Gliomatosis cerebri in children:A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile
| Title: | Gliomatosis cerebri in children:A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile |
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| Authors: | Nussbaumer, Gunther; Benesch, Martin; Grabovska, Yura; Mackay, Alan; Castel, David; Grill, Jacques; Alonso, Marta M.; Antonelli, Manila; Bailey, Simon; Baugh, Joshua N.; Biassoni, Veronica; Blattner-Johnson, Mirjam; Broniscer, Alberto; Carai, Andrea; Colafati, Giovanna Stefania; Colditz, Niclas; Corbacioglu, Selim; Crampsie, Shauna; Entz-Werle, Natacha; Eyrich, Matthias; Friker, Lea L.; Frühwald, Michael C.; Garrè, Maria Luisa; Gerber, Nicolas U.; Giangaspero, Felice; Gil-Da-Costa, Maria J.; Graf, Norbert; Hargrave, Darren; Hauser, Peter; Herrlinger, Ulrich; Hoffmann, Marion; Hulleman, Esther; Izquierdo, Elisa; Jacobs, Sandra; Karremann, Michael; Kattamis, Antonis; Kebudi, Rejin; Kortmann, Rolf Dieter; Kwiecien, Robert; Massimino, Maura; Mastronuzzi, Angela; Miele, Evelina; Morana, Giovanni; Noack, Claudia M.; Pentikainen, Virve; Perwein, Thomas; Pfister, Stefan M.; Pietsch, Torsten; Roka, Kleoniki; Rossi, Sabrina; Rutkowski, Stefan; Schiavello, Elisabetta; Seidel, Clemens; Štěrba, Jaroslav; Sturm, Dominik; Sumerauer, David; Tacke, Anna; Temelso, Sara; Valentini, Chiara; van Vuurden, Dannis; Varlet, Pascale; Veldhuijzen van Zanten, Sophie E.M.; Vinci, Maria; von Bueren, André O.; Warmuth-Metz, Monika; Wesseling, Pieter; Wiese, Maria; Wolff, Johannes E.A.; Zamecnik, Josef; La Madrid, Andrés Morales; Bison, Brigitte; Gielen, Gerrit H.; Jones, David T.W.; Jones, Chris; Kramm, Christof M. |
| Source: | Nussbaumer, G, Benesch, M, Grabovska, Y, Mackay, A, Castel, D, Grill, J, Alonso, M M, Antonelli, M, Bailey, S, Baugh, J N, Biassoni, V, Blattner-Johnson, M, Broniscer, A, Carai, A, Colafati, G S, Colditz, N, Corbacioglu, S, Crampsie, S, Entz-Werle, N, Eyrich, M, Friker, L L, Frühwald, M C, Garrè, M L, Gerber, N U, Giangaspero, F, Gil-Da-Costa, M J, Graf, N, Hargrave, D, Hauser, P, Herrlinger, U, Hoffmann, M, Hulleman, E, Izquierdo, E, Jacobs, S, Karremann, M, Kattamis, A, Kebudi, R, Kortmann, R D, Kwiecien, R, Massimino, M, Mastronuzzi, A, Miele, E, Morana, G, Noack, C M, Pentikainen, .... |
| Publication Year: | 2024 |
| Subject Terms: | /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being |
| Description: | Background: The term gliomatosis cerebri (GC), a radiology-defined highly infiltrating diffuse glioma, has been abandoned since molecular GC-associated features could not be established. 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-year 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-wild-type (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-wild-type 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-wild-type subgroup TP53 alterations had a significant negative effect on OS. Conclusions: 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). |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | English |
| ISSN: | 1522-8517; 1523-5866 |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/38717379; info:eu-repo/semantics/altIdentifier/wos/001458375800001; info:eu-repo/semantics/altIdentifier/pissn/1522-8517; info:eu-repo/semantics/altIdentifier/eissn/1523-5866 |
| DOI: | 10.1093/neuonc/noae080 |
| Availability: | https://pure.eur.nl/en/publications/fe077cea-c33a-41d8-a14c-8445d7f9e087; https://doi.org/10.1093/neuonc/noae080; https://pure.eur.nl/ws/files/167529028/Gliomatosis_cerebri_in_children.pdf; https://www.scopus.com/pages/publications/85199676724 |
| Rights: | info:eu-repo/semantics/openAccess ; http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.8BE8D88D |
| Database: | BASE |