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Article

Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing.

Acta neuropathologica communications - 20 Mar 2023

Liserre Roberto, Branzoli Francesca, Pagani Francesca, Gryzik Magdalena, Cominelli Manuela, Miele Evelina, Marjańska Małgorzata, Doglietto Francesco, Poliani Pietro Luigi

Abstract excerpt

Medulloblastoma (MB) is the most common malignant brain tumor occurring in childhood and rarely found in adults. Based on transcriptome profile, MB are currently classified into four major molecular groups reflecting a considerable biological heterogeneity: WNT-activated, SHH-activated, group 3 and group 4. Recently, DNA methylation profiling allowed the identification of additional subgroups within the four...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36941703
DOI: 10.1186/s40478-023-01531-y
PMCID: PMC10029199

Genes

MB
IDH1
GNAS
IDH2
SHH
GFAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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