%0 Journal Article
%A Hinz, Felix
%A Friedel, Dennis
%A Korshunov, Andrey
%A Ippen, Franziska
%A Bogumil, Henri
%A Banan, Rouzbeh
%A Brandner, Sebastian
%A Hasselblatt, Martin
%A Boldt, Henning B
%A Dirse, Vaidas
%A Dohmen, Hildegard
%A Aronica, Eleonora
%A Brodhun, Michael
%A Broekman, Marike L D
%A Capper, David
%A Cherkezov, Asan
%A Deng, Maximilian Y
%A van Dis, Vera
%A Felsberg, Jörg
%A Frank, Stephan
%A French, Pim J
%A Gerlach, Rüdiger
%A Göbel, Kirsten
%A Goold, Eric
%A Hench, Jürgen
%A Kantelhardt, Sven
%A Kohlhof-Meinecke, Patricia
%A Krieg, Sandro
%A Mawrin, Christian
%A Morrison, Gillian
%A Mühlebner, Angelika
%A Ozduman, Koray
%A Pfister, Stefan
%A Poliani, Pietro Luigi
%A Prinz, Marco
%A Reifenberger, Guido
%A Riemenschneider, Markus J
%A Sankowski, Roman
%A Schrimpf, Daniel
%A Sill, Martin
%A Snuderl, Matija
%A Verdijk, Robert M
%A Voisin, Mathew R
%A Wesseling, Pieter
%A Wick, Wolfgang
%A Reuss, David E
%A von Deimling, Andreas
%A Sahm, Felix
%A Maas, Sybren L N
%A Suwala, Abigail Kora
%T IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread.
%J Acta neuropathologica
%V 149
%N 1
%@ 0001-6322
%C Heidelberg
%I Springer
%M DKFZ-2025-00283
%P 12
%D 2025
%Z #EA:B300#LA:B300#
%X IDH-mutant astrocytomas are diffuse gliomas that are defined by characteristic mutations in IDH1 or IDH2 and do not have complete 1p/19q co-deletion. The established grading criteria include histological features of brisk mitotic activity (grade 3) and necrosis and/or microvascular proliferation (grade 4). In addition, homozygous deletion of the CDKN2A/B locus has recently been implemented as a molecular marker for grade 4 IDH-mutant astrocytomas. Here, we describe a subgroup of high-grade IDH-mutant astrocytomas characterised by a primitive neuronal component based on histology and a distinct DNA methylation profile (n = 51, ASTRO PNC). Misinterpretation as carcinoma metastasis was common, since GFAP expression was absent in the primitive neuronal component, whereas TTF-1 expression was detected in 15/19 cases (79
%K Humans
%K Astrocytoma: genetics
%K Astrocytoma: pathology
%K Isocitrate Dehydrogenase: genetics
%K Brain Neoplasms: genetics
%K Brain Neoplasms: pathology
%K Male
%K Mutation
%K Female
%K Middle Aged
%K DNA Methylation
%K Adult
%K Aged
%K Meningeal Neoplasms: genetics
%K Meningeal Neoplasms: pathology
%K Young Adult
%K MYCN (Other)
%K RB1 (Other)
%K Astrocytoma (Other)
%K DNA methylation (Other)
%K IDH-mutant (Other)
%K Primitive neuronal component (Other)
%K Isocitrate Dehydrogenase (NLM Chemicals)
%K IDH1 protein, human (NLM Chemicals)
%K IDH2 protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39899075
%2 pmc:PMC11790679
%R 10.1007/s00401-025-02849-8
%U https://inrepo02.dkfz.de/record/298558