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@ARTICLE{Snuderl:136814,
      author       = {M. Snuderl and K. Kannan and E. Pfaff$^*$ and S. Wang and
                      J. M. Stafford and J. Serrano and A. Heguy and K. Ray and A.
                      Faustin and O. Aminova and I. Dolgalev and S. L. Stapleton
                      and D. Zagzag and L. Chiriboga and S. L. Gardner and J. H.
                      Wisoff and J. G. Golfinos and D. Capper$^*$ and V.
                      Hovestadt$^*$ and M. K. Rosenblum and D. G. Placantonakis
                      and S. E. LeBoeuf and T. Y. Papagiannakopoulos and L.
                      Chavez$^*$ and S. Ahsan and C. G. Eberhart and S.
                      Pfister$^*$ and D. Jones$^*$ and M. A. Karajannis},
      title        = {{R}ecurrent homozygous deletion of {DROSHA} and
                      microduplication of {PDE}4{DIP} in pineoblastoma.},
      journal      = {Nature Communications},
      volume       = {9},
      number       = {1},
      issn         = {2041-1723},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2018-01252},
      pages        = {2868},
      year         = {2018},
      abstract     = {Pineoblastoma is a rare and highly aggressive brain cancer
                      of childhood, histologically belonging to the spectrum of
                      primitive neuroectodermal tumors. Patients with germline
                      mutations in DICER1, a ribonuclease involved in microRNA
                      processing, have increased risk of pineoblastoma, but
                      genetic drivers of sporadic pineoblastoma remain unknown.
                      Here, we analyzed pediatric and adult pineoblastoma samples
                      (n = 23) using a combination of genome-wide DNA
                      methylation profiling and whole-exome sequencing or
                      whole-genome sequencing. Pediatric and adult pineoblastomas
                      showed distinct methylation profiles, the latter clustering
                      with lower-grade pineal tumors and normal pineal gland.
                      Recurrent variants were found in genes involved in PKA- and
                      NF-κB signaling, as well as in chromatin remodeling genes.
                      We identified recurrent homozygous deletions of DROSHA,
                      acting upstream of DICER1 in microRNA processing, and a
                      novel microduplication involving chromosomal region 1q21
                      containing PDE4DIP (myomegalin), comprising the ancient
                      DUF1220 protein domain. Expresion of PDE4DIP and DUF1220
                      proteins was present exclusively in pineoblastoma with
                      PDE4DIP gain.},
      cin          = {B062 / G380 / L101 / B060},
      ddc          = {500},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)G380-20160331 /
                      I:(DE-He78)L101-20160331 / I:(DE-He78)B060-20160331},
      pnm          = {319H - Addenda (POF3-319H)},
      pid          = {G:(DE-HGF)POF3-319H},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30030436},
      pmc          = {pmc:PMC6054684},
      doi          = {10.1038/s41467-018-05029-3},
      url          = {https://inrepo02.dkfz.de/record/136814},
}