Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia.
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BACKGROUND: NUP98 fusion genes are detected in acute myeloid leukemia (AML) subgroups that have a poor prognosis. An appropriate therapeutic approach should therefore be established. Treatment intensification according to the minimal residual disease (MRD) level can lead to a better prognosis in patients with acute lymphoblastic leukemia (ALL). However, the importance of MRD monitoring in the patient with NUP98-positive AML is unclear. METHODS: This study aimed to develop a digital droplet polymerase chain reaction (ddPCR) method for monitoring NUP98::NSD1-positive leukemic cells and to report its utility compared with the results of NUP98 split fluorescence in situ hybridization (FISH). RESULTS: The results of NUP98::NSD1 ddPCR correlated with those of NUP98 split FISH and were more sensitive than NUP98 split FISH. The sensitivity of ddPCR was 0.001%, equivalent to 1 in 1 × 105 cells. The MRD level of NUP98::NSD1, measured by ddPCR, correlated well with relapse. CONCLUSION: The use of ddPCR to target NUP98::NSD1 chimera mRNA for MRD monitoring would be beneficial for NUP98::NSD1 AML treatment.