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

Pohl, Sandra ; Dimitrova, Lora ; Grassow-Narlik, Maja ; Jöhrens, Korinna ; Acker, Till ; Dohmen, Hildegard ; Herms, Jochen ; Dorostkar, Mario ; Hartmann, Christian ; Hasselblatt, Martin ; Neumann, Manuela ; Reifenberger, Guido ; Felsberg, Jörg ; Schüller, Ulrich ; Zoubaa, Saida ; Lorenz, Julia ; Rothhammer-Hampl, Tanja ; Mauch-Mücke, Katrin ; Riemenschneider, Markus J.

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Details

Item type:	Article
Journal or Publication Title:	Clinical Neuropathology
Publisher:	DUSTRI-VERLAG DR KARL FEISTLE
Place of Publication:	DEISENHOFEN-MUENCHEN
Volume:	42
Number of Issue or Book Chapter:	05
Page Range:	pp. 112-121
Date:	2023
Institutions:	Medicine > Abteilung für Neuropathologie
Identification Number:	Value Type 10.5414/NP301547 DOI
Keywords:	PEDIATRIC HIGH-GRADE; TUMORS; molecular diagnostics; central nervous system tumor; glioblastoma; oli-godendroglioma; pilocytic astrocytoma; diffuse midline glioma; diffuse hemispheric glioma
Dewey Decimal Classification:	600 Technology > 610 Medical sciences Medicine
Status:	Published
Refereed:	Yes, this version has been refereed
Created at the University of Regensburg:	Yes
Item ID:	75824

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Abstract

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 ...

Abstract

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 molecu lar 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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Metadata last modified: 18 Mar 2025 10:05

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