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. 2025 Jan-Dec;67(1):e15859.
doi: 10.1111/ped.15859.

Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia

Ikuo Okuchi  1 , Akira Nishimura  1 , Takahiro Kamiya  1 , Makiko Sasaki  1 , Motoi Yamashita  1 , Akihiro Hoshino  2 , Michiko Kajiwara  3 , Takeshi Isoda  1 , Hirokazu Kanegane  2 , Tomohiro Morio  1 , Masatoshi Takagi  1
Affiliations

Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia

Ikuo Okuchi et al. Pediatr Int. 2025 Jan-Dec.

Abstract

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.

Keywords: NUP98::NSD1; acute myeloid leukemia; clofarabine; digital droplet PCR.

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References

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