Informace o publikaci
Quantitative detection of an IDH2 mutation for minimal residual disease monitoring in acute myeloid leukemia patients and its comparison with mutations in the NPM1 gene
| Autoři | |
|---|---|
| Rok publikování | 2013 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Leukemia & Lymphoma |
| Fakulta / Pracoviště MU | |
| Citace | |
| Doi | http://dx.doi.org/10.3109/10428194.2012.727414 |
| Obor | Onkologie a hematologie |
| Klíčová slova | PROGNOSIS; FREQUENT |
| Přiložené soubory | |
| Popis | Acquired mutations in the IDH1 and IDH2 genes have been detected in various hematological disorders, including acute myeloid leukemia (AML), where the incidence has been reported to be 15%. The IDH1 and IDH2 genes encode enzymes that catalyze oxidative decarboxylation of isocitrate to alpha-ketoglutarate (alpha-KG). Somatic mutations cause their dysfunction and an accumulation of aberrant 2-hydroxygluterate (2-HG) product in cells. The decreased supply of alpha-KG or increased accumulation of 2-HG (i.e. metabolic biomarker of mutant IDH1/2 enzyme activity) is considered to be a possible basis for the oncogenic properties of IDH mutants. |