Dna甲基化分析在神经肿瘤学中作为诊断支持工具的现状:综述

IF 2.4 Q2 CLINICAL NEUROLOGY
Neuro-oncology practice Pub Date : 2023-07-22 eCollection Date: 2023-12-01 DOI:10.1093/nop/npad040
Jyotsna Singh, Saumya Sahu, Trishala Mohan, Swati Mahajan, Mehar C Sharma, Chitra Sarkar, Vaishali Suri
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引用次数: 0

摘要

在过去的二十年中,高通量全基因组分子谱揭示了与不同类型中枢神经系统(CNS)肿瘤相关的特征性遗传和表观遗传改变。DNA甲基化谱已成为中枢神经系统肿瘤分类的重要分子平台,与护理标准组织病理学分析和任何单一分子测试相比,它具有更高的诊断准确性和患者风险分层。DNA甲基化阵列的出现也在改进现有类型和发现新的肿瘤类型或亚型方面发挥了至关重要的作用。甲基化数据在神经肿瘤学中的应用很大程度上得益于基于机器学习的分类器的开发。在这篇综述中,我们讨论了甲基化工作流程,解决了DNA甲基化谱在中枢神经系统肿瘤常规诊断中的应用,并概述了甲基化肿瘤类型和通过该平台鉴定的新类型或亚型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Current status of DNA methylation profiling in neuro-oncology as a diagnostic support tool: A review.

Over the last 2 decades, high throughput genome-wide molecular profiling has revealed characteristic genetic and epigenetic alterations associated with different types of central nervous system (CNS) tumors. DNA methylation profiling has emerged as an important molecular platform for CNS tumor classification with improved diagnostic accuracy and patient risk stratification in comparison to the standard of care histopathological analysis and any single molecular tests. The emergence of DNA methylation arrays have also played a crucial role in refining existing types and the discovery of new tumor types or subtypes. The adoption of methylation data into neuro-oncology has been greatly aided by the development of a freely accessible machine learning-based classifier. In this review, we discuss methylation workflow, address the utility of DNA methylation profiling in CNS tumors in a routine diagnostic setting, and provide an overview of the methylation-based tumor types and new types or subtypes identified with this platform.

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来源期刊
Neuro-oncology practice
Neuro-oncology practice CLINICAL NEUROLOGY-
CiteScore
5.30
自引率
11.10%
发文量
92
期刊介绍: Neuro-Oncology Practice focuses on the clinical aspects of the subspecialty for practicing clinicians and healthcare specialists from a variety of disciplines including physicians, nurses, physical/occupational therapists, neuropsychologists, and palliative care specialists, who have focused their careers on clinical patient care and who want to apply the latest treatment advances to their practice. These include: Applying new trial results to improve standards of patient care Translating scientific advances such as tumor molecular profiling and advanced imaging into clinical treatment decision making and personalized brain tumor therapies Raising awareness of basic, translational and clinical research in areas of symptom management, survivorship, neurocognitive function, end of life issues and caregiving
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