% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Guidara:291389,
      author       = {S. Guidara and A. Seyve and D. Poncet and C. Leonce and
                      P.-P. Bringuier and A. McLeer and D. Sturm$^*$ and S.
                      Cartalat and T. Picart and A. Ferrari and J. Hench and S.
                      Frank and D. Meyronet and F. Ducray and M. Barritault},
      title        = {{C}haracteristics of {H}3{K}27{M}-mutant diffuse gliomas
                      with a non-midline location.},
      journal      = {Journal of neuro-oncology},
      volume       = {169},
      number       = {2},
      issn         = {0167-594X},
      address      = {Dordrecht [u.a.]},
      publisher    = {Springer Science + Business Media B.V},
      reportid     = {DKFZ-2024-01377},
      pages        = {391-398},
      year         = {2024},
      note         = {2024 Sep;169(2):391-398},
      abstract     = {Diffuse midline gliomas (DMG) with H3K27 alterations
                      (H3K27M-DMG) are a highly aggressive form of brain cancer.
                      In rare cases, H3K27 mutations have been observed in diffuse
                      non-midline gliomas (DNMG). It is currently unclear how
                      these tumors should be classified. Herein, we analyze the
                      characteristics of DNMG with H3K27M mutations.We reviewed
                      the clinical, radiological and histological characteristics
                      of all patients with an H3K27M mutated diffuse glioma
                      diagnosed in our institution, between 2016 and 2023, to
                      identify cases with a non-midline location. We then
                      performed a molecular characterization (DNA methylation
                      profiling, whole genome and transcriptome sequencing or
                      targeted sequencing) of patients with an H3K27M-mutant DNMG
                      and reviewed previously reported cases.Among 51 patients (18
                      children and 33 adults) diagnosed with an H3K27M diffuse
                      glioma, we identified two patients $(4\%)$ who had a
                      non-midline location. Including our two patients, 39
                      patients were reported in the literature with an
                      H3K27M-mutant DNMG. Tumors were most frequently located in
                      the temporal lobe $(48\%),$ affected adolescents and adults,
                      and were associated with a poor outcome (median overall
                      survival was 10.3 months (0.1-84)). Median age at diagnosis
                      was 19.1 years. Tumors frequently harbored TP53 mutations
                      $(74\%),$ ATRX mutations $(71\%)$ and PDGFRA mutations or
                      amplifications $(44\%).$ In DNA methylation analysis,
                      H3K27M-mutant DNMG clustered within or close to the
                      reference group of H3K27M-mutant DMG. Compared to their
                      midline counterpart, non-midline gliomas with H3K27M
                      mutations seemed more frequently associated with PDGFRA
                      alterations.DNMG with H3K27M mutations share many
                      similarities with their midline counterpart, suggesting that
                      they correspond to a rare anatomical presentation of these
                      tumors. This is of paramount importance, as they may benefit
                      from new therapeutic approaches such as ONC201.},
      keywords     = {Diffuse intrinsic pontine glioma (Other) / Diffuse midline
                      glioma H3 K27-altered (Other) / H3K27M (Other) / H3K28M
                      (Other) / Methylation (Other) / Non-midline (Other) /
                      Pediatric glioma (Other)},
      cin          = {B360 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38937309},
      doi          = {10.1007/s11060-024-04733-z},
      url          = {https://inrepo02.dkfz.de/record/291389},
}