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@ARTICLE{Pfaff:147769,
      author       = {E. Pfaff$^*$ and C. Aichmüller$^*$ and M. Sill$^*$ and D.
                      Stichel$^*$ and M. Snuderl and M. A. Karajannis and M. U.
                      Schuhmann and J. Schittenhelm and M. Hasselblatt and C.
                      Thomas and A. Korshunov$^*$ and M. Rhizova and A.
                      Wittmann$^*$ and A. Kaufhold$^*$ and M. Iskar$^*$ and P.
                      Ketteler and D. Lohmann and B. A. Orr and D. W. Ellison and
                      K. von Hoff and M. Mynarek and S. Rutkowski and F. Sahm$^*$
                      and A. von Deimling$^*$ and P. Lichter$^*$ and M. Kool$^*$
                      and M. Zapatka$^*$ and S. M. Pfister$^*$ and D. Jones$^*$},
      title        = {{M}olecular subgrouping of primary pineal parenchymal
                      tumors reveals distinct subtypes correlated with clinical
                      parameters and genetic alterations.},
      journal      = {Acta neuropathologica},
      volume       = {139},
      number       = {2},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2019-02743},
      pages        = {243-257},
      year         = {2020},
      note         = {#EA:B360#LA:B360#2020 Feb;139(2):243-257.},
      abstract     = {Tumors of the pineal region comprise several different
                      entities with distinct clinical and histopathological
                      features. Whereas some entities predominantly affect adults,
                      pineoblastoma (PB) constitutes a highly aggressive
                      malignancy of childhood with a poor outcome. PBs mainly
                      arise sporadically, but may also occur in the context of
                      cancer predisposition syndromes including DICER1 and RB1
                      germline mutation. With this study, we investigate
                      clinico-pathological subgroups of pineal tumors and further
                      characterize their biological features. We performed
                      genome-wide DNA methylation analysis in 195 tumors of the
                      pineal region and 20 normal pineal gland controls.
                      Copy-number profiles were obtained from DNA methylation
                      data; gene panel sequencing was added for 93 tumors and
                      analysis was further complemented by miRNA sequencing for 22
                      tumor samples. Unsupervised clustering based on DNA
                      methylation profiling separated known subgroups, like
                      pineocytoma, pineal parenchymal tumor of intermediate
                      differentiation, papillary tumor of the pineal region and
                      PB, and further distinct subtypes within these groups,
                      including three subtypes within the core PB subgroup. The
                      novel molecular subgroup Pin-RB includes cases of trilateral
                      retinoblastoma as well as sporadic pineal tumors with RB1
                      alterations, and displays similarities with retinoblastoma.
                      Distinct clinical associations discriminate the second novel
                      molecular subgroup PB-MYC from other PB cases. Alterations
                      within the miRNA processing pathway (affecting DROSHA, DGCR8
                      or DICER1) are found in about two thirds of cases in the
                      three core PB subtypes. Methylation profiling revealed
                      biologically distinct groups of pineal tumors with specific
                      clinical and molecular features. Our findings provide a
                      foundation for further clinical as well as molecular and
                      functional characterization of PB and other pineal tumors,
                      including the role of miRNA processing defects in
                      oncogenesis.},
      cin          = {B360 / B060 / B062 / B300 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B300-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31768671},
      doi          = {10.1007/s00401-019-02101-0},
      url          = {https://inrepo02.dkfz.de/record/147769},
}