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精准肿瘤学平台:癌症治疗中基因组数据库利用的实用策略。

Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment.

作者信息

Gazola Antonia A, Lautert-Dutra William, Archangelo Leticia Frohlich, Reis Rodolfo B Dos, Squire Jeremy A

机构信息

School of Medicine, Pontifical Catholic University of Rio Grande do Sul - PUCRS, Av. Ipiranga, 668, Porto Alegre, RS, 90619-900, Brazil.

Department of Genetics, Medical School of Ribeirao Preto, University of Sao Paulo - USP, Ribeirao Preto, SP, 14049-900, Brazil.

出版信息

Mol Cytogenet. 2024 Nov 14;17(1):28. doi: 10.1186/s13039-024-00698-w.

Abstract

In recent years, the expansion of molecularly targeted cancer therapies has significantly advanced precision oncology. Parallel developments in next-generation sequencing (NGS) technologies have also improved precision oncology applications, making genomic analysis of tumors more affordable and accessible. Targeted NGS panels now enable the rapid identification of diverse actionable mutations, requiring clinicians to efficiently assess the predictive value of cancer biomarkers for specific treatments. The urgency for timely and accurate decision-making in oncology emphasizes the importance of reliable precision oncology software. Online clinical decision-making tools and associated cancer databases have been designed by consolidating genomic data into standardized, accessible formats. These new platforms are highly integrated and crucial for identifying actionable somatic genomic biomarkers essential for tumor survival, determining corresponding drug targets, and selecting appropriate treatments based on the mutational profile of each patient's tumor. To help oncologists and translational cancer researchers unfamiliar with these tools, we review the utility, accuracy, and comprehensiveness of several commonly used precision medicine software options currently available. Our analysis categorized selected genomic databases based on their primary content, utility, and how well they provide practical guidance for interpreting somatic biomarker data. We identified several comprehensive, mostly open-access platforms that are easy to use for genetic biomarker searches, each with unique features and limitations. Among the precision oncology tools we evaluated, we found MyCancerGenome and OncoKB to be the first choice, offering comprehensive, accurate up-to-date information on the clinical significance of somatic mutations. To illustrate the application of these precision oncology tools in clinical settings, we evaluated three case studies to see how use of the platforms could have influenced treatment planning. Most of the precision oncology software evaluated could be easily streamlined into clinical workflows to provide updated information on approved drugs and clinical trials related the actionable mutations detected. Some platforms were very intuitive and easy to use, while others, often developed in smaller academic settings, were more difficult to navigate and may not be updated consistently. Future enhancements, incorporating artificial intelligence algorithms, are likely to improve integration of the platforms with diverse big data sources, enabling more accurate predictions of potential therapeutic responses.

摘要

近年来,分子靶向癌症治疗的扩展显著推动了精准肿瘤学的发展。下一代测序(NGS)技术的同步发展也改进了精准肿瘤学应用,使肿瘤的基因组分析更加经济实惠且易于获取。靶向NGS检测板现在能够快速识别各种可操作的突变,这就要求临床医生有效地评估癌症生物标志物对特定治疗的预测价值。肿瘤学中及时准确决策的紧迫性凸显了可靠的精准肿瘤学软件的重要性。通过将基因组数据整合为标准化、可访问的格式,设计了在线临床决策工具和相关的癌症数据库。这些新平台高度集成,对于识别肿瘤生存所必需的可操作体细胞基因组生物标志物、确定相应的药物靶点以及根据每个患者肿瘤的突变谱选择合适的治疗方法至关重要。为了帮助不熟悉这些工具的肿瘤学家和转化癌症研究人员,我们综述了目前几种常用的精准医学软件选项的实用性、准确性和全面性。我们的分析根据所选基因组数据库的主要内容、实用性以及它们为解释体细胞生物标志物数据提供实际指导的程度对其进行了分类。我们确定了几个全面的、大多为开放获取的平台,这些平台易于用于基因生物标志物搜索,每个平台都有独特的特点和局限性。在我们评估的精准肿瘤学工具中,我们发现MyCancerGenome和OncoKB是首选,它们提供了关于体细胞突变临床意义的全面、准确的最新信息。为了说明这些精准肿瘤学工具在临床环境中的应用,我们评估了三个案例研究,以了解使用这些平台如何影响治疗计划。大多数评估的精准肿瘤学软件可以很容易地整合到临床工作流程中,以提供与检测到的可操作突变相关的批准药物和临床试验的最新信息。一些平台非常直观且易于使用,而其他平台,通常是在较小的学术环境中开发的,更难操作且可能没有持续更新。未来结合人工智能算法的改进可能会提高这些平台与各种大数据源的整合,从而能够更准确地预测潜在的治疗反应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/493a/11566986/bbe5f85554c9/13039_2024_698_Fig1_HTML.jpg

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