%0 Journal Article
%A Schmid, Simone
%A Mirchia, Kanish
%A Tietze, Anna
%A Liu, Ilon
%A Siewert, Christin
%A Nückles, Jakob
%A Schittenhelm, Jens
%A Behling, Felix
%A Snuderl, Matija
%A Hartmann, Christian
%A Brandner, Sebastian
%A Paine, Simon M L
%A Korshunov, Andrey
%A Hasselblatt, Martin
%A Coras, Roland
%A Epari, Sridhar
%A Stadelmann, Christine
%A Zechel, Sabrina
%A Simon, Michèle
%A Wilson, Yelena
%A Gianno, Francesca
%A Calixto-Hope, G Lucas
%A Zherebitskiy, Viktor
%A Kaimaktchiev, Vassil B
%A Robinson, Lorraina
%A Aldape, Kenneth
%A Hoving, Eelco W
%A Tops, Bastiaan B J
%A Perera, Ashwyn Augustine
%A Göller, Pauline
%A Hernáiz Driever, Pablo
%A Wesseling, Pieter
%A Koch, Arend
%A Perry, Arie
%A Sahm, Felix
%A Jones, David
%A Capper, David
%T VGLL-fusions define a new class of intraparenchymal CNS schwannoma.
%J Neuro-Oncology
%V 27
%N 4
%@ 1522-8517
%C Oxford
%I Oxford Univ. Press
%M DKFZ-2025-00059
%P 1031-1045
%D 2025
%Z 2025 May 15;27(4):1031-1045
%X Intracerebral schwannomas are rare tumors resembling their peripheral nerve sheath counterparts but localized in the CNS. They are not classified as a separate tumor type in the 2021 WHO classification. This study aimed to compile and characterize these rare neoplasms morphologically and molecularly.We analyzed 20 tumor samples by histology, RNA Next-Generation Sequencing, DNA-methylation profiling, copy number analyses, and single nucleus RNA sequencing (snRNA-seq). Clinical data, including age, sex, and disease progression, were collected. MRI series were included when available.All cases with tissue available for histology review (n=13) were morphologically consistent with intracerebral schwannoma, but differed in their extent of GFAP staining. All (n=20) shared DNA-methylation profiles distinct from other CNS tumors, as well as from VGLL-altered peripheral nerve sheath tumors. Most cases (n=14/17) harbored fusions of either VGLL3 or VGLL1 (CHD7::VGLL3 (n=9/17) and EWSR1::VGLL1 (n=5/17)). In two cases the presence of a VGLL3 fusion was also confirmed by CNA analyses (n=2/17). MRI (n=4) showed well-defined, nodular tumors with strong, homogeneous enhancement and no diffusion restriction. Tumors were located throughout the neuroaxis [supratentorial (n=15), infratentorial (n=4), and spinal (n=1)]. snRNA-seq of a VGLL1-fused tumor indicated VGLL1 upregulation in 28.6
%K VGLL (Other)
%K gliofibroma (Other)
%K glioma (Other)
%K schwannoma (Other)
%K tumor (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39713960
%R 10.1093/neuonc/noae269
%U https://inrepo02.dkfz.de/record/296129