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@ARTICLE{vonHoff:162800,
      author       = {von Hoff, Katja and Haberler, Christine and
                      Schmitt-Hoffner, Felix and Schepke, Elizabeth and de Rojas,
                      Teresa and Jacobs, Sandra and Zapotocky, Michal and
                      Sumerauer, David and Perek-Polnik, Marta and Dufour,
                      Christelle and van Vuurden, Dannis and Slavc, Irene and
                      Gojo, Johannes and Pickles, Jessica C and Gerber, Nicolas U
                      and Massimino, Maura and Gil-da-Costa, Maria Joao and
                      Garami, Miklos and Kumirova, Ella and Sehested, Astrid and
                      Scheie, David and Cruz, Ofelia and Moreno, Lucas and Cho,
                      Jaeho and Zeller, Bernward and Bovenschen, Niels and
                      Grotzer, Michael and Alderete, Daniel and Snuderl, Matija
                      and Zheludkova, Olga and Golanov, Andrey and Okonechnikov,
                      Konstantin and Mynarek, Martin and Juhnke, Björn Ole and
                      Rutkowski, Stefan and Schüller, Ulrich and Pizer, Barry and
                      von Zezschwitz, Barbara and Kwiecien, Robert and Wechsung,
                      Maximilian and Konietschke, Frank and Hwang, Eugene I and
                      Sturm, Dominik and Pfister, Stefan M and von Deimling,
                      Andreas and Rushing, Elisabeth J and Ryzhova, Marina and
                      Hauser, Peter and Łastowska, Maria and Wesseling, Pieter
                      and Giangaspero, Felice and Hawkins, Cynthia and
                      Figarella-Branger, Dominique and Eberhart, Charles and
                      Burger, Peter and Gessi, Marco and Korshunov, Andrey and
                      Jacques, Tom S and Capper, David and Pietsch, Torsten and
                      Kool, Marcel},
      title        = {{T}herapeutic implications of improved molecular
                      diagnostics for rare {CNS} embryonal tumor entities: results
                      of an international, retrospective study.},
      journal      = {Neuro-Oncology},
      volume       = {23},
      number       = {9},
      issn         = {1523-5866},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DZNE-2021-01455},
      pages        = {1597 - 1611},
      year         = {2021},
      abstract     = {Only few data are available on treatment-associated
                      behavior of distinct rare CNS embryonal tumor entities
                      previously treated as 'CNS-primitive neuroectodermal tumors'
                      (CNS-PNET). Respective data on specific entities, including
                      CNS neuroblastoma, FOXR2 activated (CNS NB-FOXR2), and
                      embryonal tumors with multilayered rosettes (ETMR) are
                      needed for development of differentiated treatment
                      strategies.Within this retrospective, international study,
                      tumor samples of clinically well-annotated patients with the
                      original diagnosis of CNS-PNET were analyzed using DNA
                      methylation arrays (n = 307). Additional cases (n = 66) with
                      DNA methylation pattern of CNS NB-FOXR2 were included
                      irrespective of initial histological diagnosis. Pooled
                      clinical data (n = 292) were descriptively analyzed.DNA
                      methylation profiling of 'CNS-PNET' classified 58 $(19\%)$
                      cases as ETMR, 57 $(19\%)$ as high-grade glioma (HGG), 36
                      $(12\%)$ as CNS NB-FOXR2, and $89(29\%)$ cases were
                      classified into 18 other entities. Sixty-seven $(22\%)$
                      cases did not show DNA methylation patterns similar to
                      established CNS tumor reference classes. Best treatment
                      results were achieved for CNS NB-FOXR2 patients (5-year PFS:
                      $63\%$ ± $7\%,$ OS: $85\%$ ± $5\%,$ n = 63), with 35/42
                      progression-free survivors after upfront craniospinal
                      irradiation (CSI) and chemotherapy. The worst outcome was
                      seen for ETMR and HGG patients with 5-year PFS of $18\%$ ±
                      $6\%$ and $22\%$ ± $7\%,$ and 5-year OS of $24\%$ ± $6\%$
                      and $25\%$ ± $7\%,$ respectively.The historically reported
                      poor outcome of CNS-PNET patients becomes highly variable
                      when tumors are molecularly classified based on DNA
                      methylation profiling. Patients with CNS NB-FOXR2 responded
                      well to current treatments and a standard-risk CSI-based
                      regimen may be prospectively evaluated. The poor outcome of
                      ETMR across applied treatment strategies substantiates the
                      necessity for evaluation of novel treatments.},
      keywords     = {Brain Neoplasms: diagnosis / Brain Neoplasms: genetics /
                      Brain Neoplasms: therapy / Central Nervous System Neoplasms:
                      diagnosis / Central Nervous System Neoplasms: genetics /
                      Central Nervous System Neoplasms: therapy / Forkhead
                      Transcription Factors / Humans / Neoplasms, Germ Cell and
                      Embryonal: diagnosis / Neoplasms, Germ Cell and Embryonal:
                      genetics / Neoplasms, Germ Cell and Embryonal: therapy /
                      Neuroectodermal Tumors, Primitive: diagnosis /
                      Neuroectodermal Tumors, Primitive: genetics /
                      Neuroectodermal Tumors, Primitive: therapy / Pathology,
                      Molecular / Retrospective Studies / CNS NB-FOXR2 (Other) /
                      CNS embryonal tumor (Other) / CNS-PNET (Other) / DNA
                      methylation profiling (Other) / ETMR (Other) / FOXR2
                      protein, human (NLM Chemicals) / Forkhead Transcription
                      Factors (NLM Chemicals)},
      cin          = {Brainbank Unit Bonn},
      ddc          = {610},
      cid          = {I:(DE-2719)1011009},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34077956},
      pmc          = {pmc:PMC8408859},
      doi          = {10.1093/neuonc/noab136},
      url          = {https://pub.dzne.de/record/162800},
}