% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Baroni:167455,
      author       = {L. Baroni and L. Sundaresan and A. Heled and H. Coltin and
                      K. W. Pajtler$^*$ and T. Lin and T. E. Merchant and R.
                      McLendon and C. Faria and M. Buntine and C. L. White and S.
                      M. Pfister$^*$ and M. R. Gilbert and T. S. Armstrong and E.
                      Bouffet and S. Kumar and M. D. Taylor and K. D. Aldape and
                      D. W. Ellison and N. G. Gottardo and M. Kool$^*$ and A.
                      Korshunov$^*$ and J. R. Hansford and V. Ramaswamy},
      title        = {{U}ltra high-risk {PFA} ependymoma is characterized by loss
                      of chromosome 6q.},
      journal      = {Neuro-Oncology},
      volume       = {23},
      number       = {8},
      issn         = {1523-5866},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2021-00359},
      pages        = {1360-1370},
      year         = {2021},
      note         = {2021 Aug 2;23(8):1360-1370},
      abstract     = {Within PF-EPN-A, 1q gain is a marker of poor prognosis,
                      however, it is unclear if within PF-EPN-A additional
                      cytogenetic events exist which can refine risk
                      stratification.Five independent non-overlapping cohorts of
                      PF-EPN-A were analyzed applying genome wide methylation
                      arrays for chromosomal and clinical variables predictive of
                      survival.Across all cohorts, 663 PF-EPN-A were identified.
                      The most common broad copy number event was 1q gain
                      $(18.9\%),$ followed by 6q loss $(8.6\%),$ 9p gain
                      $(6.5\%),$ and 22q loss $(6.8\%).$ Within 1q gain tumors,
                      there was significant enrichment for 6q loss $(17.7\%),$ 10q
                      loss $(16.9\%)$ and 16q loss $(15.3\%).$ The 5-year
                      progression free survival (PFS) was strikingly worse in
                      those patients with 6q loss, with a 5-year PFS of $50\%$
                      $(95\%CI$ $45-55\%)$ for balanced tumors, compared with
                      $32\%$ $(95\%CI$ $24-44\%)$ for 1q gain only, $7.3\%$
                      $(95\%CI$ $2.0-27\%)$ for 6q loss only and 0 for both 1q
                      gain and 6q loss (p=1.65x10 -13 ). After accounting for
                      treatment, 6q loss remained the most significant independent
                      predictor of survival in PF-EPN-A but is not in PF-EPN-B.
                      Distant relapses were more common in 1q gain irrespective of
                      6q loss. RNA-sequencing comparing 6q loss to 6q balanced
                      PF-EPN-A suggests that 6q loss forms a biologically distinct
                      group.We have identified an ultra high-risk PF-EPN-A
                      ependymoma subgroup, which can be reliably ascertained using
                      cytogenetic markers in routine clinical use. A change in
                      treatment paradigm is urgently needed for this particular
                      subset of PF-EPN-A where novel therapies should be
                      prioritized for upfront therapy.},
      keywords     = {1q gain (Other) / 6qloss (Other) / PFA (Other) / PFB
                      (Other) / ependymoma (Other) / posterior fossa (Other) /
                      subgrouping (Other)},
      cin          = {B062 / HD01 / B300},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B300-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33580238},
      doi          = {10.1093/neuonc/noab034},
      url          = {https://inrepo02.dkfz.de/record/167455},
}