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@ARTICLE{TauzideEspariat:271000,
      author       = {A. Tauziède-Espariat and E. Uro-Coste and P. Sievers$^*$
                      and Y. Nicaise and C. Mariet and A. Siegfried and G. Pierron
                      and D. Guillemot and J. Benzakoun and J. Pallud and M.
                      Roques and F. Bonneville and D. Larrieu-Ciron and P. Chaynes
                      and R. Saffroy and J. Hamelin and L. Hasty and A. Métais
                      and F. Chrétien and M. Kool$^*$ and J. Gojo and P. Varlet},
      collaboration = {RENOCLIP-LOC},
      title        = {{CNS} tumor with {EP}300::{BCOR} fusion: discussing its
                      prevalence in adult population.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {11},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2023-00353},
      pages        = {26},
      year         = {2023},
      abstract     = {The Central Nervous System (CNS) tumor with BCOR internal
                      tandem duplication (ITD) has recently been added as a novel
                      embryonal histomolecular tumor type to the 2021 World Health
                      Organization (WHO) Classification of CNS Tumors. In
                      addition, other CNS tumors harboring a BCOR/BCORL1 fusion,
                      which are defined by a distinct DNA-methylation profile,
                      have been recently identified in the literature but
                      clinical, radiological and histopathological data remain
                      scarce. Herein, we present two adult cases of CNS tumors
                      with EP300::BCOR fusion. These two cases presented
                      radiological, histopathological, and immunohistochemical
                      homologies with CNS tumors having BCOR ITD in children. To
                      compare these tumors with different BCOR alterations, we
                      performed a literature review with a meta-analysis. CNS
                      tumors with EP300::BCOR fusion seem to be distinct from
                      their BCOR ITD counterparts in terms of age, location,
                      progression-free survival, tumor growth pattern, and
                      immunopositivity for the BCOR protein. CNS tumors from the
                      EP300::BCOR fusion methylation class in adults may be added
                      to the future WHO classification.},
      subtyp        = {Review Article},
      keywords     = {Child / Adult / Humans / Prevalence / Central Nervous
                      System Neoplasms: genetics / Biomarkers, Tumor: analysis /
                      Proto-Oncogene Proteins: genetics / Proto-Oncogene Proteins:
                      metabolism / Repressor Proteins: genetics / E1A-Associated
                      p300 Protein: genetics / Adult (Other) / BCOR (Other) /
                      EP300 (Other) / Biomarkers, Tumor (NLM Chemicals) / BCOR
                      protein, human (NLM Chemicals) / Proto-Oncogene Proteins
                      (NLM Chemicals) / Repressor Proteins (NLM Chemicals) / EP300
                      protein, human (NLM Chemicals) / E1A-Associated p300 Protein
                      (NLM Chemicals)},
      cin          = {B300 / HD01 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B062-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36782314},
      pmc          = {pmc:PMC9926824},
      doi          = {10.1186/s40478-023-01523-y},
      url          = {https://inrepo02.dkfz.de/record/271000},
}