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@ARTICLE{Nozzoli:303035,
      author       = {F. Nozzoli and R. Rahmanzade$^*$ and S. Schmid$^*$ and L.
                      Schweizer$^*$ and D. Schrimpf and D. Friedel and K. Göbel
                      and D. E. Reuss$^*$ and R. Banan$^*$ and P. Sievers$^*$ and
                      S. Pusch$^*$ and H. Bogumil$^*$ and F. Hinz$^*$ and A. K.
                      Suwala$^*$ and F. K. Aras$^*$ and L. Friedrich$^*$ and S.
                      Osella-Abate and A. A. Ricci and A. Macciotta and T. Simon
                      and G. Fleischhack and K. Keyvani and J. R. Hansford and
                      D.-A. Khuong-Quang and P. Schucht and T. Maragkou and T. A.
                      Juratli and M. Meinhardt and S. Zechel and C. Stadelmann and
                      R. Coras and O. W. Sakowitz and B. Goeppert and J.
                      Schittenhelm and N. Etminan and M. Ratliff and C.
                      Herold-Mende and S. Pfister$^*$ and W. Wick$^*$ and S. M.
                      Krieg and A. von Deimling$^*$ and F. Sahm$^*$ and L.
                      Bertero},
      title        = {{D}istinct molecular profile and outcome of
                      oligodendroglioma, {IDH}-mutant, 1p/19q-codeleted and
                      {TERT}p-wildtype: a grade 1 oligodendroglioma of young
                      patients?},
      journal      = {Neuro-Oncology},
      volume       = {nn},
      issn         = {1522-8517},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2025-01482},
      pages        = {nn},
      year         = {2025},
      note         = {#EA:B300#LA:B300# /epub},
      abstract     = {Oligodendrogliomas, characterized by isocitrate
                      dehydrogenase (IDH) mutations and 1p/19q codeletion, often
                      exhibit telomerase reverse transcriptase promoter (TERTp)
                      mutations which have been linked to telomere maintenance
                      (TM) and tumour proliferation. Although there are a few
                      reports on a TERTp-wildtype subset of these tumours in
                      adolescents and young adults, the frequency, molecular
                      characteristics and prognostic implications of
                      TERTp-wildtype status in oligodendrogliomas remains
                      elusive.We retrospectively analysed 166 IDH-mutant and
                      1p/19q-codeleted oligodendroglioma cases through
                      comprehensive histopathological review and molecular
                      analyses, including Sanger sequencing, DNA methylation
                      profiling and whole exome sequencing (WES).A TERTp-wildtype
                      status was observed in 20/166 cases $(12.0\%)$ and was
                      significantly associated with noticeably young age
                      (p<0.001), CNS WHO grade 2 (p=0.003), and the absence of
                      additional DNA copy number variations (CNVs) beyond the
                      pathognomonic 1p/19q codeletion (p<0.001). Epigenetic
                      profiling demonstrated TERTp-wildtype tumours shaped a
                      distinct subgroup at the utmost periphery of TERTp-mutant
                      oligodendrogliomas. Methylation analysis of the upstream and
                      proximal TERTp regions revealed that, in line with the
                      absence of genetic alterations, epigenetic regulation does
                      not favour TERT overexpression in TERTp-wildtype
                      oligodendrogliomas. WES showed no TM-related genes
                      alterations in TERTp-wildtype cases. Cox regression analysis
                      confirmed TERTp-wildtype status as an independent prognostic
                      factor for more favourable progression-free survival (PFS)
                      (p=0.009).In conclusion, 'oligodendroglioma, IDH-mutant,
                      1p/19q-codeleted and TERTp-wildtype' represents a distinct
                      molecular subgroup associated with younger age and a better
                      clinical course compared to CNS WHO grade 2
                      oligodendrogliomas.},
      keywords     = {TERT promoter (Other) / adolescents and young adults
                      (Other) / methylation (Other) / oligodendroglioma (Other) /
                      progression-free survival (Other)},
      cin          = {B300 / HD01 / BE01 / FM01 / B062 / B320},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)BE01-20160331 / I:(DE-He78)FM01-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B320-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40692489},
      doi          = {10.1093/neuonc/noaf141},
      url          = {https://inrepo02.dkfz.de/record/303035},
}