Abstract
Patients with L-2-hydroxyglutaric aciduria are at risk for developing cerebral neoplasms, particularly gliomas, as one of the optical isomers of the known oncometabolite, 2-hydroxyglutarate is produced in L-2-hydroxyglutaric aciduria. To illustrate the concept of sustained oncogenic potential in permanent exposure to L-2-hydroxyglutarate in brain tissue, we present the medical history of a patient with L-2-hydroxyglutaric aciduria who underwent surgery to remove a right temporal anaplastic astrocytoma and developed an anatomically distinct, but histopathologically similar, tumor in the left frontal region 40 months later. This is the first reported case of successive distinct gliomas in a patient with L-2-hydroxyglutaric aciduria. While this implies a significant, cumulative lifetime risk for cerebral neoplasms in patients with this rare organic aciduria, it also allows further insight into a unique mechanism of tumorigenesis in the brain.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Alcohol Oxidoreductases / genetics
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Alcohol Oxidoreductases / metabolism
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Astrocytoma / etiology*
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Astrocytoma / genetics
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Astrocytoma / metabolism
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Astrocytoma / pathology
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Astrocytoma / surgery
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Biopsy
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Brain Diseases, Metabolic, Inborn / complications*
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Brain Diseases, Metabolic, Inborn / diagnosis
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Brain Diseases, Metabolic, Inborn / genetics
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Brain Diseases, Metabolic, Inborn / metabolism
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Brain Neoplasms / etiology*
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Brain Neoplasms / genetics
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Brain Neoplasms / metabolism
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Brain Neoplasms / pathology
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Brain Neoplasms / surgery
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ErbB Receptors / genetics
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Genetic Predisposition to Disease
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Glutarates / metabolism
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Humans
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In Situ Hybridization, Fluorescence
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Magnetic Resonance Imaging
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Male
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Mutation
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Neoplasm Grading
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Neoplasms, Second Primary / etiology*
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Neoplasms, Second Primary / genetics
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Neoplasms, Second Primary / metabolism
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Neoplasms, Second Primary / pathology
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Positron-Emission Tomography
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Risk Factors
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Time Factors
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Treatment Outcome
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Young Adult
Substances
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Glutarates
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alpha-hydroxyglutarate
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Alcohol Oxidoreductases
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L2HGDH protein, human
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EGFR protein, human
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ErbB Receptors
Supplementary concepts
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2-Hydroxyglutaricaciduria