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@ARTICLE{Aboubakr:303121,
      author       = {O. Aboubakr and A. K. Wefers and V. Dangouloff-Ros and A.
                      Métais and P. Sievers$^*$ and L. Hasty and R. Saffroy and
                      G. Pierron and D. Guillemot and T. Samoyeau and N. Boddaert
                      and J. Grill and K. Beccaria and T. Blauwblomme and P.
                      Varlet and A. Tauziède-Espariat},
      title        = {{T}he malignant transformation of an atypical angiocentric
                      glioma, {MYB}-altered.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {13},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2025-01540},
      pages        = {161},
      year         = {2025},
      abstract     = {According to the current World Health Organization
                      classification of central nervous system tumors, the
                      angiocentric glioma (AG) assigned a grade 1, characterized
                      by recurrent MYB fusions. However, it also mentions that
                      increased proliferative activity and other anaplastic
                      features have been reported, but the clinical significance
                      of such findings is unclear as an increased proliferative
                      activity alone does not necessarily alter the benign
                      behavior of AGs. Most cases with 'anaplasia' were mainly
                      described before the molecular era. Herein, we report the
                      case of a 3-year-old female with epilepsy symptomatic of a
                      left temporo-parietal tumor. Histopathologically, the
                      initial tumor displayed atypical AG morphology and a
                      proliferation index of $1\%,$ without mitoses, or necrosis.
                      RNA sequencing identified a MYB::QKI fusion. After several
                      tumor recurrences, the last tumor sample showed strong
                      evidence of a histopathological transformation into a
                      high-grade tumor with proliferation and mitotic indexes,
                      necrosis and microvascular proliferation. The recurrent
                      tumor still harbored the same MYB::QKI fusion but acquired
                      an hTERT mutation. DNA-methylation analysis classified the
                      initial tumor as an LGG, MYB/MYBL1-altered (AG,
                      MYB/MYBL1-altered with a calibrated score of 0.58) while the
                      progression clustered with glioblastoma, IDH-wildtype, RTK1
                      (with a calibrated score of 0.33). The copy number variation
                      both at presentation and at last recurrence (CNV) exhibited
                      a chromosome 6 chromothripsis. The patient died from tumor
                      progression after an overall survival of 89 months. This
                      novel observation raises the question of whether this case
                      represents an aggressive form of MYB/MYBL1-altered LGGs
                      driven by an oncogenic MYB fusion, or if they are actually
                      high-grade gliomas that coincidentally exhibit alterations
                      near the MYB locus. Further reports are needed to confirm
                      the existence of malignant forms of LGG, MYB/MYBL1-altered,
                      potentially correlated with a higher grade.},
      keywords     = {Humans / Female / Glioma: genetics / Glioma: pathology /
                      Glioma: diagnostic imaging / Brain Neoplasms: genetics /
                      Brain Neoplasms: pathology / Brain Neoplasms: diagnostic
                      imaging / Child, Preschool / Proto-Oncogene Proteins c-myb:
                      genetics / Cell Transformation, Neoplastic: genetics / Cell
                      Transformation, Neoplastic: pathology / Trans-Activators:
                      genetics / Neoplasm Recurrence, Local: pathology / Neoplasm
                      Recurrence, Local: genetics / Telomerase: genetics /
                      Proto-Oncogene Proteins / Aggressive (Other) / Angiocentric
                      glioma (Other) / DNA-methylation profiling (Other) / MYB
                      (Other) / Proto-Oncogene Proteins c-myb (NLM Chemicals) /
                      MYB protein, human (NLM Chemicals) / Trans-Activators (NLM
                      Chemicals) / MYBL1 protein, human (NLM Chemicals) /
                      Telomerase (NLM Chemicals) / Proto-Oncogene Proteins (NLM
                      Chemicals)},
      cin          = {B300 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40702569},
      doi          = {10.1186/s40478-025-02070-4},
      url          = {https://inrepo02.dkfz.de/record/303121},
}