ALK基因融合合并EGFR 21-L858R基因突变的局部晚期肺腺癌1例
A Case Report of Locally Advanced Lung Adenocarcinoma with Concurrent ALK Gene Fusion and EGFR 21-L858R Mutation
投稿时间:2026-01-09  修订日期:2026-04-04
DOI:
中文关键词:  肺腺癌  间变性淋巴瘤激酶(ALK)  EGFR-L858R突变  共同突变  靶向治疗
英文关键词:Lung Adenocarcinoma  Anaplastic Lymphoma Kinase  EGFR-L858R Mutation  Coexisting Mutations  Targeted Therapy
基金项目:GFPT2介导HBP代谢重编程促进非小细胞肺癌奥希替尼耐药的作用及机制研究;ITGB4通过FAK信号通路上调糖蛋白表达促进KRAS突变肺腺癌进展的作用机制研究
作者单位邮编
李嘉敏 广东医科大学附属医院 524000
杨永浩 广东医科大学附属医院 
杨东晓 广东医科大学附属医院 
陈华林 广东医科大学附属医院 
吴华* 广东医科大学附属医院 524000
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中文摘要:
      肺癌的发病率与死亡率居首位,靶向治疗为基因突变肺癌患者的治疗带来福音。非小细胞肺癌中EGFR突变较为常见,而在非小细胞肺癌中EGFR突变合并ALK基因融合较为罕见,但随着分子诊断技术的进步,这类双突变病例的检出率逐渐增加,但其诊治策略仍面临诸多挑战。比如,针对此类肺腺癌ALK基因融合与EGFR基因双突变局晚期患者的治疗目前仍缺乏统一标准,其疗效预后也各不相同。广东医科大学附属医院曾于2023年05月收治局部晚期肺腺癌ALK基因融合合并EGFR 21-L858R基因突变的病例,现将其诊疗过程、疗效及预后情况结合文献复习,探讨ALK基因融合与EGFR基因双突变肺腺癌患者的临床诊治及预后方案,包括检测方法、治疗方案以及药物的选择,特别关注了靶向药物治疗顺序、耐药机制及最新的研究进展。揭示了双靶向治疗药物的选择与潜在挑战,并探索术后辅助治疗的最佳模式。为双突变肺腺癌患者的临床诊治提供参考依据,并展望未来的研究提供指导。
英文摘要:
      Lung cancer continues to have the highest incidence and mortality rates. Targeted therapy has brought hope for the treatment of lung cancer patients with gene mutations. EGFR mutations are relatively common in non-small cell lung cancer (NSCLC), while the co-occurrence of EGFR mutations and ALK gene fusion in NSCLC is rare. However, with advances in molecular diagnostic techniques, the detection rate of such dual mutations is gradually increasing, yet their diagnosis and treatment strategies still face numerous challenges. For instance, there is currently no unified standard for treating locally advanced lung adenocarcinoma patients with dual mutations in ALK gene fusion and EGFR, and their therapeutic outcomes and prognoses vary significantly. In May 2023, the Affiliated Hospital of Guangdong Medical University admitted a case of locally advanced lung adenocarcinoma with ALK gene fusion combined with EGFR 21-L858R mutation. This report presents the diagnosis, treatment process, efficacy, and prognosis of this case, supplemented by a literature review. It explores the clinical diagnosis, treatment, and prognostic approaches for lung adenocarcinoma patients with dual mutations in ALK gene fusion and EGFR, including detection methods, treatment options, and drug selection, with a particular focus on the sequence of targeted therapies, drug resistance mechanisms, and the latest research advancements. The study highlights the selection of dual-targeted therapies and potential challenges while investigating optimal models for postoperative adjuvant treatment. This work aims to provide insights into the clinical management of dual-mutation lung adenocarcinoma patients and offer guidance for future research.
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