ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2023
Genomic and epigenomic re-categorization of congenital glioblastoma and desmoplastic infantile ganglioglioma.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Morphological and Molecular Characterization of Infant-Type Hemispheric Glioma.Neurosciences (Riyadh, Saudi Arabia) · 2026Article
- Desmoplastic infantile ganglioglioma/astrocytoma: Expanding the molecular and morphological spectrum with a novel BRAF fusion.Neuro-oncology advancesArticle
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5 authors.
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Abstract
introductionThe recently updated World Health Organization classification of central nervous system (CNS) tumors, 5th edition, (CNS5) reclassifies pediatric tumors according to their distinct molecular drivers, recognizing a new entity-infant-type hemispheric glioma (IHG). Defined by its unique epigenetic signature, and/or genomic fusions in ALK, ROS1, NTRK, or MET gene, IHG subsumes many cases previously classified as congenital glioblastoma (cGBM). Histologic features of IHG are still poorly defined with known overlap with a clinic radiologically similar entity-desmoplastic infantile ganglioglioma/astrocytoma (DIG).
methodsWe revisited our cohort of cGBMs and DIGs, now reclassifying them according to CNS5 and compared the clinical, radiologic, molecular and histologic features between the two.
results3/6 cases of cGBM that underwent targeted NGS fusion mutation panel were positive for ALK fusions (involving MAP4, MZT2Bex2, and EML4 genes as fusion partners), and 1/6 showed GOPC:ROS1 fusion. Interestingly, GOPC:ROS1 fusion was also shared by 1/5 cases of histologically defined DIG. DNA methylation profiling using the Heidelberg classifier (v12.3) recategorized 2/5 DIG cases as IHG (including the case with ROS1 alteration).
conclusionIn conclusion, histology alone is insufficient to distinguish IHG from DIG, necessitating epigenomic and genomic testing for the diagnosis of early-life gliomas.
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