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病例报告:非小细胞肺癌中的单基因检测与综合基因组分析——来自一家大型参考实验室的一系列结果分歧病例

Case report: Single gene testing and comprehensive genomic profiling in non-small cell lung cancer-a case series of divergent results from a large reference laboratory.

作者信息

Strickland Kyle C, Nesline Mary K, Previs Rebecca A, Ko Heidi, Cooper Maureen, Rushton Jennifer R, Wallen Zachary D, Pabla Sarabjot, Conroy Jeffrey M, Sausen Mark, Saini Kamal S, Cantini Luca, Jensen Taylor J, Caveney Brian J, Eisenberg Marcia, Severson Eric A, Ramkissoon Shakti

机构信息

Labcorp Oncology, Durham, NC, United States.

Duke University Medical Center, Duke Cancer Institute, Department of Pathology, Durham, NC, United States.

出版信息

Front Oncol. 2024 Oct 31;14:1445668. doi: 10.3389/fonc.2024.1445668. eCollection 2024.

DOI:10.3389/fonc.2024.1445668
PMID:39544293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11560755/
Abstract

Clinical management of non-small cell lung cancer (NSCLC) requires accurate identification of tumor-specific genetic alterations to inform treatment options. Historically, providers have relied on single-gene testing (SGT) for actionable variants due to a perception of cost-effectiveness and/or efficient turnaround time compared to next-generation sequencing (NGS). However, not all actionable variants may be evaluated through SGT modalities, and an SGT approach can exhaust valuable tissue needed for more comprehensive analyses. In contrast, comprehensive genomic profiling (CGP) tests employ NGS to sequence megabases of DNA and RNA to evaluate all relevant molecular alterations, providing a broader genetic profile to identify actionable alterations that SGT may not accurately or efficiently assess. Here, we briefly describe four cases from a large reference laboratory in which actionable alterations were identified by CGP but not SGT. The discussion highlights the utility and advantages of using CGP to provide complete and timely treatment options and clinical trial opportunities for patients with NSCLC.

摘要

非小细胞肺癌(NSCLC)的临床管理需要准确识别肿瘤特异性基因改变,以为治疗方案提供依据。从历史上看,由于与新一代测序(NGS)相比,认为单基因检测(SGT)具有成本效益和/或周转时间高效,医疗服务提供者一直依赖SGT来检测可操作的变异。然而,并非所有可操作的变异都可以通过SGT方法进行评估,而且SGT方法可能会耗尽用于更全面分析所需的宝贵组织。相比之下,综合基因组分析(CGP)测试采用NGS对数百万碱基的DNA和RNA进行测序,以评估所有相关的分子改变,提供更广泛的基因图谱,以识别SGT可能无法准确或有效评估的可操作改变。在此,我们简要描述了一家大型参考实验室的四个病例,其中通过CGP而非SGT识别出了可操作的改变。讨论强调了使用CGP为NSCLC患者提供完整和及时的治疗方案及临床试验机会的实用性和优势。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7bf/11560755/260a09fdff3c/fonc-14-1445668-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7bf/11560755/260a09fdff3c/fonc-14-1445668-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7bf/11560755/260a09fdff3c/fonc-14-1445668-g001.jpg

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本文引用的文献

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Oncol Ther. 2024 Jun;12(2):329-343. doi: 10.1007/s40487-024-00270-x. Epub 2024 Mar 19.
2
Editorial: Molecular genetic testing and emerging targeted therapies for non-small cell lung cancer.社论:非小细胞肺癌的分子基因检测与新兴靶向治疗
Front Oncol. 2023 Nov 23;13:1308525. doi: 10.3389/fonc.2023.1308525. eCollection 2023.
3
Tepotinib Treatment in Patients With MET Exon 14-Skipping Non-Small Cell Lung Cancer: Long-term Follow-up of the VISION Phase 2 Nonrandomized Clinical Trial.
特泊替尼治疗 MET 外显子 14 跳跃型非小细胞肺癌患者:VISION 期 2 非随机临床试验的长期随访。
JAMA Oncol. 2023 Sep 1;9(9):1260-1266. doi: 10.1001/jamaoncol.2023.1962.
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RNA Sequencing Identifies Novel NRG1 Fusions in Solid Tumors that Lack Co-Occurring Oncogenic Drivers.RNA 测序鉴定出缺乏共发生致癌驱动因素的实体瘤中的新型 NRG1 融合。
J Mol Diagn. 2023 Jul;25(7):454-466. doi: 10.1016/j.jmoldx.2023.03.011. Epub 2023 May 8.
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The toxicity associated with combining immune check point inhibitors with tyrosine kinase inhibitors in patients with non-small cell lung cancer.非小细胞肺癌患者中免疫检查点抑制剂与酪氨酸激酶抑制剂联合使用的毒性。
Front Oncol. 2023 Apr 14;13:1158417. doi: 10.3389/fonc.2023.1158417. eCollection 2023.
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Costs associated with the use of multigene panel tests in three solid tumor types and the impact on insurance premiums.多基因面板检测在三种实体瘤中的应用相关成本及对保险费率的影响。
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