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@ARTICLE{Korshunov:137689,
      author       = {A. Korshunov$^*$ and F. Sahm$^*$ and O. Zheludkova and A.
                      Golanov and D. Stichel$^*$ and D. Schrimpf$^*$ and M.
                      Ryzhova and A. Potapov and A. Habel$^*$ and J. Meyer$^*$ and
                      P. Lichter$^*$ and D. Jones$^*$ and A. von Deimling$^*$ and
                      S. Pfister$^*$ and M. Kool$^*$},
      title        = {{DNA}-methylation profiling is a method of choice for
                      molecular verification of pediatric {WNT} activated
                      medulloblastomas.},
      journal      = {Neuro-Oncology},
      volume       = {21},
      number       = {2},
      issn         = {1523-5866},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2018-01566},
      pages        = {214-221},
      year         = {2019},
      abstract     = {WNT activated medulloblastoma (WNT MB) represent a
                      well-characterized molecular variant accounting for
                      $10-15\%$ of all MB and is associated with a favorable
                      clinical outcome. Patients with localized WNT MBs could
                      benefit from de-intensification of combined treatment, which
                      would require an accurate diagnosis of these tumors.
                      However, despite the presence of molecular features related
                      with a WNT MB signature (nuclear ß-catenin
                      immunoexpression, CTNNB1 mutation and monosomy 6), a prompt
                      and reliable diagnostic verification of these tumors is not
                      yet feasible.In the current study, we analyzed 78 samples of
                      WNT MB treated in a single institute through genome-wide DNA
                      methylation and targeted next generation sequencing to
                      elaborate an optimal method for WNT MB molecular
                      verification.We found that DNA-methylation profiling
                      discloses significant advantages for molecular diagnostic of
                      WNT MB. All other 'routine' methods applied such as
                      ß-catenin immunohistochemistry, CTNNB1 mutation analysis,
                      and detection of monosomy 6 failed to identify all WNT MB
                      cases. Survival analysis revealed that application of a
                      reduced radiotherapy protocol for WNT MB treatment had no
                      influence on patients' survival. Only one patient died due
                      to local relapse but recurrent tumor was pathologically and
                      molecularly diagnosed as a secondary glioblastoma.1. DNA
                      methylation analysis should be considered as a method of
                      choice for further clinically relevant stratification of WNT
                      MB and for correct diagnosis of the recurrent tumors. 2. WNT
                      MB patients with localized disease could benefit from
                      treatment de-intensification.},
      cin          = {B300 / B060 / B062 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30252101},
      doi          = {10.1093/neuonc/noy155},
      url          = {https://inrepo02.dkfz.de/record/137689},
}