌1例病例报道  

A Case Report of Lung Adenocarcinoma with EGFR G719A Mutation and LMNA-NTRK1 Fusion

作　　者：宋诗淇 杨雅娴 罗伟全 梁粤雅 李琪 卓同旭 熊威斌 黄剑 Shiqi SONG;Yaxian YANG;Weiquan LUO;Yueya LIANG;Qi LI;Tongxu ZHUO;Weibin XIONG;Jian HUANG(Department of Pathological Diagnosis and Research Center,the Affiliated Hospital of Guangdong Medical University,Zhanjiang 524001,China;Guangzhou Huayin Health Medical Group Co.,Ltd,Guangzhou 510730,China;Department of Pathology,Maternal and Child Health Hospital of Zhanjiang City,Zhanjiang 524000,China)

机构地区：[1]广东医科大学附属医院病理诊断与研究中心,湛江524001 [2]广州华银康医疗集团股份有限公司,广州510730 [3]湛江市妇幼保健院病理科,湛江524000

出　　处：《中国肺癌杂志》2025年第1期75-80,共6页Chinese Journal of Lung Cancer

摘　　要：神经营养受体酪氨酸激酶(neurotrophic receptor tyrosine kinase, NTRK)的融合变异是多种成人和儿科恶性实体瘤的致癌驱动因素,如乳腺癌、唾液腺癌以及婴儿纤维肉瘤等。NTRK1/2/3的基因重排导致原肌球蛋白受体激酶(tropomyosin receptor kinase, TRK)结构域的组成型激活,表达的融合蛋白驱动肿瘤生长和存活。在非小细胞肺癌(non-small cell lung cancer, NSCLC)中,NTRK融合发生的频率为0.1%-1%。表皮生长因子受体(epidermal growth factor receptor, EGFR)在NSCLC中为常见突变,但EGFR G719A突变发生频率较低(约2%),且EGFR突变通常和NTRK融合变异互斥。本文首次报道1例原发性肺腺癌组织中同时伴有EGFR G719A突变和LMNA-NTRK1融合变异的罕见病例,并通过文献复习探讨NTRK融合变异在NSCLC中的作用以及与EGFR突变之间的关系,以提高对NTRK融合变异NSCLC的认识。Fusion variations of neurotrophic receptor tyrosine kinase(NTRK)are oncogenic drivers in various sol-id tumors such as breast cancer,salivary gland carcinoma,infant fibrosarcoma,etc.Gene rearrangements involving NTRK1/2/3 lead to constitutive activation of the tropomyosin receptor kinase(TRK)domain,and the expressed fusion proteins drive tumor growth and survival.NTRK fusions are estimated to occur at a frequency of approximately 0.%to%in non-small cell lung cancer(NSCLC).Epidermal growth factor receptor(EGFR)mutations are prevalent in NSCLC,but the frequency of EGFR G79A mutation is relatively low(about 2%),and EGFR mutations are typically mutually exclusive with NTRK fusion variants.The study presented the first documented case of lung adenocarcinoma harboring both EGFR G79A mutation and LMNA-NTRK1 fusion.A review of the literature was conducted to elucidate the role of NTRK fusion mutations in NSCLC and their relationship with EGFR mutations,aiming to enhance the understanding of NTRK fusion mutations in NSCLC.

关 键 词：肺肿瘤 NSCLC EGFR突变 NTRK融合 

分 类 号：R734.2[医药卫生—肿瘤]