PT  - JOURNAL ARTICLE
AU  - Patay, Z.
AU  - Mills, J.C.
AU  - Löbel, U.
AU  - Lambert, A.
AU  - Sablauer, A.
AU  - Ellison, D.W.
TI  - Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data
AID  - 10.3174/ajnr.A2869
DP  - 2012 May 01
TA  - American Journal of Neuroradiology
PG  - 940--943
VI  - 33
IP  - 5
4099  - http://www.ajnr.org/content/33/5/940.short
4100  - http://www.ajnr.org/content/33/5/940.full
SO  - Am. J. Neuroradiol.2012 May 01; 33
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. 2-HG2-hydroxyglutarateIDHisocitrate dehydrogenaseL2-HGL-2-hydroxyglutarateL2-HGAL-2-hydroxyglutaric aciduriaL2HGDHL-2-hydroxyglutarate dehydrogenaseMDHmalate dehydrogenasePNETprimitive neuroectodermal tumorWHOWorld Health Organization