Genetic abnormalities of acute myeloid leukemia (AML) include chromosomal translocations and gene mutations. Commonly observed chromosomal abnormalities in AML are t (8;21), t (15;17), inv (16), and 11q23-related translocations. These aberrations produce RUNX1-RUNX1T1, PML-RARA, CBF-MYH11, and MLL-fusion genes, respectively, which promote leukemic stem cell formation by interfering with hematopoietic differentiation and enhancing the self-renewal capacity of hematopoietic cells. Gene mutations recurrently occur in transcription factors, signaling molecules, tumor suppressor genes, epigenetic regulators, RNA splicing factors, and cohesion complexes, with FLT3, NPM1, and DNMT3A being the most frequently mutated genes in AML. Recent studies disclosed the biological function of mutated genes and their correlation with prognosis. Based on these findings, development of novel therapeutic drugs targeting mutated genes or dysregulated genetic pathways is underway.
Keywords: AML; Acute myeloid leukemia; Genomic abnormality.