NPM1 Measurable Residual Disease Prognostic in Acute Myeloid Leukemia

Patients testing positive for NPM1 MRD pre-alloHCT have significantly increased rates of relapse, reduced overall survival
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THURSDAY, March 19, 2026 (HealthDay News) -- For adults with acute myeloid leukemia (AML), pretransplant NPM1 measurable residual disease (MRD) is prognostic for relapse, according to a study recently published in Bone Marrow Transplantation.

Rasha W. Al-Ali, from the Virginia Tech FBRI Cancer Research Center in Washington, D.C., and colleagues performed NPM1 MRD detection in blood collected from 190 adults with AML during first complete remission prior to allogeneic hematopoietic cell transplantation (alloHCT) using a highly sensitive assay (Invivoscribe [IVS]). The results were compared to those previously reported using an anchored multiplex polymerase chain reaction-based (AMP) targeted next-generation sequencing assay.

The testing was successful for 186 of the 190 patients (98 percent); of these, 48 and 64 (26 and 34 percent) relapsed and died, respectively, post-alloHCT. The researchers detected 71 patients (38 percent) with NPM1 insertion variants using the IVS assay, with a median variant allele fraction (VAF) of 0.0026 percent. Concordance between the IVS and AMP assays was 96 percent using the previously reported VAF threshold of 0.01 percent. Twenty-four patients tested positive for NPM1 MRD pre-alloHCT by the IVS test using this threshold; compared with those testing negative, they had significantly increased rates of relapse (52 versus 20 percent at three years; hazard ratio, 4.3) and reduced overall survival (34 versus 71 percent at three years; hazard ratio, 3.6).

"Large, carefully designed studies are essential for systematically improving the standards in how we monitor and treat this rare disease," lead author Christopher S. Hourigan, D.M., also from Virginia Tech, said in a statement.

Several authors disclosed ties to the biopharmaceutical industry, including Invivoscribe.

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