神经病理学质量保证更新:2020年和2021年德国TERT启动子突变、H3-3A突变、1p/19q编码缺失和KIAA1549的循环试验摘要:BRAF融合测试。

IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Clinical Neuropathology Pub Date : 2023-05-01 DOI:10.5414/NP301547
Sandra Pohl, Lora Dimitrova, Maja Grassow-Narlik, Korinna Jöhrens, Till Acker, Hildegard Dohmen, Jochen Herms, Mario Dorostkar, Christian Hartmann, Martin Hasselblatt, Manuela Neumann, Guido Reifenberger, Jörg Felsberg, Ulrich Schüller, Saida Zoubaa, Julia Lorenz, Tanja Rothhammer-Hampl, Katrin Mauch-Mücke, Markus J Riemenschneider
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引用次数: 1

摘要

我们之前报道了2018年和2019年在德国与Quality in Pathology(QuIP)GmbH合作进行的第一次神经病理学循环试验,即IDH突变测试和MGMT启动子甲基化分析试验[1]。2020年和2021年,循环试验的范围已经扩大,涵盖了神经病理学机构中最常用的检测方法。除了IDH突变和MGMT启动子甲基化检测外,1p/19q编码缺失检测在诊断少突胶质瘤方面也有着悠久的传统。随着世界卫生组织(世界卫生组织)对中枢神经系统肿瘤的第5版分类,额外的分子标记物成为焦点:TERT启动子突变通常被评估为IDH野生型胶质母细胞瘤的分子诊断标准。此外,已经为儿童脑肿瘤引入了几种分子诊断标志物。在这里,神经病理学界最希望对KIAA1549::BRAF融合(在毛细胞星形细胞瘤中常见)和H3-3A突变(在弥漫性中线神经胶质瘤中,H3-K27-改变和弥漫性半球神经胶质瘤,H3-G34-突变)进行试验。在这次更新中,我们报道了这些新颖的循环试验。总之,所有四项试验的成功率在75%至96%之间,证明了分子神经病理学诊断领域的总体高质量水平。
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Update on quality assurance in neuropathology: Summary of the round robin trials on TERT promoter mutation, H3-3A mutation, 1p/19q codeletion, and KIAA1549::BRAF fusion testing in Germany in 2020 and 2021.

We previously reported on the first neuropathological round robin trials operated together with Quality in Pathology (QuIP) GmbH in 2018 and 2019 in Germany, i.e., the trials on IDH mutational testing and MGMT promoter methylation analysis [1]. For 2020 and 2021, the spectrum of round robin trials has been expanded to cover the most commonly used assays in neuropathological institutions. In addition to IDH mutation and MGMT promoter methylation testing, there is a long tradition for 1p/19q codeletion testing relevant in the context of the diagnosis of oligodendroglioma. With the 5th edition of the World Health Organization (WHO) classification of the central nervous system tumors, additional molecular markers came into focus: TERT promoter mutation is often assessed as a molecular diagnostic criterion for IDH-wildtype glioblastoma. Moreover, several molecular diagnostic markers have been introduced for pediatric brain tumors. Here, trials on KIAA1549::BRAF fusions (common in pilocytic astrocytomas) and H3-3A mutations (in diffuse midline gliomas, H3-K27-altered and diffuse hemispheric gliomas, H3-G34-mutant) were most desired by the neuropathological community. In this update, we report on these novel round robin trials. In summary, success rates in all four trials ranged from 75 to 96%, arguing for an overall high quality level in the field of molecular neuropathological diagnostics.

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来源期刊
Clinical Neuropathology
Clinical Neuropathology 医学-病理学
CiteScore
1.60
自引率
0.00%
发文量
70
审稿时长
>12 weeks
期刊介绍: Clinical Neuropathology appears bi-monthly and publishes reviews and editorials, original papers, short communications and reports on recent advances in the entire field of clinical neuropathology. Papers on experimental neuropathologic subjects are accepted if they bear a close relationship to human diseases. Correspondence (letters to the editors) and current information including book announcements will also be published.
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