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@ARTICLE{Goschzik:126609,
      author       = {T. Goschzik and A. Zur Mühlen and G. Kristiansen and C.
                      Haberler and H. Stefanits and C. Friedrich and K. von Hoff
                      and S. Rutkowski and S. Pfister$^*$ and T. Pietsch},
      title        = {{M}olecular stratification of medulloblastoma: comparison
                      of histological and genetic methods to detect {W}nt
                      activated tumours.},
      journal      = {Neuropathology $\&$ applied neurobiology},
      volume       = {41},
      number       = {2},
      issn         = {0305-1846},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2017-02637},
      pages        = {135 - 144},
      year         = {2015},
      abstract     = {Wnt activation in medulloblastomas is associated with good
                      outcome. Upfront testing and risk-adapted stratification of
                      patients will be done in future clinical studies. In a
                      cohort of 186 paediatric medulloblastomas our aim was to
                      identify the optimal methods in standard clinical practice
                      to detect this subgroup.Nuclear accumulation of β-catenin
                      was analysed by immunohistochemistry (IHC). DNA of FFPE
                      tissue was amplified by PCR for single-strand conformation
                      polymorphism analysis and direct sequencing of CTNNB1 exon
                      3. Copy number of chromosome 6 was analysed by multiplex
                      ligation-dependent probe amplification and molecular
                      inversion profiling.Different automated immunostaining
                      systems showed similar results. Twenty-one of 186 samples
                      had nuclear accumulation in $≥5\%$ of cells, 17 samples
                      showed $<5\%$ β-catenin positive nuclei. None of these 17
                      cases had CTNNB1 mutations, but 18 of 21 cases with $≥5\%$
                      accumulation did, identifying these 18 cases as Wnt-subgroup
                      medulloblastomas. Fifteen of 18 mutated cases showed
                      monosomy 6, 3 had balanced chromosome 6. On the contrary,
                      none of the CTNNB1 wild-type tumours had monosomy 6.Standard
                      neuropathological evaluation of medulloblastoma samples
                      should include IHC of β-catenin because tumours with high
                      nuclear accumulation of β-catenin most probably belong to
                      the Wnt subgroup of medulloblastomas. Still, IHC alone may
                      be insufficient to detect all Wnt cases. Similarly,
                      chromosome 6 aberrations were not present in all
                      CTNNB1-mutated cases. Therefore, we conclude that sequencing
                      analysis of CTNNB1 exon 3 in combination with β-catenin IHC
                      (possibly as pre-screening method) is a feasible and
                      cost-efficient way for the determination of Wnt
                      medulloblastomas.},
      keywords     = {CTNNB1 protein, human (NLM Chemicals) / beta Catenin (NLM
                      Chemicals)},
      cin          = {B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24894640},
      doi          = {10.1111/nan.12161},
      url          = {https://inrepo02.dkfz.de/record/126609},
}