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@ARTICLE{Merino:127097,
      author       = {D. M. Merino and A. Shlien and A. Villani and M. Pienkowska
                      and S. Mack and V. Ramaswamy and D. Shih and R. Tatevossian
                      and A. Novokmet and S. Choufani and R. Dvir and M. Ben-Arush
                      and B. T. Harris and E. I. Hwang and R. Lulla and S.
                      Pfister$^*$ and M. I. Achatz and N. Jabado and J. L. Finlay
                      and R. Weksberg and E. Bouffet and C. Hawkins and M. D.
                      Taylor and U. Tabori and D. W. Ellison and R. J. Gilbertson
                      and D. Malkin},
      title        = {{M}olecular characterization of choroid plexus tumors
                      reveals novel clinically relevant subgroups.},
      journal      = {Clinical cancer research},
      volume       = {21},
      number       = {1},
      issn         = {1557-3265},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {AACR},
      reportid     = {DKFZ-2017-03123},
      pages        = {184 - 192},
      year         = {2015},
      abstract     = {To investigate molecular alterations in choroid plexus
                      tumors (CPT) using a genome-wide high-throughput approach to
                      identify diagnostic and prognostic signatures that will
                      refine tumor stratification and guide therapeutic
                      options.One hundred CPTs were obtained from a
                      multi-institutional tissue and clinical database.
                      Copy-number (CN), DNA methylation, and gene expression
                      signatures were assessed for 74, 36, and 40 samples,
                      respectively. Molecular subgroups were correlated with
                      clinical parameters and outcomes.Unique molecular signatures
                      distinguished choroid plexus carcinomas (CPC) from choroid
                      plexus papillomas (CPP) and atypical choroid plexus
                      papillomas (aCPP); however, no significantly distinct
                      molecular alterations between CPPs and aCPPs were observed.
                      Allele-specific CN analysis of CPCs revealed two novel
                      subgroups according to DNA content: hypodiploid and
                      hyperdiploid CPCs. Hyperdiploid CPCs exhibited recurrent
                      acquired uniparental disomy events. Somatic mutations in
                      TP53 were observed in $60\%$ of CPCs. Investigating the
                      number of mutated copies of p53 per sample revealed a
                      high-risk group of patients with CPC carrying two copies of
                      mutant p53, who exhibited poor 5-year event-free (EFS) and
                      overall survival (OS) compared with patients with CPC
                      carrying one copy of mutant p53 (OS: $14.3\%,$ $95\%$
                      confidence interval, $0.71\%-46.5\%$ vs. $66.7\%,$
                      $28.2\%-87.8\%,$ respectively, P = 0.04; EFS: $0\%$ vs.
                      $44.4\%,$ $13.6\%-71.9\%,$ respectively, P = 0.03). CPPs and
                      aCPPs exhibited favorable survival.Our data demonstrate that
                      differences in CN, gene expression, and DNA methylation
                      signatures distinguish CPCs from CPPs and aCPPs; however,
                      molecular similarities among the papillomas suggest that
                      these two histologic subgroups are indeed a single molecular
                      entity. A greater number of copies of mutated TP53 were
                      significantly associated to increased tumor aggressiveness
                      and a worse survival outcome in CPCs. Collectively, these
                      findings will facilitate stratified approaches to the
                      clinical management of CPTs.},
      keywords     = {Neoplasm Proteins (NLM Chemicals) / TP53 protein, human
                      (NLM Chemicals) / Tumor Suppressor Protein p53 (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:25336695},
      doi          = {10.1158/1078-0432.CCR-14-1324},
      url          = {https://inrepo02.dkfz.de/record/127097},
}