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一名肺腺癌患者中罕见的表皮生长因子受体T790M/cis-C797S/L718Q复合突变,该患者未从阿法替尼和贝伐单抗联合治疗中获得任何益处。

A rare epidermal growth factor receptor T790M/cis-C797S/L718Q compound mutation in a lung adenocarcinoma patient who did not derive any benefit from combination therapy with afatinib and bevacizumab.

作者信息

Meng Xiaopeng, Liu Jingyi, Wu Xiaohui, Peng Pei

机构信息

Department of Cardiothoracic Surgery, Shaoxing Second Hospital, Shaoxing, Zhejiang, China.

Shanghai Zhangjiang Institute of Medical Innovation, Shanghai Biotecan Pharmaceuticals Co., Ltd., Shanghai, China.

出版信息

SAGE Open Med Case Rep. 2025 Feb 17;13:2050313X251319381. doi: 10.1177/2050313X251319381. eCollection 2025.

Abstract

The most common mutations in epidermal growth factor receptor () are exon 19 deletions and exon 21 L858R mutations, both of which respond effectively to tyrosine kinase inhibitors. However, the efficacy of tyrosine kinase inhibitors against rare mutations remains controversial. Many patients eventually develop resistance to tyrosine kinase inhibitors. Here, we encountered the case of a 62-year-old male with lung adenocarcinoma and a history of hypertension, who harbored a rare EGFR L858R/T790M/cis-C797S/L718Q compound mutation and showed resistance to osimertinib. The patient showed a partial response to treatment with a combination of afatinib and bevacizumab lasting 2 months. Although this case did not demonstrate a clear benefit from dual therapy with afatinib and bevacizumab, it provides a valuable therapeutic reference for patients with rare compound mutations and offers insights for future studies.

摘要

表皮生长因子受体(EGFR)最常见的突变是19外显子缺失和21外显子L858R突变,这两种突变对EGFR酪氨酸激酶抑制剂均有有效反应。然而,EGFR酪氨酸激酶抑制剂对罕见EGFR突变的疗效仍存在争议。许多患者最终会对EGFR酪氨酸激酶抑制剂产生耐药性。在此,我们遇到一例62岁男性肺腺癌患者,有高血压病史,其携带罕见的EGFR L858R/T790M/cis-C797S/L718Q复合突变,对奥希替尼耐药。该患者对阿法替尼和贝伐单抗联合治疗有部分反应,持续2个月。虽然该病例未显示阿法替尼和贝伐单抗联合治疗有明确益处,但为罕见复合EGFR突变患者提供了有价值的治疗参考,并为未来研究提供了思路。

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