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@ARTICLE{Banan:157450,
      author       = {R. Banan and D. Stichel$^*$ and A. Bleck and B. Hong and U.
                      Lehmann and A. Suwala$^*$ and A. Reinhardt$^*$ and D.
                      Schrimpf$^*$ and R. Buslei and C. Stadelmann and K. Ehlert
                      and M. Prinz and T. Acker and J. Schittenhelm and D. Kaul
                      and L. Schweizer$^*$ and D. Capper$^*$ and P. Harter$^*$ and
                      N. Etminan and D. T. W. Jones$^*$ and S. M. Pfister$^*$ and
                      C. Herold-Mende and W. Wick$^*$ and F. Sahm$^*$ and A. von
                      Deimling$^*$ and C. Hartmann and D. Reuß$^*$},
      title        = {{I}nfratentorial {IDH}-mutant astrocytoma is a distinct
                      subtype.},
      journal      = {Acta neuropathologica},
      volume       = {140},
      number       = {4},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2020-01629},
      pages        = {569-581},
      year         = {2020},
      note         = {2020 Oct;140(4):569-581#LA:B300#},
      abstract     = {Diffuse IDH-mutant astrocytic tumors are rarely diagnosed
                      in the cerebellum or brainstem. In this multi-institutional
                      study, we characterized a series of primary infratentorial
                      IDH-mutant astrocytic tumors with respect to clinical and
                      molecular parameters. We report that about $80\%$ of IDH
                      mutations in these tumors are of non-IDH1-R132H variants
                      which are rare in supratentorial astrocytomas. Most
                      frequently, IDH1-R132C/G and IDH2-R172S/G mutations were
                      present. Moreover, the frequencies of ATRX-loss and MGMT
                      promoter methylation, which are typically associated with
                      IDH mutations in supratentorial astrocytic tumors, were
                      significantly lower in the infratentorial compartment. Gene
                      panel sequencing revealed two samples with
                      IDH1-R132C/H3F3A-K27M co-mutations. Genome-wide DNA
                      methylation as well as chromosomal copy number profiling
                      provided further evidence for a molecular distinctiveness of
                      infratentorial IDH-mutant astrocytomas. Clinical outcome of
                      patients with infratentorial IDH-mutant astrocytomas is
                      significantly better than that of patients with diffuse
                      midline gliomas, H3K27M-mutant (p < 0.005) and
                      significantly worse than that of patients with
                      supratentorial IDH-mutant astrocytomas (p = 0.028). The
                      presented data highlight the very existence and
                      distinctiveness of infratentorial IDH-mutant astrocytomas
                      that have important implications for diagnostics and
                      prognostication. They imply that molecular testing is
                      critical for detection of these tumors, since many of these
                      tumors cannot be identified by immunohistochemistry applied
                      for the mutated IDH1-R132H protein or loss of ATRX.},
      cin          = {B300 / HD01 / BE01 / FM01 / B360 / B062 / B320},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)BE01-20160331 / I:(DE-He78)FM01-20160331 /
                      I:(DE-He78)B360-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)B320-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32776277},
      doi          = {10.1007/s00401-020-02194-y},
      url          = {https://inrepo02.dkfz.de/record/157450},
}