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@ARTICLE{Schmid:296129,
      author       = {S. Schmid$^*$ and K. Mirchia and A. Tietze and I. Liu and
                      C. Siewert and J. Nückles and J. Schittenhelm and F.
                      Behling and M. Snuderl and C. Hartmann and S. Brandner and
                      S. M. L. Paine and A. Korshunov$^*$ and M. Hasselblatt and
                      R. Coras and S. Epari and C. Stadelmann and S. Zechel and M.
                      Simon and Y. Wilson and F. Gianno and G. L. Calixto-Hope and
                      V. Zherebitskiy and V. B. Kaimaktchiev and L. Robinson and
                      K. Aldape and E. W. Hoving and B. B. J. Tops and A. A.
                      Perera$^*$ and P. Göller and P. Hernáiz Driever and P.
                      Wesseling and A. Koch and A. Perry and F. Sahm$^*$ and D.
                      Jones$^*$ and D. Capper$^*$},
      title        = {{VGLL}-fusions define a new class of intraparenchymal {CNS}
                      schwannoma.},
      journal      = {Neuro-Oncology},
      volume       = {27},
      number       = {4},
      issn         = {1522-8517},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2025-00059},
      pages        = {1031-1045},
      year         = {2025},
      note         = {2025 May 15;27(4):1031-1045},
      abstract     = {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 $28.6\%$ of tumor cells (n=1). During median
                      follow-up of 1.8 years (range 3 months-9 years), none of the
                      tumors recurred (n=10).We identify and define a new benign
                      tumor class, designated VGLL-altered intraparenchymal CNS
                      schwannomas. These tumors feature VGLL alterations and a
                      specific DNA-methylation profile, with schwannoma-like
                      histopathology and CNS localization, akin to previously
                      classified intracerebral schwannomas.},
      keywords     = {VGLL (Other) / gliofibroma (Other) / glioma (Other) /
                      schwannoma (Other) / tumor (Other)},
      cin          = {B300 / HD01 / B360 / BE01},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B360-20160331 / I:(DE-He78)BE01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39713960},
      doi          = {10.1093/neuonc/noae269},
      url          = {https://inrepo02.dkfz.de/record/296129},
}