病例报告:非小细胞肺癌中EGFR基因突变与ALK基因重排同时存在。
Case report: Concomitant EGFR mutation and ALK rearrangement in non-small cell lung cancer.
发表日期:2023
作者:
Haoyue Hu, Songtao Tan, Meng Xie, Peng Guo, Qiang Yu, Juan Xiao, Kangrui Zhao, Qiong Liao, Yi Wang
来源:
Frontiers in Pharmacology
摘要:
在非小细胞肺癌(NSCLC)中,表皮生长因子接受体(EGFR)突变和异位淋巴瘤激酶(ALK)重排是两个关键的遗传改变,通常被认为是互斥的。研究已报道在非小细胞肺癌患者中,同时存在EGFR/ALK共突变的情况很少见,其患病率范围为0.1%至1.6%。然而,这些患者的临床和病理特征尚未明确定义,对这种情况下的最佳治疗方法仍存在争议。在本报告中,我们报道了一例具有表皮生长因子接受体和异位淋巴瘤激酶突变以及高PD-L1表达的IV期肺腺癌病例。患者最初接受了表皮生长因子接受体酪氨酸激酶抑制剂(TKIs)治疗,但疾病进展。然而,在切换至ALK-TKI治疗和局部放疗后,病变显示出退缩现象。我们的报告还全面总结了具有同时存在表皮生长因子接受体突变和异位淋巴瘤激酶重排的非小细胞肺癌患者的临床和病理特征,以及治疗策略。版权所有 © 2023 胡、谭、谢、郭、余、肖、赵、廖和王。
In non-small cell lung cancer (NSCLC), two key genetic alterations, epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements, are commonly believed to be mutually exclusive. Studies have reported that concurrent EGFR/ALK co-mutation in non-small cell lung cancer patients is rare, with a prevalence ranging from 0.1% to 1.6%. However, the clinical and pathological characteristics of these patients are not well-defined, and the optimal treatment approach for such cases remains controversial. In this report, we present a case of stage IV lung adenocarcinoma with both epidermal growth factor receptor and anaplastic lymphoma kinase mutations, along with high PD-L1 expression. The patient initially received treatment with epidermal growth factor receptor tyrosine kinase inhibitors (TKIs), but the disease progressed. However, following a switch to ALK-TKI therapy and local radiotherapy, the lesion showed regression. Our report also provides a comprehensive summary of the clinical and pathological features, as well as treatment strategies, for non-small cell lung cancer patients with concurrent epidermal growth factor receptor mutation and anaplastic lymphoma kinase rearrangement.Copyright © 2023 Hu, Tan, Xie, Guo, Yu, Xiao, Zhao, Liao and Wang.