CEBPA mutations CCAAT/enhancer binding protein α (CEBP/α) is a leucine zipper transcription factor with a pivotal role in myeloid differentiation. Mutations in the CEBPA gene have been described in approximately 10% of patients with AML, in particular those with intermediate-risk karyotypes. They can occur across the whole gene but cluster in two main hotspots. AML with mutated CEBPA […]
NPM1 mutation The NPM1 mutation or its immunohistochemical surrogate (cytoplasmic nucleophosmin) appears to be restricted to AML and is usually expressed in the whole leukemic population. In patients with acute myeloid leukemia (AML) and intermediate-risk cytogenetics, nucleophosmin-1 (NPM1) mutation status and internal tandem duplication of FLT3 gene (FLT3-ITD) can assist in predicting a patient’s risk of relapse
FLT3 mutations Mutations in the fms-like tyrosine kinase-3 gene (FLT3) gene are common in AML and are present in approximately 30% of diagnoses. The most common abnormality in FLT3 (23-34%) are internal tandem duplication (FLT3-ITD). FLT3-ITD encodes an abnormal protein that induces dimerization and constitutive activation of STAT5, JAK2 and MAPK pathways leading to increased
