NPM1-mutated acute myeloid leukemia

NPM1-mutated acute myeloid leukemia encompasses ∼60% of patients with normal karyotype acute myeloid leukemia.

Minimal residual disease

Detection of minimal residual disease predicts adverse outcome in patients with acute myeloid leukemia. Currently, minimal residual disease may be detected by RQ-PCR or flow cytometry, both of which have practical and diagnostic limitations.

Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia can also be made by next-generation sequencing. In one-third of patients, sequencing detected alternate NPM1 mutations in addition to the patient’s index mutation, consistent with tumor heterogeneity. Next-generation sequencing provides information without prior knowledge of NPM1 mutation subtype or validation of allele-specific probes as required for RQ-PCR assays, and without generation and interpretation of complex multidimensional flow cytometry data. (24743218)

Open references

 Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing. Salipante SJ, Fromm JR, Shendure J, Wood BL, Wu D. Mod Pathol. 2014 Nov;27(11):1438-46. doi : 10.1038/modpathol.2014.57 PMID: 24743218