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@ARTICLE{TauzideEspariat:294583,
      author       = {A. Tauziède-Espariat and L. L. Friker and G. Nussbaumer
                      and B. Bison and V. Dangouloff-Ros and A. Métais and D.
                      Sumerauer and J. Zamecnik and M. Benesch and T. Perwein and
                      D. van Vuurden and P. Wesseling and A. M. La Madrid and M.
                      L. Garrè and M. Antonelli and F. Giangaspero and T. Pietsch
                      and D. Sturm$^*$ and D. T. W. Jones$^*$ and S. M.
                      Pfister$^*$ and Y. Grabovska and A. Mackay and C. Jones and
                      J. Grill and Y. Ajlil and A. O. von Bueren and M. Karremann
                      and M. Hoffmann and C. M. Kramm and R. Kwiecien and D.
                      Castel and G. H. Gielen and P. Varlet},
      title        = {{D}iffuse pediatric high-grade glioma of methylation-based
                      {RTK}2{A} and {RTK}2{B} subclasses present distinct
                      radiological and histomolecular features including
                      {G}liomatosis cerebri phenotype.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {12},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2024-02358},
      pages        = {176},
      year         = {2024},
      abstract     = {Diffuse pediatric-type high-grade gliomas (pedHGG), H3- and
                      IDH-wildtype, encompass three main DNA-methylation-based
                      subtypes: pedHGG-MYCN, pedHGG-RTK1A/B/C, and pedHGG-RTK2A/B.
                      Since their first description in 2017 tumors of
                      pedHGG-RTK2A/B have not been comprehensively characterized
                      and clinical correlates remain elusive. In a recent series
                      of pedHGG with a Gliomatosis cerebri (GC) growth pattern, an
                      increased incidence of pedHGG-RTK2A/B (n = 18) was observed.
                      We added 14 epigenetically defined pedHGG-RTK2A/B tumors to
                      this GC series and provided centrally reviewed radiological,
                      histological, and molecular characterization. The final
                      cohort of 32 pedHGG-RTK2A/B tumors consisted of 25
                      pedHGG-RTK2A $(78\%)$ and seven pedHGG-RTK2B $(22\%)$ cases.
                      The median age was 11.6 years (range, 4-17) with a median
                      overall survival of 16.0 months (range 10.9-28.2). Seven of
                      11 of the newly added cases with imaging available showed a
                      GC phenotype at diagnosis or follow-up. PedHGG-RTK2B tumors
                      exhibited frequent bithalamic involvement (6/7, $86\%).$
                      Central neuropathology review confirmed a diffuse glial
                      neoplasm in all tumors with prominent angiocentric features
                      in both subclasses. Most tumors (24/27 with available data,
                      $89\%)$ diffusely expressed EGFR with focal angiocentric
                      enhancement. PedHGG-RTK2A tumors lacked OLIG2 expression,
                      whereas $43\%$ (3/7) of pedHGG-RTK2B expressed this glial
                      transcription factor. ATRX loss occurred in 3/6 pedHGG-RTK2B
                      samples with available data $(50\%).$ DNA sequencing
                      (pedHGG-RTK2A: n = 18, pedHGG-RTK2B: n = 5) found EGFR
                      alterations (15/23, $65\%;$ predominantly point mutations)
                      in both subclasses. Mutations in BCOR (14/18, $78\%),$ SETD2
                      (7/18, $39\%),$ and the hTERT promoter (7/19, $37\%)$
                      occurred exclusively in pedHGG-RTK2A tumors, while
                      pedHGG-RTK2B tumors were enriched for TP53 alterations (4/5,
                      $80\%).$ In conclusion, pedHGG-RTK2A/B tumors are
                      characterized by highly diffuse-infiltrating growth patterns
                      and specific radiological and histo-molecular features. By
                      comprehensively characterizing methylation-based tumors, the
                      chance to develop specific and effective therapy concepts
                      for these detrimental tumors increases.},
      keywords     = {Humans / Child / Male / Female / Brain Neoplasms: genetics
                      / Brain Neoplasms: pathology / Brain Neoplasms: diagnostic
                      imaging / Adolescent / Child, Preschool / Neoplasms,
                      Neuroepithelial: genetics / Neoplasms, Neuroepithelial:
                      pathology / Neoplasms, Neuroepithelial: diagnostic imaging /
                      DNA Methylation / Glioma: genetics / Glioma: pathology /
                      Glioma: diagnostic imaging / Phenotype / Gliomatosis cerebri
                      (Other) / Methylation (Other) / Pediatric high-grade glioma
                      (Other) / RTK2A (Other) / RTK2B (Other) / Receptor tyrosine
                      kinase (Other) / pedHGG (Other)},
      cin          = {B360 / B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)B062-20160331 /
                      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:39558399},
      pmc          = {pmc:PMC11575044},
      doi          = {10.1186/s40478-024-01881-1},
      url          = {https://inrepo02.dkfz.de/record/294583},
}