Shelton William J, Zandpazandi Sara, Nix J Stephen, Gokden Murat, Bauer Michael, Ryan Katie Rose, Wardell Christopher P, Vaske Olena Morozova, Rodriguez Analiz
Department of Neurosurgery, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, United States.
Department of Neurosurgery, Medical University of South Carolina, Charleston, SC, United States.
Front Oncol. 2024 Jun 10;14:1395985. doi: 10.3389/fonc.2024.1395985. eCollection 2024.
Brain tumors and genomics have a long-standing history given that glioblastoma was the first cancer studied by the cancer genome atlas. The numerous and continuous advances through the decades in sequencing technologies have aided in the advanced molecular characterization of brain tumors for diagnosis, prognosis, and treatment. Since the implementation of molecular biomarkers by the WHO CNS in 2016, the genomics of brain tumors has been integrated into diagnostic criteria. Long-read sequencing, also known as third generation sequencing, is an emerging technique that allows for the sequencing of longer DNA segments leading to improved detection of structural variants and epigenetics. These capabilities are opening a way for better characterization of brain tumors. Here, we present a comprehensive summary of the state of the art of third-generation sequencing in the application for brain tumor diagnosis, prognosis, and treatment. We discuss the advantages and potential new implementations of long-read sequencing into clinical paradigms for neuro-oncology patients.
鉴于胶质母细胞瘤是癌症基因组图谱研究的首个癌症，脑肿瘤与基因组学有着悠久的历史。几十年来，测序技术的众多持续进步有助于对脑肿瘤进行先进的分子特征分析，以用于诊断、预后评估和治疗。自2016年世界卫生组织中枢神经系统肿瘤分类实施分子生物标志物以来，脑肿瘤的基因组学已被纳入诊断标准。长读长测序，也称为第三代测序，是一种新兴技术，它能够对更长的DNA片段进行测序，从而提高对结构变异和表观遗传学的检测能力。这些能力为更好地表征脑肿瘤开辟了一条道路。在此，我们全面总结了第三代测序在脑肿瘤诊断、预后评估和治疗应用方面的最新进展。我们讨论了长读长测序在神经肿瘤患者临床模式中的优势和潜在的新应用。
