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

Dokumentenart:	Artikel
Titel eines Journals oder einer Zeitschrift:	Clinical Neuropathology
Verlag:	DUSTRI-VERLAG DR KARL FEISTLE
Ort der Veröffentlichung:	DEISENHOFEN-MUENCHEN
Band:	42
Nummer des Zeitschriftenheftes oder des Kapitels:	05
Seitenbereich:	S. 112-121
Datum:	2023
Institutionen:	Medizin > Abteilung für Neuropathologie
Identifikationsnummer:	Wert Typ 10.5414/NP301547 DOI
Stichwörter / Keywords:	PEDIATRIC HIGH-GRADE; TUMORS; molecular diagnostics; central nervous system tumor; glioblastoma; oli-godendroglioma; pilocytic astrocytoma; diffuse midline glioma; diffuse hemispheric glioma
Dewey-Dezimal-Klassifikation:	600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
Status:	Veröffentlicht
Begutachtet:	Ja, diese Version wurde begutachtet
An der Universität Regensburg entstanden:	Ja
Dokumenten-ID:	75824

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Zusammenfassung

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 ...

Zusammenfassung

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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