Fulminant leptomeningeal disease diagnosed as comutant <i>H3F3A</i> and <i>FGFR</i> 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 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.
Authors
- Benoît Lhermitte (ORCID: https://orcid.org/0000-0002-4884-3758)
- H. Cébula (ORCID: https://orcid.org/0000-0002-5868-3591)
- Vincent Castelain (ORCID: https://orcid.org/0000-0002-9354-6525)
- Maleka Schenck (ORCID: https://orcid.org/0000-0002-1043-6452)
- Damien Reita (ORCID: https://orcid.org/0000-0001-6281-9909)
- Laura Bender (ORCID: https://orcid.org/0000-0003-3486-8505)
- Larysa Benistant
Institutions
- Centre National de la Recherche Scientifique (FR)
- Institut de Cancérologie Strasbourg (FR)
- Translational Research in Oncology (FR)
- Université de Strasbourg (FR)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-10-23
- DOI
- https://doi.org/10.1002/acn3.52180
- Primary Topic
- Glioma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00