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Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data

Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data SUMMARY: Increasing evidence suggests that patients with L2-HGA have a predisposition to cerebral neoplasms. This may be related to the pathologic accumulation of L2-HG because high amounts of 2-HG have been found in brain neoplasms that have IDH1 mutations. Our experience, on the basis of 11 previously unreported cases of L2-HGA, 3 of which developed cerebral neoplasms during the course of the disease, also supports an association between L2-HGA and cerebral neoplasms. We conducted a meta-analysis of published data, and we identified 295 patients (including our 11 patients) with L2-HGA. In 14 patients, the metabolic disorder was associated with cerebral neoplasms, suggesting an approximately 5% prevalence rate of CNS neoplasms in patients with L2-HGA; nonetheless, it may still be an underestimate. L2-HGA is an important disease “model” that provides further evidence to support the recently proposed pathogenetic role of 2-HG in the development of cerebral neoplasms. ABBREVIATIONS: 2-HG 2-hydroxyglutarate IDH isocitrate dehydrogenase L2-HG L-2-hydroxyglutarate L2-HGA L-2-hydroxyglutaric aciduria L2HGDH L-2-hydroxyglutarate dehydrogenase MDH malate dehydrogenase PNET primitive neuroectodermal tumor WHO World Health Organization http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data

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References (53)

Publisher
American Journal of Neuroradiology
Copyright
Copyright © 2012 by the American Society of Neuroradiology.
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A2869
pmid
22241392
Publisher site
See Article on Publisher Site

Abstract

SUMMARY: Increasing evidence suggests that patients with L2-HGA have a predisposition to cerebral neoplasms. This may be related to the pathologic accumulation of L2-HG because high amounts of 2-HG have been found in brain neoplasms that have IDH1 mutations. Our experience, on the basis of 11 previously unreported cases of L2-HGA, 3 of which developed cerebral neoplasms during the course of the disease, also supports an association between L2-HGA and cerebral neoplasms. We conducted a meta-analysis of published data, and we identified 295 patients (including our 11 patients) with L2-HGA. In 14 patients, the metabolic disorder was associated with cerebral neoplasms, suggesting an approximately 5% prevalence rate of CNS neoplasms in patients with L2-HGA; nonetheless, it may still be an underestimate. L2-HGA is an important disease “model” that provides further evidence to support the recently proposed pathogenetic role of 2-HG in the development of cerebral neoplasms. ABBREVIATIONS: 2-HG 2-hydroxyglutarate IDH isocitrate dehydrogenase L2-HG L-2-hydroxyglutarate L2-HGA L-2-hydroxyglutaric aciduria L2HGDH L-2-hydroxyglutarate dehydrogenase MDH malate dehydrogenase PNET primitive neuroectodermal tumor WHO World Health Organization

Journal

American Journal of Neuroradiology – American Journal of Neuroradiology

Published: May 1, 2012

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