Suppr超能文献

外显子19 L747P突变表现为对表皮生长因子受体酪氨酸激酶抑制剂的原发性耐药:一例报告

Exon 19 L747P mutation presented as a primary resistance to EGFR-TKI: a case report.

作者信息

Wang Yu-Ting, Ning Wei-Wei, Li Jing, Huang Jian-An

机构信息

Department of Respiratory Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215006, China.

出版信息

J Thorac Dis. 2016 Jul;8(7):E542-6. doi: 10.21037/jtd.2016.05.95.

Abstract

Active mutations of the EGFR gene have been proved to predict the activity of EGFR-TKI. The most common mutations are the exon 19 deletion and exon 21 point mutation, both of which are sensitive to EGFR-TKI. However, rare EGFR mutations or complex mutations still exist, and data of which are scarce and controversial. Their response to EGFR-TKI remains uncertain. We presented a patient diagnosed with stage IV lung adenocarcinoma who was found to have the EGFR mutation in exon 19 (L747P) before any treatment. The disease progressed 2 months after the chemotherapy containing cisplatin and pemetrexed, and erlotinib was administered, but there was no response found. This EGFR-TKI naïve patient failed to achieve the desired effect with the therapy of EGFR-TKI. L747P may be associated with primary resistance to EGFR-TKI in this case.

摘要

EGFR基因的活性突变已被证明可预测EGFR-TKI的活性。最常见的突变是19外显子缺失和21外显子点突变,这两种突变对EGFR-TKI均敏感。然而,罕见的EGFR突变或复杂突变仍然存在,其数据稀少且存在争议。它们对EGFR-TKI的反应仍不确定。我们报告了一名被诊断为IV期肺腺癌的患者,在任何治疗前发现其19外显子(L747P)存在EGFR突变。在接受含顺铂和培美曲塞的化疗2个月后疾病进展,随后给予厄洛替尼治疗,但未发现有反应。这名未接受过EGFR-TKI治疗的患者未能通过EGFR-TKI治疗达到预期效果。在这种情况下,L747P可能与对EGFR-TKI的原发性耐药有关。

相似文献

1
Exon 19 L747P mutation presented as a primary resistance to EGFR-TKI: a case report.
J Thorac Dis. 2016 Jul;8(7):E542-6. doi: 10.21037/jtd.2016.05.95.
3
Afatinib is effective in the treatment of lung adenocarcinoma with uncommon EGFR p.L747P and p.L747S mutations.
Lung Cancer. 2019 Jul;133:103-109. doi: 10.1016/j.lungcan.2019.05.019. Epub 2019 May 17.
5
Case Report: Dacomitinib is effective in lung adenocarcinoma with rare EGFR mutation L747P and brain metastases.
Front Oncol. 2022 Aug 9;12:863771. doi: 10.3389/fonc.2022.863771. eCollection 2022.
8
Mutation Profile of Resected -Mutated Lung Adenocarcinoma by Next-Generation Sequencing.
Oncologist. 2019 Oct;24(10):1368-1374. doi: 10.1634/theoncologist.2018-0567. Epub 2019 Mar 14.

引用本文的文献

1
Case of a rare EGFR mutation L identified using the lung cancer compact Panel™ leading to successful Afatinib treatment.
Respir Med Case Rep. 2025 Jul 5;57:102255. doi: 10.1016/j.rmcr.2025.102255. eCollection 2025.
5
Case Report: Dacomitinib is effective in lung adenocarcinoma with rare EGFR mutation L747P and brain metastases.
Front Oncol. 2022 Aug 9;12:863771. doi: 10.3389/fonc.2022.863771. eCollection 2022.
6
Non-small-cell lung cancer: how to manage -mutated disease.
Drugs Context. 2022 Aug 3;11. doi: 10.7573/dic.2022-4-1. eCollection 2022.

本文引用的文献

2
The impact of rare EGFR mutations on the treatment response of patients with non-small cell lung cancer.
Expert Rev Respir Med. 2015 Jun;9(3):241-4. doi: 10.1586/17476348.2015.1046439. Epub 2015 May 20.
6
Clinical outcomes in non-small cell lung cancers harboring different exon 19 deletions in EGFR.
Clin Cancer Res. 2012 Jun 15;18(12):3470-7. doi: 10.1158/1078-0432.CCR-11-2353. Epub 2012 Apr 17.
8
Effects of erlotinib in EGFR mutated non-small cell lung cancers with resistance to gefitinib.
Clin Cancer Res. 2008 Nov 1;14(21):7060-7. doi: 10.1158/1078-0432.CCR-08-1455.
10
BIM mediates EGFR tyrosine kinase inhibitor-induced apoptosis in lung cancers with oncogenic EGFR mutations.
PLoS Med. 2007 Oct;4(10):1669-79; discussion 1680. doi: 10.1371/journal.pmed.0040315.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验