用于中枢神经系统肿瘤病理诊断的分子工具。
Molecular tools for the pathologic diagnosis of central nervous system tumors.
作者信息
Priesterbach-Ackley Loudy P, Wesseling Pieter, Snijders Tom J, de Vos Filip Y F L, de Leng Wendy W J
机构信息
Department of Pathology, University Medical Center Utrecht, The Netherlands.
Department of Pathology, Princess Máxima Center for Pediatric Oncology and University Medical Center Utrecht, The Netherlands.
出版信息
Neurooncol Pract. 2019 Jan;6(1):4-16. doi: 10.1093/nop/npy041. Epub 2018 Nov 5.
Abstract
Molecular diagnostics currently has a crucial role in neuro-oncological patient care. (Epi)genetic assays testing for point mutations, copy number variations, gene fusions, translocations, and methylation status are of main diagnostic interest in neuro-oncology. Multiple assays have been developed for this purpose, ranging from single gene tests to high-throughput, integrated techniques enabling detection of multiple genetic aberrations in a single workflow. This review describes the nature of the simpler and more complex assays for molecular diagnostics of tumors of the central nervous system and briefly discusses their strengths and weaknesses.
摘要
分子诊断目前在神经肿瘤患者护理中起着关键作用。检测点突变、拷贝数变异、基因融合、易位和甲基化状态的（表观）遗传学检测是神经肿瘤学主要的诊断关注点。为此已经开发了多种检测方法，从单基因检测到高通量集成技术，能够在单个工作流程中检测多种基因异常。本文综述描述了用于中枢神经系统肿瘤分子诊断的较简单和较复杂检测方法的性质，并简要讨论了它们的优缺点。
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