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@ARTICLE{Schweizer:128210,
      author       = {Y. Schweizer and Z. Meszaros and D. Jones$^*$ and C.
                      Koelsche$^*$ and M. Boudalil$^*$ and P. Fiesel$^*$ and D.
                      Schrimpf$^*$ and R. M. Piro and S. Brehmer and A. von
                      Deimling$^*$ and U. Kerl and M. Seiz-Rosenhagen and D.
                      Capper$^*$},
      title        = {{M}olecular {T}ransition of an {A}dult {L}ow-{G}rade
                      {B}rain {T}umor to an {A}typical {T}eratoid/{R}habdoid
                      {T}umor {O}ver a {T}ime-{C}ourse of 14 {Y}ears.},
      journal      = {Journal of neuropathology and experimental neurology},
      volume       = {76},
      number       = {8},
      issn         = {1554-6578},
      address      = {Oxford},
      publisher    = {Oxford University Press},
      reportid     = {DKFZ-2017-04227},
      pages        = {655 - 664},
      year         = {2017},
      abstract     = {Atypical teratoid/rhabdoid tumor (AT/RT) of the central
                      nervous system is a highly malignant, pediatric brain tumor
                      typically arising de novo. Inactivation of SMARCB1 is a
                      defining molecular event. We present here a rare case of an
                      adult (35 years) low-grade SMARCB1-deleted brain tumor
                      with transition into prototypical AT/RT over 14 years.
                      Molecular analysis was performed for 3 tumor presentations
                      including copy number analysis, DNA methylation analysis
                      (450k), and whole exome sequencing. We detected the
                      identical somatic SMARCB1 deletion at all 3 time-points. In
                      an unsupervised hierarchical clustering of methylation data
                      together with 127 reference cases comprising 9 brain tumor
                      classes all 3 manifestations clustered with AT/RT. Exome
                      sequencing revealed an increase of mutational burden over
                      time. The acquired mutations and additional copy number
                      changes did not affect known cancer genes. In conclusion, we
                      demonstrate molecular changes associated with histological
                      and clinical transition of a low-grade brain tumor to an
                      adult AT/RT. Our observation of a stable disease course for
                      nearly 10 years in a tumor with SMARCB1 loss and an
                      AT/RT-like DNA methylation profile indicates that caution
                      may be required in the diagnostic interpretation of such
                      findings in adult patients.},
      keywords     = {SMARCB1 Protein (NLM Chemicals) / SMARCB1 protein, human
                      (NLM Chemicals) / Phosphopyruvate Hydratase (NLM Chemicals)},
      cin          = {B062 / G380 / L201 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)G380-20160331 /
                      I:(DE-He78)L201-20160331 / I:(DE-He78)L101-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28789476},
      doi          = {10.1093/jnen/nlx044},
      url          = {https://inrepo02.dkfz.de/record/128210},
}