Fiche publication
Date publication
octobre 2024
Journal
Annals of clinical and translational neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr LHERMITTE Benoît
,
Dr REITA Damien
,
Dr BENDER Laura
,
Dr CEBULA Hélène
Tous les auteurs :
Benistant L, Reita D, Schenck M, Castelain V, Cebula H, Lhermitte B, Bender L
Lien Pubmed
Résumé
Diffuse midline gliomas present a particularly intricate and challenging clinical scenario. This rare case involves a patient with comutant H3F3A and FGFR diffuse midline glioma with a clinical presentation of fulminant leptomeningitis. A 22-year-old male presented with fatal and fulminant diffuse leptomeningitis. Next-generation sequencing of plasma and cerebrospinal circulating tumour DNA revealed diffuse midline gliomas with H3F3A and FGFR mutations. Methylome analysis of meningeal tissue collected during autopsy confirmed the diagnosis. Liquid biopsy plays a crucial role in the diagnosis of diffuse midline gliomas, mainly those with exclusively leptomeningeal presentations.
Référence
Ann Clin Transl Neurol. 2024 10 23;:
