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Abstract

BACKGROUND: Gliomatosis cerebri (GC), a radiologically defined diffusely infiltrating glioma, is no longer considered a distinct entity since the 2016 WHO classification for tumors of the CNS. Due to its rarity and dismal prognosis treatment recommendations in children remain ambiguous. Using central neuroradiological review, we performed a multi-institutional, retrospective study of GC providing comprehensive radiological, clinical, and (epi)genetic characterization. RESULTS: We included 104 patients between 1-19 years. Within a median follow-up of 15.5 months (range, 2.3-138.8), 93 patients (89.4 %) had died, 4 (3.8 %) were lost to follow-up and 7 (6.8 %) were alive with stable/progressive disease. Median progression-free- (PFS) and overall survival (OS) were 8.6 months (interquartile range, 4.3-14.0) and 15.5 months (10.9-27.7), respectively. Former WHO grading correlated significantly with median OS: WHO °II: 47.8 months (25.2-55.7); WHO °III: 15.9 months (11.4-26.3); WHO °IV: 10.4 months (8.8-14.4) (p<0.001). In high-grade gliomas (HGG), radiochemotherapy showed best PFS (p=0.002). Compared to hemispheric pediatric non-GC HGG, GC phenotype was associated with decreased OS (p=0.001). Methylation-based classification and exome sequencing were possible for 49 and 45 patients, respectively. According to the 2021 WHO classification, most cases were considered as IDH-/H3-wildtype gliomas (n=37/49, 75.5 %), mostly with a pedRTK2 subtype (n=15, 30.6%), followed by pedMYCN (n=5, 10.2 %). Within the IDH-/H3-wildtype gliomas, EGFR-altered tumors (n=10) seemed overrepresented. Survival analyses revealed a better OS for IDH1-mutant tumors (n=6; 54.6 vs. 15.2 months in IDH-wildtype; p=0.015) and a worse OS for TP53-mutant tumors (n=6; p=0.001). Despite the potential overrepresentation of EGFR-altered tumors, no other specific molecular markers for GC could be identified so far. Further analyses are ongoing. CONCLUSIONS: GC in children is confirmed as a poor prognostic phenotype include various epigenetic pediatric glioma subtypes, without a proven (epi)genetic mark of its own. The relevance of overrepresented EGFR alterations has to be determined yet.

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© The Author(s) 2022. Published by Oxford University Press on behalf of the Society for Neuro-Oncology.
This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected]
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High Grade Glioma
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