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一例携带EML4-ALK融合突变的复发性小细胞肺癌对恩沙替尼持续应答:病例报告

A Recurrent Small Cell Lung Carcinoma Harboring an EML4-ALK Fusion Mutation with Sustained Response to Ensartinib: A Case Report.

作者信息

Jiang Hao, Zhu Tengfei, Chang Zenghao, Liu Ziyu, Ou Wei, Wang Siyu

机构信息

Department of Thoracic Surgery, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, No. 651 Dongfeng East Road, Yuexiu District, Guangzhou 510060, China.

出版信息

Curr Oncol. 2025 Mar 13;32(3):163. doi: 10.3390/curroncol32030163.

Abstract

Small cell lung cancer (SCLC) is an aggressive neuroendocrine tumor. Lung cancer patients with ALK and EML4 fusions respond significantly to ALK inhibitors. The EML4-ALK fusion gene mutation is the result of an inversion of chromosome 2, which juxtaposes the 5 end of the EML4 gene with the 3 end of the ALK gene. In SCLC, the frequency of fusion genes is very low, and to the best of our knowledge, only four cases of ALK fusion gene mutations in SCLC have been reported. In this report, we describe the treatment of a 74-year-old female patient with SCLC who developed recurrence of hilar lymph node metastasis three years after surgical resection. Postoperative NGS showed that this patient is a SCLC patient harboring a rare EML4-ALK fusion mutation, and a satisfactory 43-month overall survival (OS) was achieved after treatment with ensartinib targeting the EML4-ALK fusion gene mutation. The ALK-TKI may be a new treatment option for these patients. This article provides a therapeutic reference.

摘要

小细胞肺癌(SCLC)是一种侵袭性神经内分泌肿瘤。携带ALK和EML4融合的肺癌患者对ALK抑制剂有显著反应。EML4-ALK融合基因突变是2号染色体倒位的结果,该倒位使EML4基因的5′端与ALK基因的3′端并列。在SCLC中,融合基因的频率非常低,据我们所知,SCLC中仅报道了4例ALK融合基因突变。在本报告中,我们描述了一名74岁女性SCLC患者的治疗情况,该患者在手术切除三年后出现肺门淋巴结转移复发。术后NGS显示该患者是一名携带罕见EML4-ALK融合突变的SCLC患者,在使用恩沙替尼靶向EML4-ALK融合基因突变治疗后,获得了令人满意的43个月总生存期(OS)。ALK-TKI可能是这些患者的一种新的治疗选择。本文提供了治疗参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e29/11941435/ac00734eebbe/curroncol-32-00163-g001.jpg

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