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@ARTICLE{Siegfried:142875,
      author       = {A. Siegfried and A. Rousseau and C.-A. Maurage and S.
                      Pericart and Y. Nicaise and F. Escudie and D. Grand and A.
                      Delrieu and A. Gomez-Brouchet and S. Le Guellec and C.
                      Franchet and S. Boetto and M. Vinchon and J.-C. Sol and
                      F.-E. Roux and V. Rigau and A.-I. Bertozzi and D. Jones$^*$
                      and D. Figarella-Branger and E. Uro-Coste},
      title        = {{EWSR}1-{PATZ}1 gene fusion may define a new glioneuronal
                      tumor entity.},
      journal      = {Brain pathology},
      volume       = {29},
      number       = {1},
      issn         = {1015-6305},
      address      = {Oxford},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2019-00505},
      pages        = {53 - 62},
      year         = {2019},
      abstract     = {We investigated the challenging diagnostic case of a
                      ventricular cystic glioneuronal tumor with papillary
                      features, by RNA sequencing using the Illumina TruSight RNA
                      Fusion panel. We did not retrieve the SLC44A1-PRKCA fusion
                      gene specific for papillary glioneuronal tumor, but an
                      EWSR1-PATZ1 fusion transcript. RT-PCR followed by Sanger
                      sequencing confirmed the EWSR1-PATZ1 fusion. It matched with
                      canonic EWSR1 fusion oncogene, juxtaposing the entire
                      N-terminal transcriptional activation domain of EWSR1 gene
                      and the C-terminal DNA binding domain of a transcription
                      factor gene, PATZ1. PATZ1 protein belongs to the BTB-ZF
                      (broad-complex, tramtrack and bric-à-brac -zinc finger)
                      family. It directly regulates Pou5f1 and Nanog and is
                      essential to maintaining stemness by inhibiting neural
                      differentiation. EWSR1-PATZ1 fusion is a rare event in
                      tumors: it was only reported in six round cell sarcomas and
                      in three gliomas of three exclusively molecular studies. The
                      first reported glioma was a BRAFV600E negative
                      ganglioglioma, the second a BRAFV600E negative glioneuronal
                      tumor, not otherwise specified and the third, very recently
                      reported, a high grade glioma, not otherwise specified. In
                      our study, forty BRAFV600E negative gangliogliomas were
                      screened by FISH using EWSR1 break-apart probes. We
                      performed methylation profiling for the index case and for
                      seven out of the ten FISH positive cases. The index case
                      clustered apart from other pediatric low grade glioneuronal
                      entities, and specifically from the well-defined
                      ganglioglioma methylation group. An additional pediatric
                      intraventricular ganglioglioma clustered slightly more
                      closely with ganglioglioma, but showed differences from the
                      main ganglioglioma group and similarities with the index
                      case. Both cases harbored copy number variations at the
                      PATZ1 locus. EWSR1-PATZ1 gene fusion might define a new type
                      of glioneuronal tumors, distinct from gangliogliomas.},
      cin          = {B360 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)L101-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29679497},
      doi          = {10.1111/bpa.12619},
      url          = {https://inrepo02.dkfz.de/record/142875},
}