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@ARTICLE{Muench:283138,
      author       = {A. Muench and D. Teichmann and D. Spille and P. Kuzman and
                      E. Perez and S.-A. May and W. C. Mueller and T. Kombos and
                      S. Nazari-Dehkordi and J. Onken and P. Vajkoczy and G.
                      Ntoulias and C. Bettencourt and A. von Deimling$^*$ and W.
                      Paulus and F. L. Heppner$^*$ and A. Koch$^*$ and D.
                      Capper$^*$ and D. Kaul and C. Thomas and L. Schweizer$^*$},
      title        = {{A} {N}ovel {T}ype of {IDH} {W}ild-type {G}lioma
                      {C}haracterized by {G}liomatosis {C}erebri-like {G}rowth
                      {P}attern, {TERT} {P}romoter {M}utation, and {D}istinct
                      {E}pigenetic {P}rofile.},
      journal      = {The American journal of surgical pathology},
      volume       = {47},
      number       = {12},
      issn         = {0147-5185},
      address      = {[Erscheinungsort nicht ermittelbar]},
      publisher    = {Ovid},
      reportid     = {DKFZ-2023-01925},
      pages        = {1364-1375},
      year         = {2023},
      note         = {2023 Dec 1;47(12):1364-1375},
      abstract     = {Diffuse gliomas in adults encompass a heterogenous group of
                      central nervous system neoplasms. In recent years, extensive
                      (epi-)genomic profiling has identified several glioma
                      subgroups characterized by distinct molecular
                      characteristics, most importantly IDH1/2 and histone H3
                      mutations. A group of 16 diffuse gliomas classified as
                      'adult-type diffuse high-grade glioma, IDH-wildtype, subtype
                      F (HGG-F)' was identified by the DKFZ v12.5 Brain Tumor
                      Classifier. Histopathologic characterization, exome
                      sequencing, and review of clinical data was performed in all
                      cases. Based on unsupervised t-distributed stochastic
                      neighbor embedding and clustering analysis of genome-wide
                      DNA methylation data, HGG-F shows distinct epigenetic
                      profiles separate from established central nervous system
                      tumors. Exome sequencing demonstrated frequent TERT promoter
                      (12/15 cases), PIK3R1 (11/16), and TP53 mutations (5/16).
                      Radiologic characteristics were reminiscent of gliomatosis
                      cerebri in 9/14 cases $(64\%).$ Histopathologically, most
                      cases were classified as diffuse gliomas (7/16, $44\%)$ or
                      were suspicious for the infiltration zone of a diffuse
                      glioma (5/16, $31\%).$ None of the cases demonstrated
                      microvascular proliferation or necrosis. Outcome of 14
                      patients with follow-up data was better compared to
                      IDH-wildtype glioblastomas with a median progression-free
                      survival of 58 months and overall survival of 74 months
                      (both P<0.0001). Our series represents a novel type of
                      adult-type diffuse glioma with distinct molecular and
                      clinical features. Importantly, we provide evidence that
                      TERT promoter mutations in diffuse gliomas without further
                      morphologic or molecular signs of high-grade glioma should
                      be interpreted in the context of the clinicoradiologic
                      presentation as well as epigenetic profile and may not be
                      suitable as a standalone marker for glioblastoma,
                      IDH-wildtype.},
      cin          = {BE01 / FM01 / B300},
      ddc          = {610},
      cid          = {I:(DE-He78)BE01-20160331 / I:(DE-He78)FM01-20160331 /
                      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:37737691},
      doi          = {10.1097/PAS.0000000000002118},
      url          = {https://inrepo02.dkfz.de/record/283138},
}