@article {Patay940, author = {Patay, Z. and Mills, J.C. and L{\"o}bel, U. and Lambert, A. and Sablauer, A. and Ellison, D.W.}, title = {Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data}, volume = {33}, number = {5}, pages = {940--943}, year = {2012}, doi = {10.3174/ajnr.A2869}, publisher = {American Journal of Neuroradiology}, 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 {\textquotedblleft}model{\textquotedblright} that provides further evidence to support the recently proposed pathogenetic role of 2-HG in the development of cerebral neoplasms. 2-HG2-hydroxyglutarateIDHisocitrate dehydrogenaseL2-HGL-2-hydroxyglutarateL2-HGAL-2-hydroxyglutaric aciduriaL2HGDHL-2-hydroxyglutarate dehydrogenaseMDHmalate dehydrogenasePNETprimitive neuroectodermal tumorWHOWorld Health Organization}, issn = {0195-6108}, URL = {http://www.ajnr.org/content/33/5/940}, eprint = {http://www.ajnr.org/content/33/5/940.full.pdf}, journal = {American Journal of Neuroradiology} }