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成人弥漫性胶质瘤诊断标志物评估模式:欧洲神经病理学会联合会(Euro-CNS)的一项调查

Patterns of diagnostic marker assessment in adult diffuse glioma: a survey of the European Confederation of Neuropathological Societies (Euro-CNS).

作者信息

Woehrer Adelheid, Kristensen Bjarne W, Vital Anne, Hainfellner Johannes A

出版信息

Clin Neuropathol. 2017 Jan/Feb;36 (2017)(1):5-14. doi: 10.5414/NP301009.

Abstract

The 2016 update of the WHO classification has introduced an integrated diagnostic approach that incorporates both tumor morphology and molecular information. This conceptual change has far-reaching implications, especially for neuropathologists who are in the forefront of translating molecular markers to routine diagnostic use. Adult diffuse glioma is a prototypic example for a group of tumors that underwent substantial regrouping, and it represents a major workload for surgical neuropathologists. Hence, we conducted a survey among members of the European Confederation of Neuropathological Societies (Euro-CNS) in order to assess 1) the extent to which molecular markers have already been incorporated in glioma diagnoses, 2) which molecular techniques are in daily use, and 3) to set a baseline for future surveys in this field. Based on 130 responses from participants across 40 nations neuropathologists uniformly rate molecular marker testing as highly relevant and already incorporate molecular information in their diagnostic assessments. At the same time however, the survey documents substantial differences in access to crucial biomarkers and molecular techniques across geographic regions and within individual countries. Concerns are raised concerning the validity of test assays with MGMT, 1p19q, and ATRX; being perceived as most problematic. Neuropathologists advocate the need for international harmonization of standards and consensus guidelines, and the majority is willing to actively engage in interlaboratory trials aiming at quality control (Figure 1).
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摘要

世界卫生组织(WHO)分类的2016年更新引入了一种综合诊断方法,该方法整合了肿瘤形态学和分子信息。这一概念上的变化具有深远影响,尤其对于处于将分子标志物转化为常规诊断应用前沿的神经病理学家而言。成人弥漫性胶质瘤是一组经历了重大重新分类的肿瘤的典型例子,并且它是外科神经病理学家的一项主要工作量。因此,我们对欧洲神经病理学会联合会(Euro-CNS)的成员进行了一项调查,以评估:1)分子标志物已在多大程度上被纳入胶质瘤诊断中;2)日常使用哪些分子技术;3)为该领域未来的调查设定一个基线。基于来自40个国家的参与者的130份回复,神经病理学家一致认为分子标志物检测高度相关,并且已经在他们的诊断评估中纳入了分子信息。然而,与此同时,该调查记录了不同地理区域以及单个国家内部在获取关键生物标志物和分子技术方面的巨大差异。对于MGMT、1p19q和ATRX检测方法的有效性存在担忧;这些被认为是最成问题的。神经病理学家主张需要国际标准协调和共识指南,并且大多数人愿意积极参与旨在进行质量控制的实验室间试验(图1)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3738/5312234/46579b3a3354/clinneuropathol-36-005-01.jpg

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