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@ARTICLE{Stichel:137576,
      author       = {D. Stichel$^*$ and A. Ebrahimi$^*$ and D. Reuss$^*$ and D.
                      Schrimpf$^*$ and T. Ono and M. Shirahata and G.
                      Reifenberger$^*$ and M. Weller and D. Hänggi and W.
                      Wick$^*$ and C. Herold-Mende and M. Westphal and S. Brandner
                      and S. Pfister$^*$ and D. Capper$^*$ and F. Sahm$^*$ and A.
                      von Deimling$^*$},
      title        = {{D}istribution of {EGFR} amplification, combined chromosome
                      7 gain and chromosome 10 loss, and {TERT} promoter mutation
                      in brain tumors and their potential for the reclassification
                      of {IDH}wt astrocytoma to glioblastoma.},
      journal      = {Acta neuropathologica},
      volume       = {136},
      number       = {5},
      issn         = {1432-0533},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {DKFZ-2018-01456},
      pages        = {793-803},
      year         = {2018},
      abstract     = {EGFR amplification (EGFRamp), the combination of gain of
                      chromosome 7 and loss of chromosome 10 (7+/10-), and TERT
                      promoter mutation (pTERTmut) are alterations frequently
                      observed in adult IDH-wild-type (IDHwt) glioblastoma (GBM).
                      In the absence of endothelial proliferation and/or necrosis,
                      these alterations currently are considered to serve as a
                      surrogate for upgrading IDHwt diffuse or anaplastic
                      astrocytoma to GBM. Here, we set out to determine the
                      distribution of EGFRamp, 7+/10-, and pTERTmut by analyzing
                      high-resolution copy-number profiles and next-generation
                      sequencing data of primary brain tumors. In addition, we
                      addressed the question whether combinations of partial gains
                      on chromosome 7 and partial losses on chromosome 10
                      exhibited a diagnostic and prognostic value similar to that
                      of complete 7+/10-. Several such combinations proved
                      relevant and were combined as the 7/10 signature. Our
                      results demonstrate that EGFRamp and the 7/10 signature are
                      closely associated with IDHwt GBM. In contrast, pTERTmut is
                      less specific for IDHwt GBM. We conclude that, in the
                      absence of endothelial proliferation and/or necrosis, the
                      detection of EGFRamp is a very strong surrogate marker for
                      the diagnosis of GBM in IDHwt diffuse astrocytic tumors. The
                      7/10 signature is also a strong surrogate marker. However,
                      care should be taken to exclude pleomorphic
                      xanthoastrocytoma. pTERTmut is less restricted to this
                      entity and needs companion analysis by other molecular
                      markers to serve as a surrogate for diagnosing IDHwt GBM. A
                      combination of any two of EGFRamp, the 7/10 signature and
                      pTERTmut, is highly specific for IDHwt GBM and the
                      combination of all three alterations is frequent and
                      exclusively seen in IDHwt GBM.},
      cin          = {G380 / G370 / B062 / L101 / L201 / L401},
      ddc          = {610},
      cid          = {I:(DE-He78)G380-20160331 / I:(DE-He78)G370-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)L201-20160331 / I:(DE-He78)L401-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30187121},
      doi          = {10.1007/s00401-018-1905-0},
      url          = {https://inrepo02.dkfz.de/record/137576},
}