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@ARTICLE{Hellmeyer:308624,
      author       = {J. Hellmeyer and L. W. Sannwald and M. L. Moskopp and D.
                      Capper$^*$ and D. Moskopp},
      title        = {{T}he great imitator: clinical, surgical, and molecular
                      insights into diffuse midline gliomas, {H}3 {K}27-altered.
                      {I}llustrative cases.},
      journal      = {Journal of neurosurgery / Case lessons},
      volume       = {10},
      number       = {24},
      issn         = {2694-1902},
      address      = {Charlottesville, Va.},
      publisher    = {American Association of Neurological Surgeons},
      reportid     = {DKFZ-2026-00187},
      pages        = {CASE25357},
      year         = {2025},
      abstract     = {H3 K27-altered diffuse midline gliomas (DMGs) are a rare
                      form of primary CNS tumors. In this retrospective
                      single-center case study, DMGs were reviewed for clinical
                      and imaging findings, surgical approaches and challenges,
                      and molecular diagnosis.Four cases of adult DMG, H3
                      K27-altered, located among midline structures of the
                      thalamus, brainstem, and spinal cord are presented here. All
                      tumors exhibited heterogeneous presentations on imaging.
                      Symptoms ranged from unspecific back pain and vertigo to
                      focal neurological deficits. Surgery was complicated by high
                      vascularization, infiltrative growth, and proximity to
                      eloquent areas. Diagnostic accuracy was increased by
                      epigenetic DNA methylation-based classification. Three cases
                      were rapidly progressive and resulted in death within 1 year
                      of diagnosis. One case had an exceptionally long overall
                      survival of > 5 years, which was associated with a FGFR1
                      p.N546K hotspot mutation.DMGs are rare but imitate other
                      pathologies due to variable clinical and radiological
                      characteristics. Surgery is complicated by location and high
                      vascularization. Although DMGs are rare, they should be
                      considered as a differential diagnosis in intracranial and
                      spinal masses in adults. As the FGFR1 p.N546K hotspot
                      mutation is associated with prolonged survival, it may
                      justify more radical surgery in eloquent regions.
                      https://thejns.org/doi/10.3171/CASE25357.},
      keywords     = {H3 K27–altered (Other) / brainstem (Other) / diffuse
                      midline glioma (Other) / spinal cord (Other) / thalamus
                      (Other)},
      cin          = {BE01},
      ddc          = {610},
      cid          = {I:(DE-He78)BE01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41569884},
      doi          = {10.3171/CASE25357},
      url          = {https://inrepo02.dkfz.de/record/308624},
}