TY  - JOUR
AU  - Schmid, Simone
AU  - Mirchia, Kanish
AU  - Tietze, Anna
AU  - Liu, Ilon
AU  - Siewert, Christin
AU  - Nückles, Jakob
AU  - Schittenhelm, Jens
AU  - Behling, Felix
AU  - Snuderl, Matija
AU  - Hartmann, Christian
AU  - Brandner, Sebastian
AU  - Paine, Simon M L
AU  - Korshunov, Andrey
AU  - Hasselblatt, Martin
AU  - Coras, Roland
AU  - Epari, Sridhar
AU  - Stadelmann, Christine
AU  - Zechel, Sabrina
AU  - Simon, Michèle
AU  - Wilson, Yelena
AU  - Gianno, Francesca
AU  - Calixto-Hope, G Lucas
AU  - Zherebitskiy, Viktor
AU  - Kaimaktchiev, Vassil B
AU  - Robinson, Lorraina
AU  - Aldape, Kenneth
AU  - Hoving, Eelco W
AU  - Tops, Bastiaan B J
AU  - Perera, Ashwyn Augustine
AU  - Göller, Pauline
AU  - Hernáiz Driever, Pablo
AU  - Wesseling, Pieter
AU  - Koch, Arend
AU  - Perry, Arie
AU  - Sahm, Felix
AU  - Jones, David
AU  - Capper, David
TI  - VGLL-fusions define a new class of intraparenchymal CNS schwannoma.
JO  - Neuro-Oncology
VL  - 27
IS  - 4
SN  - 1522-8517
CY  - Oxford
PB  - Oxford Univ. Press
M1  - DKFZ-2025-00059
SP  - 1031-1045
PY  - 2025
N1  - 2025 May 15;27(4):1031-1045
AB  - 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
KW  - VGLL (Other)
KW  - gliofibroma (Other)
KW  - glioma (Other)
KW  - schwannoma (Other)
KW  - tumor (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:39713960
DO  - DOI:10.1093/neuonc/noae269
UR  - https://inrepo02.dkfz.de/record/296129
ER  -