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Muench, Amos; Teichmann, Daniel; Spille, Dorothee; Kuzman, Peter; Perez, Eilis; May, Sven-Axel; Mueller, Wolf C.; Kombos, Theodoros; Nazari-Dehkordi, Shokufe; Onken, Julia; Vajkoczy, Peter; Ntoulias, Georgios; Bettencourt, Conceição; von Deimling, Andreas; Paulus, Werner; Heppner, Frank L.; Koch, Arend; Capper, David; Kaul, David; Thomas, Christian; Schweizer, Leonille

A Novel Type of IDH-wildtype Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile

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  • Medientyp: E-Artikel
  • Titel: A Novel Type of IDH-wildtype Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile
  • Beteiligte: Muench, Amos; Teichmann, Daniel; Spille, Dorothee; Kuzman, Peter; Perez, Eilis; May, Sven-Axel; Mueller, Wolf C.; Kombos, Theodoros; Nazari-Dehkordi, Shokufe; Onken, Julia; Vajkoczy, Peter; Ntoulias, Georgios; Bettencourt, Conceição; von Deimling, Andreas; Paulus, Werner; Heppner, Frank L.; Koch, Arend; Capper, David; Kaul, David; Thomas, Christian; Schweizer, Leonille
  • Erschienen: Ovid Technologies (Wolters Kluwer Health), 2023
  • Erschienen in: American Journal of Surgical Pathology
  • Sprache: Englisch
  • DOI: 10.1097/pas.0000000000002118
  • ISSN: 0147-5185
  • Schlagwörter: Pathology and Forensic Medicine ; Surgery ; Anatomy
  • Entstehung:
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  • Beschreibung: <jats:p>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 <jats:italic toggle="yes">Brain Tumor Classifier</jats:italic>. Histopathologic characterization, exome sequencing, and review of clinical data was performed in all cases. Based on unsupervised <jats:italic toggle="yes">t</jats:italic>-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 <jats:italic toggle="yes">TERT</jats:italic> promoter (12/15 cases), <jats:italic toggle="yes">PIK3R1</jats:italic> (11/16), and <jats:italic toggle="yes">TP53</jats:italic> 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 <jats:italic toggle="yes">P</jats:italic>&lt;0.0001). Our series represents a novel type of adult-type diffuse glioma with distinct molecular and clinical features. Importantly, we provide evidence that <jats:italic toggle="yes">TERT</jats:italic> 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.</jats:p>