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肺腺癌中EGFR和ALK融合基因突变的同时存在:一例报告并文献复习

Concomitant Presence of EGFR and ALK Fusion Gene Mutation in Adenocarcinoma of Lung: A Case Report and Review of the Literature.

作者信息

Thumallapally Nishitha, Yu Hana, Farhan Mohammad, Ibrahim Uroosa, Odiami Maricel

机构信息

1 Department of Medicine, Staten Island University Hospital, Staten Island, NY, USA.

2 Department of Hematology/Oncology, Staten Island University Hospital, Staten Island, NY, USA.

出版信息

J Pharm Pract. 2018 Apr;31(2):244-248. doi: 10.1177/0897190017704751. Epub 2017 Apr 25.

DOI:10.1177/0897190017704751
PMID:28438075
Abstract

Empirical evidence has long suggested that oncogenic driver mutations in non-small-cell lung cancer are mutually independent. However, recent studies reported in pertinent literature reveal that concomitant epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangement can occur in a subset of patients with NSCLC. In order to shed further light on this issue, we report a case of adenocarcinoma of lung harboring both EGFR mutation in exon 21 (L861Q) and ALK rearrangement. This allows us to speculate on likely molecular mechanisms underlying this uncommon phenomenon, while also offering some practical guidelines on the therapeutic options that could benefit patients diagnosed with this dual-positive tumor.

摘要

长期以来,经验证据表明非小细胞肺癌中的致癌驱动基因突变是相互独立的。然而,相关文献中最近报道的研究显示,在一部分非小细胞肺癌患者中可同时出现表皮生长因子受体(EGFR)突变和间变性淋巴瘤激酶(ALK)重排。为了进一步阐明这一问题,我们报告了1例同时存在第21外显子EGFR突变(L861Q)和ALK重排的肺腺癌病例。这使我们能够推测这一罕见现象背后可能的分子机制,同时也为可能使诊断为这种双阳性肿瘤的患者受益的治疗选择提供一些实用指南。

相似文献

1
Concomitant Presence of EGFR and ALK Fusion Gene Mutation in Adenocarcinoma of Lung: A Case Report and Review of the Literature.肺腺癌中EGFR和ALK融合基因突变的同时存在:一例报告并文献复习
J Pharm Pract. 2018 Apr;31(2):244-248. doi: 10.1177/0897190017704751. Epub 2017 Apr 25.
2
Concomitant EGFR mutation and ALK rearrangement in lung adenocarcinoma is more frequent than expected: report of a case and review of the literature with demonstration of genes alteration into the same tumor cells.肺腺癌中表皮生长因子受体(EGFR)突变与间变性淋巴瘤激酶(ALK)重排同时存在的情况比预期更为常见:1例报告及文献复习,并证实同一肿瘤细胞中存在基因改变
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引用本文的文献

1
[Non-small Cell Lung Cancer with Metachronous Mutations of EGFR and ALK Genes: 
A Case Report and Literature Review].[伴有EGFR和ALK基因异时性突变的非小细胞肺癌:病例报告及文献综述]
Zhongguo Fei Ai Za Zhi. 2024 Jul 20;27(7):559-564. doi: 10.3779/j.issn.1009-3419.2024.106.15.
2
[Advances in Double Mutations of EGFR and ALK Gene in Non-small Cell Lung Cancer].[非小细胞肺癌中表皮生长因子受体(EGFR)和间变性淋巴瘤激酶(ALK)基因双突变的研究进展]
Zhongguo Fei Ai Za Zhi. 2018 Sep 20;21(9):686-691. doi: 10.3779/j.issn.1009-3419.2018.09.07.
3
Synchronous Presence of , Driver Mutations Along With PD L1 Overexpression in a Resected Early Stage Non-Small Cell Lung Cancer: A Case Report and Review of Literature.
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World J Oncol. 2018 Apr;9(2):50-55. doi: 10.14740/wjon1090e. Epub 2018 May 1.
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Synchronous Pulmonary Neoplasms: A Chance Occurrence or is There More Than Meets the Eye?同步性肺肿瘤:偶然发生还是另有隐情?
Cureus. 2018 Feb 6;10(2):e2162. doi: 10.7759/cureus.2162.