期刊
AMERICAN JOURNAL OF NEURORADIOLOGY
卷 33, 期 5, 页码 940-943出版社
AMER SOC NEURORADIOLOGY
DOI: 10.3174/ajnr.A2869
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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.
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