Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.
AJNR Am J Neuroradiol
; 33(5): 940-3, 2012 May.
Article
in En
| MEDLINE
| ID: mdl-22241392
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain Neoplasms
/
Brain Diseases, Metabolic, Inborn
Type of study:
Etiology_studies
/
Prevalence_studies
/
Prognostic_studies
/
Systematic_reviews
Limits:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
AJNR Am J Neuroradiol
Year:
2012
Document type:
Article
Affiliation country: