病例报告:非小细胞肺癌中的单基因检测和综合基因组图谱分析--来自一家大型参考实验室的不同结果的病例系列。

IF 3.5 3区 医学 Q2 ONCOLOGY Frontiers in Oncology Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI:10.3389/fonc.2024.1445668
Kyle C Strickland, Mary K Nesline, Rebecca A Previs, Heidi Ko, Maureen Cooper, Jennifer R Rushton, Zachary D Wallen, Sarabjot Pabla, Jeffrey M Conroy, Mark Sausen, Kamal S Saini, Luca Cantini, Taylor J Jensen, Brian J Caveney, Marcia Eisenberg, Eric A Severson, Shakti Ramkissoon
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引用次数: 0

摘要

非小细胞肺癌(NSCLC)的临床治疗需要准确鉴定肿瘤特异性基因变异,以便为治疗方案提供依据。从历史上看,与新一代测序(NGS)相比,单基因检测(SGT)具有成本效益和/或周转时间短的优势,因此医疗服务提供者一直依赖于单基因检测(SGT)来鉴定可操作变异。然而,并非所有可操作变异都能通过 SGT 模式进行评估,而且 SGT 方法可能会耗尽更全面分析所需的宝贵组织。与此相反,综合基因组图谱(CGP)检测采用 NGS 对数百万个 DNA 和 RNA 进行测序,以评估所有相关的分子变异,从而提供更广泛的基因图谱,以确定 SGT 可能无法准确或有效评估的可操作变异。在此,我们简要介绍了一家大型参考实验室的四个病例,在这些病例中,CGP 发现了可操作的改变,而 SGT 则没有。讨论强调了使用 CGP 为 NSCLC 患者提供完整及时的治疗方案和临床试验机会的实用性和优势。
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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.

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.

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来源期刊
Frontiers in Oncology
Frontiers in Oncology Biochemistry, Genetics and Molecular Biology-Cancer Research
CiteScore
6.20
自引率
10.60%
发文量
6641
审稿时长
14 weeks
期刊介绍: Cancer Imaging and Diagnosis is dedicated to the publication of results from clinical and research studies applied to cancer diagnosis and treatment. The section aims to publish studies from the entire field of cancer imaging: results from routine use of clinical imaging in both radiology and nuclear medicine, results from clinical trials, experimental molecular imaging in humans and small animals, research on new contrast agents in CT, MRI, ultrasound, publication of new technical applications and processing algorithms to improve the standardization of quantitative imaging and image guided interventions for the diagnosis and treatment of cancer.
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