A Novel EGFR Germline Mutation in Lung Adenocarcinoma: Case Report and Literature Review

IF 3.3 3区 医学 Q2 ONCOLOGY Clinical lung cancer Pub Date : 2024-07-01 DOI:10.1016/j.cllc.2024.04.009
Parth Sharma , Himil Mahadevia , Sreekanth Donepudi , Lara Kujtan , Beth Gustafson , Ben Ponvilawan , Ammar Al-Obaidi , Janakiraman Subramanian , Dhruv Bansal
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Abstract

  • While most molecular testing focuses on somatic alterations in patients with non-small cell lung cancer, evidence is growing regarding the presence of germline lung cancer mutations. The most common lung cancer germline mutation is EGFR T790M.

  • Herein, we describe an EGFR germline mutation not previously reported outside of Asia, T725M.

  • Identification of germline lung cancer mutations could help to identify new therapeutic targets. Furthermore, further characterization of these mutations can aid in the development of screening and surveillance guidelines for patients with hereditary lung cancer, which currently do not exist.

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肺腺癌中的新型表皮生长因子受体基因突变:病例报告和文献综述
-虽然大多数分子检测都侧重于非小细胞肺癌患者的体细胞改变,但有关肺癌种系突变的证据也在不断增加。最常见的肺癌种系突变是表皮生长因子受体(EGFR)T790M.-在本文中,我们描述了一种以前在亚洲以外地区从未报道过的表皮生长因子受体(EGFR)种系突变,即 T725M.-确定肺癌种系突变有助于确定新的治疗靶点。此外,进一步确定这些突变的特征有助于为遗传性肺癌患者制定筛查和监测指南,而目前还没有这方面的指南。
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来源期刊
Clinical lung cancer
Clinical lung cancer 医学-肿瘤学
CiteScore
7.00
自引率
2.80%
发文量
159
审稿时长
24 days
期刊介绍: Clinical Lung Cancer is a peer-reviewed bimonthly journal that publishes original articles describing various aspects of clinical and translational research of lung cancer. Clinical Lung Cancer is devoted to articles on detection, diagnosis, prevention, and treatment of lung cancer. The main emphasis is on recent scientific developments in all areas related to lung cancer. Specific areas of interest include clinical research and mechanistic approaches; drug sensitivity and resistance; gene and antisense therapy; pathology, markers, and prognostic indicators; chemoprevention strategies; multimodality therapy; and integration of various approaches.
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