[中枢神经系统肿瘤分子病理学实用方法]。

Magyar onkologia Pub Date : 2023-12-18 Epub Date: 2023-10-18
Livia Vida, Bálint Horváth, Béla Kajtár
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引用次数: 0

摘要

分子诊断学的最新进展正在改变恶性肿瘤的分类,它在中枢神经系统肿瘤领域长期发挥着重要作用。在弥漫性胶质瘤的病例中,1p/19q编码缺失的检查是必不可少的。如果出现表皮生长因子受体扩增、TERT 启动子突变或 +7/-10 拷贝数异常,即使没有特征性的形态学特征,也可诊断为胶质母细胞瘤。由基因异常定义的实体越来越多。除了组织学和基础分子研究外,DNA甲基化的综合分析也会有很大帮助,尤其是在样本较小的情况下。不过,中枢神经系统肿瘤诊断人员应该了解这些方法的优缺点以及它们可能发挥作用的背景。本摘要概述了分子诊断中使用的主要方法。
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[Practical approach to molecular pathology of central nervous system tumours].

Recent advances in molecular diagnostics are transforming the classification of malignant tumours, it has long played a major role in the field of CNS tumours. Examination of 1p/19q codeletion is indispensable in case of diffuse gliomas. Glioblastoma may be diagnosed even in the absence of characteristic morphological features, when EGFR amplification, TERT promoter mutation or +7/-10 copy number abnormalities are present. The number of entities defined by a genetic abnormality is growing. Comprehensive analysis of DNA methylation may be of considerable help in addition to histology and basic molecular studies, especially in case of small samples. Keeping up with the ever-expanding diagnostic repertoire is difficult, however, advantages and disadvantages of these methods and the context in which they may be useful should be understood by those who are involved in the diagnosis of CNS tumours. This summary provides a general overview of the main methods used in molecular diagnostics.

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