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Sci Transl Med. 2010 Oct 20;2(54):54ps50. doi: 10.1126/scitranslmed.3001669.

Metabolic syndromes and malignant transformation: where the twain shall meet.

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  • 1Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.


Recurrent somatic mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes that result in the accumulation of D-2-hydroxyglutarate (D-2-HG) have been identified in malignant gliomas and in acute myeloid leukemia (AML). However, the function of this metabolite in normal and malignant tissues remains uncertain. A report in the current issue of Science describes a germline IDH2 mutation in a subset of patients with a rare metabolic disorder--D-2-hydroxyglutaric aciduria-that is similar to mutations seen in cancer patients. These observations further elucidate the effects of IDH mutations on normal and malignant cells.

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