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A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma DIPG
Published on: March 7, 2017
Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma
Larysa Benistant1, Damien Reita2, Maleka Schenck3
1Oncology Department, Institut de Cancérologie Strasbourg Europe, 17 Avenue Albert Calmette, Strasbourg, France.
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.
Insights
This study reports a rare case of diffuse midline glioma with H3F3A and FGFR mutations presenting as leptomeningitis. Liquid biopsy proved crucial for diagnosing this challenging condition, especially with leptomeningeal spread.
Area of Science:
- Neuro-oncology
- Genetics
- Pathology
Background:
- Diffuse midline gliomas are rare and challenging brain tumors.
- Leptomeningeal involvement complicates diagnosis and treatment.
- Co-occurring H3F3A and FGFR mutations are uncommon in these gliomas.
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