IDH2 and NPM1 Mutations Cooperate to Activate Hoxa9/Meis1 and Hypoxia Pathways in Acute Myeloid Leukemia

Molecular and Cellular Pathobiology IDH2 and NPM1 Mutations Cooperate to Activate Hoxa9/Meis1 and Hypoxia Pathways in Acute Myeloid Leukemia

IDH1 and IDH2 mutations occur frequently in acute myeloid leukemia (AML) and other cancers. The mutant isocitrate dehydrogenase (IDH) enzymes convert a-ketoglutarate (a-KG) to the oncometabolite 2-hydroxyglutarate (2-HG), which dysregulates a set of a-KG–dependent dioxygenases. To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which...

The frequency of NPM1 mutations in childhood acute myeloid leukemia

BACKGROUND Mutations in the nucleophosmin (NPM1) gene have been solely associated with childhood acute myeloid leukemia (AML). We evaluated the frequency of NPM1 mutations in childhood AML, their relation to clinical and cytogenetic features and the presence of common FLT3 and RAS mutations. RESULTS NPM1 mutations were found in 8% of cases. They involved the typical type 'A' mutation and one ...

Evaluation of the CD123 Expression and FLT3 Gene Mutations in Patients with Acute Myeloid Leukemia

Background and Objective: Identification of cytogenetic and molecular changes plays an important role in acute myeloid leukemia (AML) patients. Thus, they are used in classification, prognosis and treatment of the disease. The CD123 expression and FLT3 gene mutations are also the variations that may assist in prognosis and treatment of patients with AML.Methods:</...

Genetic Testing for FLT3 and NPM1, and CEBPA Mutations in Acute Myeloid Leukemia

Genetic Testing for FLT3, and NPM1, and CEBPA Mutations in Cytogenetically Normal Acute Myeloid Leukemia