Owing to recent advances in genome analysis technology, many chromosomal abnormalities and gene mutations involved in leukemia onset or recurrence have been discovered in acute myeloid leukemia. These findings contribute to not only the clinical usage, such as prognostic factors or minimal/measurable residual disease (MRD) markers, but also to the development of novel molecular-targeted drugs. In this study, the utility of MRD analysis using the NPM1 mutation and prognosis analysis using a highly sensitive KIT mutation detection method will be outlined.
Keywords: Acute myeloid leukemia; Gene mutation; Minimal/measurable residual disease; Molecular diagnosis.