罕见EGFR L833V/H835L复合突变的肺腺癌患者1例及文献回顾  

A Rare Case of Lung Adenocarcinoma with EGFR L833V/H835L Co-mutation and Literature Review

作　　者：缪永恩 汪瑜堃 李萍[1] 谈敏[1] 文婷婷 王昌惠[1] 谢栓栓[1] Yongen MIAO;Yukun WANG;Ping LI;Min TAN;Tingting WEN;Changhui WANG;Shuanshuan XIE(Department of Respiratory and Critical Care Medicine,Shanghai Tenth People’s Hospital,Tongji University,Shanghai 200072,China;Tongji University School of Medicine,Shanghai 200092,China)

机构地区：[1]同济大学附属第十人民医院呼吸与危重症医学科,上海200072 [2]同济大学医学院,上海200092

出　　处：《中国肺癌杂志》2023年第10期795-800,共6页Chinese Journal of Lung Cancer

基　　金：上海市第十人民医院研究型医师人才项目(No.2023YJXYSC007)资助。

摘　　要：表皮生长因子受体(epidermal growth factor receptor,EGFR)突变是非小细胞肺癌(non-small cell lung cancer,NSCLC)发生发展过程中最常见的驱动基因,其中18-21号外显子的突变常见,尤其是19号外显子的缺失和21号外显子L858R点突变最为常见,但是EGFR L833V/H835L罕见基因复合突变的发生率非常低,患者数量很少,相关临床数据和治疗方法的证据也不足。部分EGFR-酪氨酸激酶抑制剂(EGFR-tyrosine kinase inhibitors,EGFR-TKIs)在治疗伴有罕见基因突变的肺癌患者方面同样具有良好疗效。本文报道了1例携带EGFR L833V/H835L罕见基因复合突变的NSCLC患者,在给予阿法替尼治疗5个月后,计算机断层扫描(computed tomography,CT)显示肺部病灶缩小,患者对阿法替尼联合安罗替尼治疗反应良好。同时,我们还对以往报道的EGFR L833V/H835L罕见基因复合突变的NSCLC患者进行了整理,总结了该类患者的特点及应用不同种类EGFR-TKIs治疗的效果。Epidermal growth factor receptor(EGFR)mutations are the most common driver genes in the development of non-small cell lung cancer(NSCLC),of which mutations in exons 18-21 are frequent,especially the loss of exon 19 and exon 21 L858R mutation are the most frequent.Other rare gene mutations are rare.Simultaneous occurrence of two or more rare EGFR mutations are extremely rare in lung cancer,and the incidence of EGFR L833V/H835L rare gene compound mutations is very low,and there is little clinical data and evidence of relevant treatment methods.Some EGFR-tyrosine kinase inhibitors(EGFR-TKIs)are effective in treating lung cancer patients with rare gene mutations.In this article,we reported a case of NSCLC patient with a rare gene compound mutation EGFR L833V/H835L,who responded to Afatinib in combination with Anilotinib treatment well after 5 months of treatment,and computed tomography(CT)showed shrinkage of lung lesions.Meanwhile,we also compiled previously reported NSCLC patients with EGFR L833V/H835L rare gene compound mutation and summarized the characteristics of this group of patients and the effect of applying different kinds of EGFR-TKIs treatment.

关 键 词：肺肿瘤 表皮生长因子受体 复合突变 L833V/H835L 阿法替尼 

分 类 号：R734.2[医药卫生—肿瘤]