TY  - JOUR
AU  - Hinz, Felix
AU  - Friedel, Dennis
AU  - Korshunov, Andrey
AU  - Ippen, Franziska
AU  - Bogumil, Henri
AU  - Banan, Rouzbeh
AU  - Brandner, Sebastian
AU  - Hasselblatt, Martin
AU  - Boldt, Henning B
AU  - Dirse, Vaidas
AU  - Dohmen, Hildegard
AU  - Aronica, Eleonora
AU  - Brodhun, Michael
AU  - Broekman, Marike L D
AU  - Capper, David
AU  - Cherkezov, Asan
AU  - Deng, Maximilian Y
AU  - van Dis, Vera
AU  - Felsberg, Jörg
AU  - Frank, Stephan
AU  - French, Pim J
AU  - Gerlach, Rüdiger
AU  - Göbel, Kirsten
AU  - Goold, Eric
AU  - Hench, Jürgen
AU  - Kantelhardt, Sven
AU  - Kohlhof-Meinecke, Patricia
AU  - Krieg, Sandro
AU  - Mawrin, Christian
AU  - Morrison, Gillian
AU  - Mühlebner, Angelika
AU  - Ozduman, Koray
AU  - Pfister, Stefan
AU  - Poliani, Pietro Luigi
AU  - Prinz, Marco
AU  - Reifenberger, Guido
AU  - Riemenschneider, Markus J
AU  - Sankowski, Roman
AU  - Schrimpf, Daniel
AU  - Sill, Martin
AU  - Snuderl, Matija
AU  - Verdijk, Robert M
AU  - Voisin, Mathew R
AU  - Wesseling, Pieter
AU  - Wick, Wolfgang
AU  - Reuss, David E
AU  - von Deimling, Andreas
AU  - Sahm, Felix
AU  - Maas, Sybren L N
AU  - Suwala, Abigail Kora
TI  - IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread.
JO  - Acta neuropathologica
VL  - 149
IS  - 1
SN  - 0001-6322
CY  - Heidelberg
PB  - Springer
M1  - DKFZ-2025-00283
SP  - 12
PY  - 2025
N1  - #EA:B300#LA:B300#
AB  - 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
KW  - Humans
KW  - Astrocytoma: genetics
KW  - Astrocytoma: pathology
KW  - Isocitrate Dehydrogenase: genetics
KW  - Brain Neoplasms: genetics
KW  - Brain Neoplasms: pathology
KW  - Male
KW  - Mutation
KW  - Female
KW  - Middle Aged
KW  - DNA Methylation
KW  - Adult
KW  - Aged
KW  - Meningeal Neoplasms: genetics
KW  - Meningeal Neoplasms: pathology
KW  - Young Adult
KW  - MYCN (Other)
KW  - RB1 (Other)
KW  - Astrocytoma (Other)
KW  - DNA methylation (Other)
KW  - IDH-mutant (Other)
KW  - Primitive neuronal component (Other)
KW  - Isocitrate Dehydrogenase (NLM Chemicals)
KW  - IDH1 protein, human (NLM Chemicals)
KW  - IDH2 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:39899075
C2  - pmc:PMC11790679
DO  - DOI:10.1007/s00401-025-02849-8
UR  - https://inrepo02.dkfz.de/record/298558
ER  -