RT Journal Article
SR Electronic
T1 Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
DO 10.3174/ajnr.A2869
A1 Z. Patay
A1 J.C. Mills
A1 U. Löbel
A1 A. Lambert
A1 A. Sablauer
A1 D.W. Ellison
YR 2012
UL http://www.ajnr.org/content/early/2012/01/12/ajnr.A2869.abstract
AB 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-HG2-hydroxyglutarateIDHisocitrate dehydrogenaseL2-HGL-2-hydroxyglutarateL2-HGAL-2-hydroxyglutaric aciduriaL2HGDHL-2-hydroxyglutarate dehydrogenaseMDHmalate dehydrogenasePNETprimitive neuroectodermal tumorWHOWorld Health Organization