Isocitrate dehydrogenase mutations in leukemia.

Mutation Analysis of Isocitrate Dehydrogenase (IDH1/2) and DNA Methyltransferase 3A (DNMT3A) in Thai Patients with Newly Diagnosed Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clonal hematopoietic stem/progenitor cell disorder which features several genetic mutations. Recurrent genetic alterations identified in AML are recognized as causes of the disease, finding application as diagnostic, prognostic and monitoring markers, with potential use as targets for cancer therapy. Here, we performed a pyrosequencing technique to investigate ...

Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value.

Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML series, and also in various other hematologic malignancies. Here, we demonstrate in 893 newly diagnosed cases of AML mutations in the IDH1 (6%) and IDH2 (11%) gene...

Location and type of isocitrate dehydrogenase mutations influence clinical characteristics and disease outcome of acute myeloid leukemia

CLINICAL TRIALS AND OBSERVATIONS IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status

Mutations in the IDH1 gene at position R132 coding for the enzyme cytosolic isocitrate dehydrogenase are known in glioma and have recently been detected also in acute myeloid leukemia (AML). These mutations result in an accumulation of -ketoglutarate to R (2)-2-hydroxyglutarate (2HG). To further clarify the role of this mutation in AML, we have analyzed IDH1R132 in 1414 AML patients. We detecte...

The Role of Isocitrate Dehydrogenase Mutations in Glioma Brain Tumors

Isocitrate dehydrogenases (IDHs) are enzymes long known to biologists as a component of the tricarboxylic acid (TCA) cycle that converts isocitrate to α-ketoglutarate (α-KG) with production of NADH and/or NADPH. However, it was mainly viewed as a “housekeeping” gene by cancer biologists with no previously defined role in cancer. This changed in 2008 with the discovery that IDH1 was frequently m...