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@ARTICLE{Bchli:136974,
      author       = {H. Bächli and J. Ecker$^*$ and C. M. van Tilburg$^*$ and
                      D. Sturm$^*$ and F. Selt$^*$ and F. Sahm$^*$ and C.
                      Koelsche$^*$ and K. B. Grund$^*$ and C. Sutter and T.
                      Pietsch and H. Witt$^*$ and C. Herold-Mende and A. von
                      Deimling$^*$ and D. Jones$^*$ and S. Pfister$^*$ and O.
                      Witt$^*$ and T. Milde$^*$},
      title        = {{M}olecular {D}iagnostics in {P}ediatric {B}rain {T}umors:
                      {I}mpact on {D}iagnosis and {C}linical {D}ecision-{M}aking -
                      {A} {S}elected {C}ase {S}eries.},
      journal      = {Klinische Pädiatrie},
      volume       = {230},
      number       = {6},
      issn         = {1439-3824},
      address      = {Stuttgart},
      publisher    = {Thieme},
      reportid     = {DKFZ-2018-01402},
      pages        = {305-313},
      year         = {2018},
      note         = {online first},
      abstract     = {Central nervous system (CNS) tumors account for the highest
                      mortality among pediatric malignancies. Accurate diagnosis
                      is essential for optimal clinical management. The increasing
                      use of molecular diagnostics has opened up novel
                      possibilities for more precise classification of CNS tumors.
                      We here report a single-institutional collection of
                      pediatric CNS tumor cases that underwent a refinement or a
                      change of diagnosis after completion of molecular analysis
                      that affected clinical decision-making including the
                      application of molecularly informed targeted therapies. 13
                      pediatric CNS tumors were analyzed by conventional
                      histology, immunohistochemistry, and molecular diagnostics
                      including DNA methylation profiling in 12 cases, DNA
                      sequencing in 8 cases and RNA sequencing in 3 cases. 3
                      tumors had a refinement of diagnosis upon molecular testing,
                      and 6 tumors underwent a change of diagnosis. Targeted
                      therapy was initiated in 5 cases. An underlying cancer
                      predisposition syndrome was detected in 5 cases. Although
                      this case series, retrospective and not population based,
                      has its limitations, insight can be gained regarding
                      precision of diagnosis and clinical management of the
                      patients in selected cases. Accuracy of diagnosis was
                      improved in the cases presented here by the addition of
                      molecular diagnostics, impacting clinical management of
                      affected patients, both in the first-line as well as in the
                      follow-up setting. This additional information may support
                      the clinical decision making in the treatment of challenging
                      pediatric CNS tumors. Prospective testing of the clinical
                      value of molecular diagnostics is currently underway.},
      cin          = {G340 / L101 / B062 / G380},
      ddc          = {610},
      cid          = {I:(DE-He78)G340-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)G380-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29996150},
      doi          = {10.1055/a-0637-9653},
      url          = {https://inrepo02.dkfz.de/record/136974},
}