| Autor: |
Alice Métais, Arnault Tauziède-Espariat, Jeremy Garcia, Romain Appay, Emmanuelle Uro-Coste, David Meyronet, Claude-Alain Maurage, Fanny Vandenbos, Valérie Rigau, Dan Christian Chiforeanu, Johan Pallud, Suhan Senova, Raphaël Saffroy, Carole Colin, Myriam Edjlali, Pascale Varlet, Dominique Figarella-Branger, The Biopathology RENOCLIP-LOC network |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-16 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2051-5960 |
| DOI: |
10.1186/s40478-023-01506-z |
| Popis: |
Abstract Background Gliomas with FGFR3::TACC3 fusion mainly occur in adults, display pathological features of glioblastomas (GB) and are usually classified as glioblastoma, IDH-wildtype. However, cases demonstrating pathological features of low-grade glioma (LGG) lead to difficulties in classification and clinical management. We report a series of 8 GB and 14 LGG with FGFR3:TACC3 fusion in order to better characterize them. Methods Centralized pathological examination, search for TERT promoter mutation and DNA-methylation profiling were performed in all cases. Search for prognostic factors was done by the Kaplan–Meir method. Results TERT promoter mutation was recorded in all GB and 6/14 LGG. Among the 7 cases with a methylation score > 0.9 in the classifier (v12.5), 2 were classified as glioblastoma, 4 as ganglioglioma (GG) and 1 as dysembryoplastic neuroepithelial tumor (DNET). t-SNE analysis showed that the 22 cases clustered into three groups: one included 12 cases close to glioblastoma, IDH-wildtype methylation class (MC), 5 cases each clustered with GG or DNET MC but none with PLNTY MC. Unsupervised clustering analysis revealed four groups, two of them being clearly distinct: 5 cases shared age ( 40), pathological features of glioblastoma, and were TERT-mutated. Relevant factors associated with a better prognosis were age |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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