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 and overall survival with frontline induction and consolidation chemotherapy.
The NPM1 mutation has a recurrence rate of approximately 30% in AML and is mutually exclusive of other AML recurrent genetic abnormalities. As expected for a founder genetic lesion, the NPM1 mutation is stable over the course of disease and appears to precede FLT3-ITD.
The NPM1 mutation in patients with AML, excluding those with the M3 subtype, is a favorable factor for achieving complete remission after induction chemotherapy, but it implicates a high relapse rate.
References:
- Falini, B et al. (2011) Blood: 117 (4)
- Suzuki, T et al. (2005) Blood NY8 (2005): 2854.
