title: Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.
abstract: 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.
authors.affiliation: Department of Radiological Sciences, St. Jude Children’s Research Hospital, 262 Danny Thomas Pl, Mail Stop 210, Memphis, TN 38105, USA. Zoltan.Patay@STJUDE.ORG
authors.forename: Z
authors.initials: Z
authors.lastname: Patay
authors.forename: J C
authors.initials: JC
authors.lastname: Mills
authors.forename: U
authors.initials: U
authors.lastname: Löbel
authors.forename: A
authors.initials: A
authors.lastname: Lambert
authors.forename: A
authors.initials: A
authors.lastname: Sablauer
authors.forename: D W
authors.initials: DW
authors.lastname: Ellison
mesh_terms: D000293:Adolescent; D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000453:epidemiology* / Q000473:pathology*; D001932:Brain Neoplasms / Q000453:epidemiology* / Q000473:pathology*; D015984:Causality; D002675:Child, Preschool; D015897:Comorbidity; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data; D008297:Male; D015995:Prevalence; D018570:Risk Assessment; D055815:Young Adult