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@ARTICLE{Pags:180677,
      author       = {M. Pagès and M.-A. Debily and F. Fina and D. T. W.
                      Jones$^*$ and R. Saffroy and D. Castel and T. Blauwblomme
                      and A. Métais and M. Bourgeois and E. Lechapt-Zalcman and
                      A. Tauziède-Espariat and F. Andreiuolo and F. Chrétien and
                      J. Grill and N. Boddaert and D. Figarella-Branger and R.
                      Beroukhim and P. Varlet},
      title        = {{T}he genomic landscape of dysembryoplastic neuroepithelial
                      tumours and a comprehensive analysis of recurrent cases.},
      journal      = {Neuropathology $\&$ applied neurobiology},
      volume       = {48},
      number       = {6},
      issn         = {0305-1846},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2022-01477},
      pages        = {e12834},
      year         = {2022},
      note         = {2022 Oct;48(6):e12834},
      abstract     = {Dysembryoplastic neuroepithelial tumour (DNT) is a
                      glioneuronal tumour that is challenging to diagnose, with a
                      wide spectrum of histological features. Three
                      histopathological patterns have been described: specific
                      DNTs (both the simple form and the complex form) comprising
                      the specific glioneuronal element, and also the
                      non-specific/diffuse form which lacks it, and has unclear
                      phenotype-genotype correlations with numerous differential
                      diagnoses.We used targeted methods (IHC, FISH, targeted
                      sequencing) and large-scale genomic methodologies including
                      DNA methylation profiling to perform an integrative analysis
                      to better characterize a large retrospective cohort of 82
                      DNTs, enriched for tumours that showed progression on
                      imaging.We confirmed that specific DNTs are characterized by
                      a single driver event with a high frequency of FGFR1
                      variants. However, a subset of DNA methylation-confirmed
                      DNTs harbour alternative genomic alterations to FGFR1
                      duplication/mutation. We also demonstrated that a subset of
                      DNTs sharing the same FGFR1 alterations can show in situ
                      progression. In contrast to the specific forms,
                      'non-specific/diffuse DNTs' corresponded to a heterogeneous
                      molecular group encompassing diverse, newly-described,
                      molecularly-distinct entities.Specific DNT is a homogeneous
                      group of tumours sharing characteristics of paediatric
                      low-grade gliomas: a quiet genome with a recurrent genomic
                      alteration in the RAS-MAPK signalling pathway, a distinct
                      DNA methylation profile, a good prognosis but showing
                      progression in some cases. The 'non-specific/diffuse DNTs'
                      subgroup encompasses various recently described
                      histo-molecular entities, such as PLNTY and diffuse
                      astrocytoma, MYB or MYBL1-altered.},
      keywords     = {DNA methylation profiling (Other) / Dysembryoplastic
                      neuroepithelial tumours (Other) / FGFR1 (Other) /
                      Glioneuronal tumours (Other) / Integrated diagnosis (Other)
                      / Isomorphic glioma (Other) / Molecular pathology (Other) /
                      PLNTY (Other) / Paediatric low-grade gliomas (Other)},
      cin          = {B360},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35836307},
      doi          = {10.1111/nan.12834},
      url          = {https://inrepo02.dkfz.de/record/180677},
}