神经病理学质量保证更新:2020年和2021年在德国进行的TERT启动子突变、H3-3A突变、1p/19q代码letion和KIAA1549::BRAF融合测试环路试验总结。
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.
发表日期:2023 Mar 31
作者:
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
来源:
Brain Structure & Function
摘要:
我们之前报道了2018年和2019年与Quality in Pathology (QuIP) GmbH合作进行的第一次神经病理学轮换试验,即IDH突变检测和MGMT启动子甲基化分析的试验[1]。对于2020年和2021年,轮换试验的范围已扩展到覆盖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,还有一项在寡足细胞瘤诊断背景下相关的1p/19q缺失检测传统。随着世界卫生组织(WHO)中枢神经系统肿瘤分类的第五版,更多的分子标记得到了关注:TERT启动子突变通常被视为IDH野生型胶质母细胞瘤的分子诊断标准。此外,还引入了几个儿童脑肿瘤的分子诊断标记。在这里,神经病理学社区最需要进行KIAA1549::BRAF融合(常见于毛细胞星形细胞瘤)和H3-3A突变(在弥漫性中线胶质瘤、H3-K27变异和弥漫性半球形胶质瘤、H3-G34突变中)试验。在这次更新中,我们报告了这些新的轮换试验。总之,四项试验的成功率在75%到96%之间,说明分子神经病理诊断领域整体具有很高的质量水平。
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.