Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma

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 l...

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Vydáno v:Annals of clinical and translational neurology Ročník 11; číslo 11; s. 3037 - 3041
Hlavní autoři: Benistant, Larysa, Reita, Damien, Schenck, Maleka, Castelain, Vincent, Cebula, Hélène, Lhermitte, Benoît, Bender, Laura
Médium: Journal Article
Jazyk:angličtina
Vydáno: United States John Wiley & Sons, Inc 01.11.2024
John Wiley and Sons Inc
Wiley
Témata:
Autopsies
Biopsy
Brain cancer
Case Study
Diagnostic tests
DNA methylation
Genes
Glioma
Hydrocephalus
Kinases
Medical prognosis
Meningitis
Mutation
Patients
Pediatrics
Plasma
Spinal cord
Steroids
Tumors
Young adults
ISSN:2328-9503, 2328-9503
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Shrnutí: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.
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ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.52180