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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Veröffentlicht in:Annals of clinical and translational neurology Jg. 11; H. 11; S. 3037 - 3041
Hauptverfasser: Benistant, Larysa, Reita, Damien, Schenck, Maleka, Castelain, Vincent, Cebula, Hélène, Lhermitte, Benoît, Bender, Laura
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States John Wiley & Sons, Inc 01.11.2024
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ISSN:2328-9503, 2328-9503
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Abstract 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.
AbstractList 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.
Abstract 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.
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.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.
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.
Author Benistant, Larysa
Castelain, Vincent
Reita, Damien
Bender, Laura
Schenck, Maleka
Cebula, Hélène
Lhermitte, Benoît
AuthorAffiliation 3 Medical Reanimation Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
2 Molecular Biology Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
4 Neurosurgery Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
6 Laboratory Bioimaging and Pathologies, Translational, Transversal and Therapeutic Oncology Team, Faculty of Pharmacy UMR CNRS 7021 Illkirch‐Graffenstaden 67401 France
1 Oncology Department Institut de Cancérologie Strasbourg Europe 17 Avenue Albert Calmette Strasbourg France
5 Pathology Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
AuthorAffiliation_xml – name: 3 Medical Reanimation Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
– name: 5 Pathology Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
– name: 6 Laboratory Bioimaging and Pathologies, Translational, Transversal and Therapeutic Oncology Team, Faculty of Pharmacy UMR CNRS 7021 Illkirch‐Graffenstaden 67401 France
– name: 1 Oncology Department Institut de Cancérologie Strasbourg Europe 17 Avenue Albert Calmette Strasbourg France
– name: 2 Molecular Biology Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
– name: 4 Neurosurgery Department University Hospital Strasbourg 1 Avenue Molière Strasbourg France
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  surname: Benistant
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  organization: Institut de Cancérologie Strasbourg Europe
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  surname: Reita
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  organization: University Hospital Strasbourg
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  givenname: Maleka
  surname: Schenck
  fullname: Schenck, Maleka
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  givenname: Vincent
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  fullname: Castelain, Vincent
  organization: University Hospital Strasbourg
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  surname: Cebula
  fullname: Cebula, Hélène
  organization: University Hospital Strasbourg
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  surname: Bender
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  email: l.bender@icans.eu
  organization: Institut de Cancérologie Strasbourg Europe
BackLink https://www.ncbi.nlm.nih.gov/pubmed/39440520$$D View this record in MEDLINE/PubMed
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Snippet Diffuse midline gliomas present a particularly intricate and challenging clinical scenario. This rare case involves a patient with comutant H3F3A and FGFR...
Diffuse midline gliomas present a particularly intricate and challenging clinical scenario. This rare case involves a patient with comutant H3F3A and FGFR...
Abstract Diffuse midline gliomas present a particularly intricate and challenging clinical scenario. This rare case involves a patient with comutant H3F3A and...
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StartPage 3037
SubjectTerms 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
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Title Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma
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Volume 11
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