Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile.
Neuro Oncol
; 26(9): 1723-1737, 2024 Sep 05.
Article
em En
| MEDLINE
| ID: mdl-38717379
ABSTRACT
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 (nâ =â 49), most tumors were classified as pediatric-type diffuse high-grade glioma (pedHGG), H3-/IDH-wild-type (nâ =â 31/49, 63.3%) with enriched subclasses pedHGG_RTK2 (nâ =â 19), pedHGG_A/B (nâ =â 6), and pedHGG_MYCN (nâ =â 5), but only one pedHGG_RTK1 case. Within the pedHGG, H3-/IDH-wild-type subgroup, recurrent alterations in EGFR (nâ =â 10) and BCOR (nâ =â 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).Palavras-chave
Texto completo:
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Encefálicas
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Neoplasias Neuroepiteliomatosas
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Glioma
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Neuro Oncol
Ano de publicação:
2024
Tipo de documento:
Article