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@ARTICLE{Liu:167588,
      author       = {A. P. Y. Liu and B. K. Li and E. Pfaff$^*$ and B. Gudenas
                      and A. Vasiljevic and B. A. Orr and C. Dufour and M. Snuderl
                      and M. A. Karajannis and M. K. Rosenblum and E. I. Hwang and
                      H.-K. Ng and J. R. Hansford and A. Szathmari and C.
                      Faure-Conter and T. E. Merchant and M. Levine and N. Bouvier
                      and K. von Hoff and M. Mynarek and S. Rutkowski and F.
                      Sahm$^*$ and M. Kool$^*$ and C. Hawkins and A. Onar-Thomas
                      and G. W. Robinson and A. Gajjar and S. M. Pfister$^*$ and
                      E. Bouffet and P. A. Northcott and D. T. W. Jones$^*$ and A.
                      Huang},
      title        = {{C}linical and molecular heterogeneity of pineal
                      parenchymal tumors: a consensus study.},
      journal      = {Acta neuropathologica},
      volume       = {141},
      number       = {5},
      issn         = {1432-0533},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2021-00448},
      pages        = {771-785},
      year         = {2021},
      note         = {2021 May;141(5):771-785 #LA:B360#},
      abstract     = {Recent genomic studies have shed light on the biology and
                      inter-tumoral heterogeneity underlying pineal parenchymal
                      tumors, in particular pineoblastomas (PBs) and pineal
                      parenchymal tumors of intermediate differentiation (PPTIDs).
                      Previous reports, however, had modest sample sizes and
                      lacked the power to integrate molecular and clinical
                      findings. The different proposed molecular group structures
                      also highlighted a need to reach consensus on a robust and
                      relevant classification system. We performed a meta-analysis
                      on 221 patients with molecularly characterized PBs and
                      PPTIDs. DNA methylation profiles were analyzed through
                      complementary bioinformatic approaches and molecular
                      subgrouping was harmonized. Demographic, clinical, and
                      genomic features of patients and samples from these pineal
                      tumor groups were annotated. Four clinically and
                      biologically relevant consensus PB groups were defined:
                      PB-miRNA1 (n = 96), PB-miRNA2 (n = 23), PB-MYC/FOXR2 (n =
                      34), and PB-RB1 (n = 25). A final molecularly distinct
                      group, designated PPTID (n = 43), comprised histological
                      PPTID and PBs. Genomic and transcriptomic profiling allowed
                      the characterization of oncogenic drivers for individual
                      tumor groups, specifically, alterations in the microRNA
                      processing pathway in PB-miRNA1/2, MYC amplification and
                      FOXR2 overexpression in PB-MYC/FOXR2, RB1 alteration in
                      PB-RB1, and KBTBD4 insertion in PPTID. Age at diagnosis, sex
                      predilection, and metastatic status varied significantly
                      among tumor groups. While patients with PB-miRNA2 and PPTID
                      had superior outcome, survival was intermediate for patients
                      with PB-miRNA1, and dismal for those with PB-MYC/FOXR2 or
                      PB-RB1. Reduced-dose CSI was adequate for patients with
                      average-risk, PB-miRNA1/2 disease. We systematically
                      interrogated the clinical and molecular heterogeneity within
                      pineal parenchymal tumors and proposed a consensus
                      nomenclature for disease groups, laying the groundwork for
                      future studies as well as routine use in tumor diagnostic
                      classification and clinical trial stratification.},
      keywords     = {Consensus (Other) / DNA methylation profiling (Other) /
                      Molecular groups (Other) / Pineal parenchymal tumors of
                      intermediate differentiation (Other) / Pineoblastoma (Other)
                      / Risk-stratification (Other)},
      cin          = {B360 / B300 / HD01 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)B300-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)B062-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33619588},
      doi          = {10.1007/s00401-021-02284-5},
      url          = {https://inrepo02.dkfz.de/record/167588},
}