Nguyen Hung Van, Do Chi Huyen, Tran Bach Trung, Trinh Huy Le
Oncology Center, Hanoi Medical University Hospital, Hanoi 100000, Vietnam.
Department of Oncology, Hanoi Medical University, Hanoi 100000, Vietnam.
Oncol Lett. 2025 Jun 18;30(2):398. doi: 10.3892/ol.2025.15144. eCollection 2025 Aug.
In non-small cell lung cancer, the two main genetic alterations are epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements. The presence of both mutations in a single patient or genetic mutation discrepancies between primary tumors and metastases is uncommon. Therefore, at present, there are no guidelines on the optimal approach and treatment for this group of patients. This report presents the case of a 58-year-old woman with EGFR-mutated regional lung cancer who underwent surgery followed by adjuvant chemotherapy. Upon disease recurrence, the response to EGFR-tyrosine kinase inhibitor therapy was poor. Further analysis of metastatic pleural fluid revealed an ALK mutation. The patient was then treated with anti-ALK therapy, resulting in long-term disease stability. In conclusion, the coexistence of EGFR and ALK mutations in lung cancer is rare, likely due to tumor heterogeneity and prior treatments. Resistance to targeted therapies can develop through new molecular alterations during disease progression. Re-biopsies at progression are crucial for detecting these changes and optimizing treatment based on the updated molecular profile.
在非小细胞肺癌中,两个主要的基因改变是表皮生长因子受体(EGFR)突变和间变性淋巴瘤激酶(ALK)重排。单一患者同时存在这两种突变或原发性肿瘤与转移灶之间存在基因突变差异的情况并不常见。因此,目前对于这类患者的最佳治疗方法和策略尚无指南可循。本报告介绍了一例58岁的女性患者,患有EGFR突变的局部肺癌,接受了手术及辅助化疗。疾病复发后,患者对EGFR酪氨酸激酶抑制剂治疗反应不佳。对转移性胸腔积液的进一步分析发现了ALK突变。随后该患者接受了抗ALK治疗,实现了疾病的长期稳定。总之,肺癌中EGFR和ALK突变共存的情况罕见,这可能归因于肿瘤异质性和既往治疗。在疾病进展过程中,新的分子改变可能导致对靶向治疗产生耐药性。疾病进展时再次活检对于检测这些变化并根据更新的分子特征优化治疗至关重要。