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Flank Pain as a First Symptom of a Diffuse Midline Glioma
Burc Bassa1, Achim Battmann2, Eva Maria Craemer1
1Department of Neurology, Krankenhaus Nordwest, Frankfurt, Germany.
Case Reports in Neurology
|February 6, 2023
Abstract:
Diffuse midline gliomas are a new entity in the WHO Classification of Tumors of the Central Nervous System, corresponding to grade 4 gliomas. The diagnostic pathognomonic feature is the presence of a H3K27M mutation. Although mainly seen in children, cases in adults have also been reported. The symptoms are highly variable and usually dependent on the location and extent of spinal cord compression.
Insights
Diffuse midline gliomas, a new WHO grade 4 entity, are diagnosed by the H3K27M mutation. Symptoms vary based on location and spinal cord compression, affecting both children and adults.
Area of Science:
- Neuro-oncology
- Central Nervous System (CNS) tumor classification
- Molecular neuropathology
Background:
- Diffuse midline gliomas represent a newly defined entity within the WHO Classification of Tumors of the Central Nervous System.
- These tumors are classified as grade 4 gliomas, indicating a high degree of malignancy.
- The defining characteristic is the presence of a specific molecular marker, the H3K27M mutation.
Observation:
- While predominantly diagnosed in pediatric populations, adult cases of diffuse midline gliomas have also been documented.
- Clinical presentation is highly variable and often correlates with the tumor's anatomical location.
- Symptoms are frequently associated with the degree and extent of spinal cord compression.
Findings:
- The H3K27M mutation serves as a pathognomonic diagnostic feature for diffuse midline gliomas.
- The incidence of these tumors is higher in children, but they are not exclusive to this age group.
- The clinical manifestations are directly influenced by the tumor's impact on neurological structures, particularly the spinal cord.
Implications:
- Accurate classification and molecular diagnosis are crucial for appropriate patient management and therapeutic strategies.
- Understanding the variability in symptoms aids in early detection and timely intervention.
- Recognition of adult cases broadens the scope of clinical suspicion and diagnostic considerations for CNS tumors.
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