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@ARTICLE{Sievers:164298,
      author       = {P. Sievers$^*$ and M. Sill$^*$ and D. Schrimpf$^*$ and D.
                      Stichel$^*$ and D. Reuß$^*$ and D. Sturm$^*$ and J. Hench
                      and S. Frank and L. Krskova and A. Vicha and M. Zapotocky
                      and B. Bison and D. Castel and J. Grill and M.-A. Debily$^*$
                      and P. N. Harter$^*$ and M. Snuderl and C. M. Kramm and G.
                      Reifenberger$^*$ and A. Korshunov$^*$ and N. Jabado and P.
                      Wesseling and W. Wick$^*$ and D. A. Solomon and A. Perry and
                      T. S. Jacques and C. Jones and O. Witt$^*$ and S.
                      Pfister$^*$ and A. von Deimling$^*$ and D. Jones$^*$ and F.
                      Sahm$^*$},
      title        = {{A} subset of pediatric-type thalamic gliomas share a
                      distinct {DNA} methylation profile, {H}3{K}27me3 loss and
                      frequent alteration of {EGFR}.},
      journal      = {Neuro-Oncology},
      volume       = {23},
      number       = {1},
      issn         = {1523-5866},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2020-02381},
      pages        = {34-43},
      year         = {2021},
      note         = {2021 Jan 30;23(1):34-43 #EA:B360#LA:B300#},
      abstract     = {Malignant astrocytic gliomas in children show a remarkable
                      biological and clinical diversity. Small in-frame insertions
                      or missense mutations in the EGFR gene have recently been
                      identified in a distinct subset of pediatric-type bithalamic
                      gliomas with a unique DNA methylation pattern.Here, we
                      investigated an epigenetically homogeneous cohort of
                      malignant gliomas (n=58) distinct from other subtypes and
                      enriched for pediatric cases and thalamic location, in
                      comparison with this recently identified subtype of
                      pediatric bithalamic gliomas.EGFR gene amplification was
                      detected in 16/58 $(27\%)$ tumors, and missense mutations or
                      small in-frame insertions in EGFR were found in 20/30 tumors
                      with available sequencing data $(67\%;$ five of them
                      co-occurring with EGFR amplification). Additionally, eight
                      of the 30 tumors $(27\%)$ harbored an H3.1 or H3.3 K27M
                      mutation (six of them with a concomitant EGFR alteration).
                      All tumors tested showed loss of H3K27me3 staining, with
                      evidence of EZHIP overexpression in the H3 wildtype cases.
                      Although some tumors indeed showed a bithalamic growth
                      pattern, a significant proportion of tumors occurred in the
                      unilateral thalamus or in other (predominantly midline)
                      locations.Our findings present a distinct molecular class of
                      pediatric-type malignant gliomas largely overlapping with
                      the recently reported bithalamic gliomas characterized by
                      EGFR alteration, but additionally showing a broader spectrum
                      of EGFR alterations and tumor localization. Global H3K27me3
                      loss in this group appears to be mediated by either H3 K27
                      mutation or EZHIP overexpression. EGFR inhibition may
                      represent a potential therapeutic strategy in these highly
                      aggressive gliomas.},
      cin          = {HD01 / ED01 / B300 / B062 / B320 / B360},
      ddc          = {610},
      cid          = {I:(DE-He78)HD01-20160331 / I:(DE-He78)ED01-20160331 /
                      I:(DE-He78)B300-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)B320-20160331 / 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:33130881},
      doi          = {10.1093/neuonc/noaa251},
      url          = {https://inrepo02.dkfz.de/record/164298},
}