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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},
}