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@ARTICLE{TauzideEspariat:301575,
      author       = {A. Tauziède-Espariat and V. Dangouloff-Ros and P.
                      Sievers$^*$ and M. Duchesne and A. Siegfried and Y. Nicaise
                      and N. Boddaert and L. Hasty and A. Métais and C. Ngo and
                      F. le Loarer and C. Bouvier and A. Fontaine and A. Rousseau
                      and F. Marguet and K. Beccaria and T. Blauwblomme and E.
                      Uro-Coste and P. Varlet},
      collaboration = {RENOCLIP-LOC},
      title        = {{G}lioneuronal tumors {PATZ}1-fused: clinico-molecular and
                      {DNA} methylation signatures for a variety of morphological
                      and radiological profiles.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {13},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2025-01083},
      pages        = {114},
      year         = {2025},
      abstract     = {The neuroepithelial tumor, PATZ1-fused (NET-PATZ1), has
                      been recently isolated as a distinct methylation class by
                      DNA-methylation profiling and is characterized by recurrent
                      PATZ1 fusions, in association with the EWSR1 or MN1 genes
                      and a chromosome 22 chromothripsis. The clinical phenotype
                      is mainly pediatric and features circumscribed
                      supratentorial tumors. However, the histopathology is vastly
                      heterogeneous (glial, glioneuronal, sarcomatous,
                      multiphenotypic) and a cell of origin has not yet been
                      identified, explaining the previsionary imprecise
                      terminology of 'NET'. Moreover, extra-central nervous system
                      (CNS) sarcomas also harboring the EWSR1::PATZ1 fusion have
                      been reported and added to the current World Health
                      Organization (WHO) Classification of Soft Tissue and Bone
                      Tumors, in the chapter on undifferentiated small round cell
                      sarcomas. However, their relationship to their CNS
                      counterparts has not yet been studied. Herein, we analyzed a
                      cohort of twelve CNS tumors with PATZ1 fusions in terms of
                      clinical presentation, radiology, histopathology,
                      immunohistochemistry, ultrastructure and DNA-methylation
                      profiling and compared them to five extra-CNS
                      sarcomas-PATZ1. Based on the reported GATA2 overexpression
                      in NET-PATZ1, we also studied the potential interest of
                      GATA2 immunoexpression as a diagnostic tool. We confirmed
                      their distinct molecular characteristics and clinical
                      phenotype but evidenced a morphological intratumoral
                      heterogeneity with three recurrent morphological patterns
                      (oligodendroglial-like, pleomorphic xanthoastrocytoma-like
                      and spindle cells). Despite the unusual spindle and
                      proliferative component in a CD34 + glioneuronal tumor
                      (using electronic microscopy), these tumors present a
                      favorable prognosis. Their histopathological features were
                      all clearly distinct from their soft tissue counterparts.
                      GATA2 immunostaining is highly specific for CNS tumors
                      PATZ1-fused, but its sensitivity is perfectible and further
                      studies are needed to confirm its use as a diagnostic tool.
                      To conclude, our work highlights that CNS tumors,
                      PATZ1-fused seem to represent a novel pediatric glioneuronal
                      tumor type exhibiting a polymorphous morphology and provides
                      new support for its addition as a provisional emerging
                      pediatric circumscribed glioneuronal tumor type, low grade.},
      keywords     = {Humans / DNA Methylation: genetics / Male / Female / Child
                      / Adolescent / Child, Preschool / Adult / Young Adult /
                      Repressor Proteins: genetics / Repressor Proteins:
                      metabolism / Neoplasms, Neuroepithelial: genetics /
                      Neoplasms, Neuroepithelial: pathology / Neoplasms,
                      Neuroepithelial: diagnostic imaging / Co-Repressor Proteins
                      / Middle Aged / Central Nervous System Neoplasms: genetics /
                      Central Nervous System Neoplasms: pathology / Central
                      Nervous System Neoplasms: diagnostic imaging / Oncogene
                      Proteins, Fusion: genetics / RNA-Binding Protein EWS:
                      genetics / Infant / Kruppel-Like Transcription Factors /
                      DNA-methylation (Other) / EWSR1::PATZ1 (Other) /
                      Glioneuronal tumor (Other) / MN1::PATZ1 (Other) / PATZ1
                      protein, human (NLM Chemicals) / Repressor Proteins (NLM
                      Chemicals) / Co-Repressor Proteins (NLM Chemicals) /
                      Oncogene Proteins, Fusion (NLM Chemicals) / RNA-Binding
                      Protein EWS (NLM Chemicals) / Kruppel-Like Transcription
                      Factors (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:40413488},
      doi          = {10.1186/s40478-025-02037-5},
      url          = {https://inrepo02.dkfz.de/record/301575},
}