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

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

Abstract 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, gro...

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Bibliographic Details
Main Authors: Roberto Liserre, Francesca Branzoli, Francesca Pagani, Magdalena Gryzik, Manuela Cominelli, Evelina Miele, Małgorzata Marjańska, Francesco Doglietto, Pietro Luigi Poliani
Format: Article
Language:English
Published: BMC 2023-03-01
Series:Acta Neuropathologica Communications
Subjects:
Magnetic resonance spectroscopy (MRS)
d-2-Hydroxyglutarate (2HG)
Isocitrate dehydrogenase 1 and 2 mutation
Medulloblastoma
GNAS mutation
Online Access:https://doi.org/10.1186/s40478-023-01531-y

Internet

https://doi.org/10.1186/s40478-023-01531-y

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