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一例具有相互排斥突变的非小细胞肺癌病例

A Case of Non-Small Cell Lung Cancer with Mutually Exclusive and Mutations.

作者信息

Tushir Abhimanyu, Akhtar Israh, Seth Anjali

机构信息

Department of Pathology and Laboratory Medicine, Temple University Hospital, Philadelphia, PA 19140, USA.

出版信息

Curr Issues Mol Biol. 2025 Jan 20;47(1):66. doi: 10.3390/cimb47010066.

Abstract

Historically, and mutations were believed to be mutually exclusive. However, over the past few years, there have been emerging case reports showing the co-existence of both mutations in a single case. The majority of these co-occurring alterations were detected in samples collected from patients with resistance to tyrosine kinase inhibitor (TKI) treatment, indicating a potential functional role in driving resistance to therapy. These co-occurring tumor genomic alterations are not necessarily mutually exclusive, and evidence suggests that multiple clonal and sub-clonal cancer cell populations can co-exist and contribute to TKI resistance. We have reported such a case of concomitant and mutation in a 64-year-old female. This case highlights the importance of continuous molecular testing in managing NSCLC, especially in cases with rare mutation profiles. The emergence of new mutations during treatment can significantly impact the course of therapy and patient outcomes. In this case, the detection of both and mutations guided the selection of an appropriate targeted therapeutic strategy, including the use of Amivantamab.

摘要

从历史上看,[具体突变名称1]和[具体突变名称2]被认为是相互排斥的。然而,在过去几年中,不断有病例报告显示在单个病例中这两种突变同时存在。这些共发生的改变大多在从对酪氨酸激酶抑制剂(TKI)治疗耐药的患者采集的样本中检测到,表明其在驱动治疗耐药方面可能具有功能作用。这些共发生的肿瘤基因组改变不一定相互排斥,有证据表明多个克隆性和亚克隆性癌细胞群体可以共存并导致TKI耐药。我们报告了一例64岁女性同时存在[具体突变名称1]和[具体突变名称2]的病例。该病例突出了在管理非小细胞肺癌(NSCLC)时持续进行分子检测的重要性,特别是在具有罕见突变谱的病例中。治疗期间新突变的出现会显著影响治疗进程和患者预后。在本病例中,[具体突变名称1]和[具体突变名称2]两种突变的检测指导了适当靶向治疗策略的选择,包括使用阿米万他单抗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ff6/11763680/c60ca03a5ff5/cimb-47-00066-g001.jpg

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