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@ARTICLE{Gojo:182533,
      author       = {J. Gojo$^*$ and M. Kjaersgaard and B. V. Zezschwitz and D.
                      Capper$^*$ and A. Tietze and M. Kool$^*$ and C. Haberler and
                      B. Pizer and K. V. Hoff},
      title        = {{R}are embryonal and sarcomatous central nervous system
                      tumours: {S}tate-of-the art and future directions.},
      journal      = {European journal of medical genetics},
      volume       = {66},
      number       = {1},
      issn         = {1729-7212},
      address      = {New York, NY [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2022-02725},
      pages        = {104660},
      year         = {2023},
      note         = {#EA:B062# / 2023 Nov 7;66(1):104660},
      abstract     = {The introduction of molecular methods into the diagnostics
                      of central nervous system (CNS) tumours and the subsequent
                      deciphering of their molecular heterogeneity has resulted in
                      a significant impact on paediatric neurooncology.
                      Particularly in the field of rare embryonal and sarcomatous
                      CNS tumours, novel tumour types have been delineated and
                      introduced in the recent 5th edition of the WHO
                      classification of CNS tumours. The rarity and novelty of
                      these tumour types result in diagnostic and therapeutic
                      challenges. Apart from distinct histopathological and
                      molecular features, these tumour types exhibit
                      characteristic clinical properties and require different
                      therapeutic approaches for optimal patient management.
                      However, based on the limited availability of clinical data,
                      current therapeutic recommendations have to be based on data
                      from small, predominantly retrospective patient cohorts.
                      Within this article, we provide guidance for diagnostic
                      work-up and clinical management of rare embryonal CNS
                      tumours ('embryonal tumour with multi-layered rosettes',
                      ETMR; 'CNS neuroblastoma, FOXR2-activated', CNS NB-FOXR2;
                      'CNS tumour with BCOR-ITD, CNS BCOR-ITD) and rare
                      sarcomatous CNS tumours ('primary intracranial sarcoma,
                      DICER1-mutant', CNS DICER1; 'CIC-rearranged sarcoma', CNS
                      CIC). By emphasizing the significant consequences on patient
                      management in paediatric CNS tumours, we want to encourage
                      wide implementation of comprehensive molecular diagnostics
                      and stress the importance for joint international efforts to
                      further collect and study these rare tumour types.},
      keywords     = {CNS tumour (Other) / Clinical management (Other) /
                      Embryonal (Other) / Molecular diagnostics (Other) /
                      Paediatric (Other) / Sarcoma (Other)},
      cin          = {B062 / HD01 / BE01},
      ddc          = {570},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)BE01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36356895},
      doi          = {10.1016/j.ejmg.2022.104660},
      url          = {https://inrepo02.dkfz.de/record/182533},
}