Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Nussbaumer, G; Benesch, M; Grabovska, Y; Mackay, A; Castel, D; Grill, J; Alonso, MM; Antonelli, M; Bailey, S; Baugh, JN; Biassoni, V; Blattner, Johnson, M; Broniscer, A; Carai, A; Colafati, GS; Colditz, N; Corbacioglu, S; Crampsie, S; Entz-Werle, N; Eyrich, M; Friker, LL; Frühwald, MC; Garrè, ML; Gerber, NU; Giangaspero, F; Gil-da-Costa, MJ; Graf, N; Hargrave, D; Hauser, P; Herrlinger, U; Hoffmann, M; Hulleman, E; Izquierdo, E; Jacobs, S; Karremann, M; Kattamis, A; Kebudi, R; Kortmann, RD; Kwiecien, R; Massimino, M; Mastronuzzi, A; Miele, E; Morana, G; Noack, CM; Pentikainen, V; Perwein, T; Pfister, SM; Pietsch, T; Roka, K; Rossi, S; Rutkowski, S; Schiavello, E; Seidel, C; Štěrba, J; Sturm, D; Sumerauer, D; Tacke, A; Temelso, S; Valentini, C; van, Vuurden, D; Varlet, P; Veldhuijzen, van, Zanten, SEM; Vinci, M; von, Bueren, AO; Warmuth-Metz, M; Wesseling, P; Wiese, M; Wolff, JEA; Zamecnik, J; Morales, La, Madrid, A; Bison, B; Gielen, GH; Jones, DTW; Jones, C; Kramm, CM.
Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile.
Neuro Oncol. 2024;
Doi: 10.1093/neuonc/noae080
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- Führende Autor*innen der Med Uni Graz
- Benesch Martin
- Nussbaumer Gunther
- Co-Autor*innen der Med Uni Graz
- Perwein Thomas
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- Abstract:
- BACKGROUND: The term Gliomatosis cerebri (GC), a radiology-defined highly infiltrating diffuse glioma, has been abandoned since molecular GC-associated features have not been established yet. METHODS: We conducted a multinational retrospective study of 104 children and adolescents with GC providing comprehensive clinical and (epi-)genetic characterization. RESULTS: Median overall survival (OS) was 15.5 months (interquartile range, 10.9-27.7) with a 2-years survival rate of 28%. Histopathological grading correlated significantly with median OS: CNS WHO grade II: 47.8 months (25.2-55.7); grade III: 15.9 months (11.4-26.3); grade IV: 10.4 months (8.8-14.4). By DNA methylation profiling (n=49), most tumors were classified as pediatric-type diffuse high-grade glioma (pedHGG), H3-/IDH-wildtype (n=31/49, 63.3%) with enriched subclasses pedHGG_RTK2 (n=19), pedHGG_A/B (n=6), and pedHGG_MYCN (n=5), but only one pedHGG_RTK1 case. Within the pedHGG, H3-/IDH-wildtype subgroup, recurrent alterations in EGFR (n=10) and BCOR (n=9) were identified. Additionally, we observed structural aberrations in chromosome 6 in 16/49 tumors (32.7%) across tumor types. In the pedHGG, H3-/IDH-wildtype subgroup TP53 alterations had a significant negative effect on OS. CONCLUSION: Contrary to previous studies, our representative pediatric GC study provides evidence that GC has a strong predilection to arise on the background of specific molecular features (especially pedHGG_RTK2, pedHGG_A/B, EGFR and BCOR mutations, chromosome 6 rearrangements).
- Find related publications in this database (Keywords)
- chromosome 6
- gliomatosis cerebri
- H3-wild-type and IDH-wild-type
- pedHGG_RTK2
- pediatric-type glioma
- pediatric-type high-grade glioma