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
| Authors | |
|---|---|
| Year of publication | 2013 |
| Type | Article in Periodical |
| Magazine / Source | Leukemia & Lymphoma |
| MU Faculty or unit | |
| Citation | |
| Doi | http://dx.doi.org/10.3109/10428194.2012.727414 |
| Field | Oncology and hematology |
| Keywords | PROGNOSIS; FREQUENT |
| Attached files | |
| Description | 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. |