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@ARTICLE{Korshunov:167356,
      author       = {A. Korshunov$^*$ and K. Okonechnikov$^*$ and F.
                      Schmitt-Hoffner$^*$ and M. Ryzhova and F. Sahm$^*$ and D.
                      Stichel$^*$ and D. Schrimpf$^*$ and D. E. Reuss$^*$ and P.
                      Sievers$^*$ and A. K. Suwala$^*$ and E. Kumirova and O.
                      Zheludkova and A. Golanov and D. T. W. Jones$^*$ and S. M.
                      Pfister$^*$ and M. Kool$^*$ and A. von Deimling$^*$},
      title        = {{M}olecular analysis of pediatric {CNS}-{PNET} revealed
                      nosologic heterogeneity and potent diagnostic markers for
                      {CNS} neuroblastoma with {FOXR}2-activation.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {9},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2021-00302},
      pages        = {20},
      year         = {2021},
      note         = {#EA:B300#LA:B300#},
      abstract     = {Primitive neuroectodermal tumors of the central nervous
                      system (CNS-PNETs) are highly malignant neoplasms posing
                      diagnostic challenge due to a lack of defining molecular
                      markers. CNS neuroblastoma with forkhead box R2 (FOXR2)
                      activation $(CNS_NBL)$ emerged as a distinct pediatric brain
                      tumor entity from a pool previously diagnosed as primitive
                      neuroectodermal tumors of the central nervous system
                      (CNS-PNETs). Current standard of identifying $CNS_NBL$
                      relies on molecular analysis. We set out to establish
                      immunohistochemical markers allowing safely distinguishing
                      $CNS_NBL$ from morphological mimics. To this aim we analyzed
                      a series of 84 brain tumors institutionally diagnosed as
                      CNS-PNET. As expected, epigenetic analysis revealed
                      different methylation groups corresponding to the (1)
                      CNS-NBL $(24\%),$ (2) glioblastoma IDH wild-type subclass
                      H3.3 G34 $(26\%),$ (3) glioblastoma IDH wild-type subclass
                      MYCN $(21\%)$ and (4) ependymoma with $RELA_C11orf95$ fusion
                      $(29\%)$ entities. Transcriptome analysis of this series
                      revealed a set of differentially expressed genes
                      distinguishing $CNS_NBL$ from its mimics. Based on
                      RNA-sequencing data we established SOX10 and ANKRD55
                      expression as genes discriminating $CNS_NBL$ from other
                      tumors exhibiting CNS-PNET. Immunohistochemical detection of
                      combined expression of SOX10 and ANKRD55 clearly identifies
                      $CNS_NBL$ discriminating them to other hemispheric CNS
                      neoplasms harboring 'PNET-like' microscopic appearance.
                      Owing the rarity of $CNS_NBL,$ a confirmation of the
                      elaborated diagnostic IHC algorithm will be necessary in
                      prospective patient series.},
      keywords     = {CNS-PNET (Other) / FOXR2-activation (Other) / Neuroblastoma
                      (Other) / SOX10 (Other)},
      cin          = {B300 / HD01 / B062 / B360},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B062-20160331 / 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:33536079},
      doi          = {10.1186/s40478-021-01118-5},
      url          = {https://inrepo02.dkfz.de/record/167356},
}