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非小细胞肺癌患者的新型表皮生长因子受体(EGFR)突变(p.E746_S752delinsI、p.T751_I759delinsG、p.L747_S752delinsAA)及临床治疗策略:三例病例报告

The novel EGFR mutations (p.E746_S752delinsI, p.T751_I759delinsG, p.L747_S752delinsAA) in patients with non-small cell lung cancer and the clinical treatment strategy: three case reports.

作者信息

Meng Yamin, Li Xiaodong, Zhang Lei, Ye Minhua

机构信息

Key Laboratory of Digital Technology in Medical Diagnostics of Zhejiang Province, Hangzhou, Zhejiang, China.

Department of Cardiothoracic Surgery, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, Zhejiang, China.

出版信息

Front Oncol. 2023 Sep 19;13:1129629. doi: 10.3389/fonc.2023.1129629. eCollection 2023.

DOI:10.3389/fonc.2023.1129629
PMID:37795433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10546178/
Abstract

Epidermal growth factor receptor () is an established driver gene in non-small cell lung cancer (NSCLC) and the common Exon 19 del mutation (p.E746_A750 del) has exhibited remarkable responses for EGFR tyrosine kinase inhibitors (TKIs). However, there is even less comprehension of the treatment strategy in NSCLC patients harboring uncommon Exon 19 delins mutation. Here, we identified three novel Exon 19 mutations (p.E746_S752delinsI, p.T751_I759delinsG, p.L747_S752delinsAA), and described the clinical treatment process. To our knowledge, the p.E746_S752delinsI mutation of the patient with advanced NSCLC could benefit from the treatment with Icotinib. Otherwise, for the NSCLC patients with early-stage, one harboring p.T751_I759delinsG mutation had an excellent recovery and the other harboring p.L747_S752delinsAA experienced a relapse after receiving horacoscopic radical resection, which means the patients with different Exon 19 delins mutation might have different prognosis. Our study also demonstrated that next-generation sequencing (NGS) is a crucial tool in guiding clinical treatment decisions in NSCLC. Furthermore, the real incidence of these mutation is not known, the routinely use of NGS surely will increase the detection of EGFR del-ins respect to the old tools used to screen for EGFR mutations.

摘要

表皮生长因子受体(EGFR)是已确定的非小细胞肺癌(NSCLC)驱动基因,常见的外显子19缺失突变(p.E746_A750 del)对EGFR酪氨酸激酶抑制剂(TKIs)已显示出显著疗效。然而,对于携带罕见外显子19缺失插入突变的NSCLC患者的治疗策略了解更少。在此,我们鉴定出三种新的外显子19突变(p.E746_S752delinsI、p.T751_I759delinsG、p.L747_S752delinsAA),并描述了临床治疗过程。据我们所知,晚期NSCLC患者的p.E746_S752delinsI突变可从埃克替尼治疗中获益。否则,对于早期NSCLC患者,一名携带p.T751_I759delinsG突变的患者恢复良好,而另一名携带p.L747_S752delinsAA突变的患者在接受胸腔镜根治性切除术后复发,这意味着具有不同外显子19缺失插入突变的患者可能有不同的预后。我们的研究还表明下一代测序(NGS)是指导NSCLC临床治疗决策的关键工具。此外,这些突变的实际发生率尚不清楚,常规使用NGS肯定会相对于用于筛查EGFR突变的旧工具增加EGFR缺失插入的检测率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/123b/10546178/228accce2a1e/fonc-13-1129629-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/123b/10546178/452bb868288d/fonc-13-1129629-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/123b/10546178/fee17f3997bd/fonc-13-1129629-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/123b/10546178/228accce2a1e/fonc-13-1129629-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/123b/10546178/452bb868288d/fonc-13-1129629-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/123b/10546178/fee17f3997bd/fonc-13-1129629-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/123b/10546178/228accce2a1e/fonc-13-1129629-g003.jpg

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本文引用的文献

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Effective treatment with icotinib in advanced lung adenocarcinoma harboring rare EGFR mutation G719A/L833V: A case report.伊可替尼治疗罕见 EGFR 突变 G719A/L833V 型晚期肺腺癌患者的疗效:一例报告。
Medicine (Baltimore). 2022 Aug 19;101(33):e30080. doi: 10.1097/MD.0000000000030080.
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