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@ARTICLE{Sievers:144145,
      author       = {P. Sievers$^*$ and R. Appay and D. Schrimpf$^*$ and D.
                      Stichel$^*$ and D. E. Reuss$^*$ and A. K. Wefers$^*$ and A.
                      Reinhardt$^*$ and R. Coras and V. C. Ruf and S. Schmid and
                      K. de Stricker and H. B. Boldt and B. W. Kristensen and J.
                      K. Petersen and B. P. Ulhøi and M. Gardberg and E. Aronica
                      and M. Hasselblatt and W. Brück and F. Bielle and K.
                      Mokhtari and B. Lhermitte and W. Wick$^*$ and C.
                      Herold-Mende and D. Hänggi and S. Brandner and F.
                      Giangaspero and D. Capper and E. Rushing and P. Wesseling
                      and S. M. Pfister$^*$ and D. Figarella-Branger and A. von
                      Deimling$^*$ and F. Sahm$^*$ and D. Jones$^*$},
      title        = {{R}osette-forming glioneuronal tumors share a distinct
                      {DNA} methylation profile and mutations in {FGFR}1, with
                      recurrent co-mutation of {PIK}3{CA} and {NF}1.},
      journal      = {Acta neuropathologica},
      volume       = {138},
      number       = {3},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2019-01694},
      pages        = {497-504},
      year         = {2019},
      abstract     = {Rosette-forming glioneuronal tumor (RGNT) is a rare brain
                      neoplasm that primarily affects young adults. Although
                      alterations affecting the mitogen-activated protein kinase
                      (MAPK) and phosphoinositide 3-kinase (PI3K) signaling
                      pathway have been associated with this low-grade entity,
                      comprehensive molecular investigations of RGNT in larger
                      series have not been performed to date, and an integrated
                      view of their genetic and epigenetic profiles is still
                      lacking. Here we describe a genome-wide DNA methylation and
                      targeted sequencing-based characterization of a molecularly
                      distinct class of tumors (n = 30), initially identified
                      through genome-wide DNA methylation screening among a cohort
                      of > 30,000 tumors, of which most were diagnosed
                      histologically as RGNT. FGFR1 hotspot mutations were
                      observed in all tumors analyzed, with co-occurrence of
                      PIK3CA mutations in about two-thirds of the cases $(63\%).$
                      Additional loss-of-function mutations in the tumor
                      suppressor gene NF1 were detected in a subset of cases
                      $(33\%).$ Notably, in contrast to most other low-grade
                      gliomas, these tumors often displayed co-occurrence of two
                      or even all three of these mutations. Our data highlight
                      that molecularly defined RGNTs are characterized by highly
                      recurrent combined genetic alterations affecting both MAPK
                      and PI3K signaling pathways. Thus, these two pathways appear
                      to synergistically interact in the formation of RGNT, and
                      offer potential therapeutic targets for this disease.},
      cin          = {B300 / B320 / B062 / B360},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)B320-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B360-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31250151},
      doi          = {10.1007/s00401-019-02038-4},
      url          = {https://inrepo02.dkfz.de/record/144145},
}