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 and Dimitrova, Lora and Grassow-Narlik, Maja and Joehrens, Korinna and Acker, Till and Dohmen, Hildegard and Herms, Jochen and Dorostkar, Mario and Hartmann, Christian and Hasselblatt, Martin and Neumann, Manuela and Reifenberger, Guido and Felsberg, Joerg and Schueller, Ulrich and Zoubaa, Saida and Lorenz, Julia and Rothhammer-Hampl, Tanja and Mauch-Muecke, Katrin and Riemenschneider, Markus J. (2023) 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. CLINICAL NEUROPATHOLOGY, 42 (3). pp. 112-121. ISSN 0722-5091,

Full text not available from this repository. (Request a copy)

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.

Item Type: Article
Uncontrolled Keywords: PEDIATRIC HIGH-GRADE; TUMORS; molecular diagnostics; central nervous system tumor; glioblastoma; oli-godendroglioma; pilocytic astrocytoma; diffuse midline glioma; diffuse hemispheric glioma
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Abteilung für Neuropathologie
Depositing User: Dr. Gernot Deinzer
Date Deposited: 14 Mar 2024 14:29
Last Modified: 14 Mar 2024 14:29
URI: https://pred.uni-regensburg.de/id/eprint/60126

Actions (login required)

View Item View Item