Acute Myeloid Leukaemia (AML) constitutes 80% of acute leukaemia in adults and is characterized by clonal expansion of hematopoietic stem cells, driven by genomic alterations, that confer a selective growth advantage to the mutant clones. AML remains one of the most challenging blood cancers to manage.

Even following apparent remission, microscopic traces of leukemic cells, referred to as Minimal Residual Disease (MRD), can lead to relapse if left undetected. NPM1 mutations, present in nearly one-third of adult AML cases, serve as a stable molecular marker for monitoring disease activity. NPM1-mutated AML (NPM1mut-AML) has been reclassified as a distinct entity in both the 2022 World Health Organization (WHO 2022) and European Leukemia Network (ELN 2022) classifications on myeloid neoplasms, requiring more than 10% leukemic blasts for diagnosis.

NPM1mut is considered a “gatekeeper” mutation and appears to be an initial event in the process of leukemogenesis and the development of overt leukemia. NPM1mut-AML, in the absence of other genetic abnormalities, is categorized as a favorable prognosis, demonstrating improved disease-free survival (DFS), overall survival (OS), and reduced relapse rates.

Detecting and quantifying MRD in these patients is essential for monitoring disease, risk stratification, tailoring therapy, improving prognosis and predicting relapse.

On October 24, 2025, the Food and Drug Administration approved revumenib, a menin inhibitor, for relapsed or refractory acute myeloid leukaemia with a susceptible nucleophosmin 1 (NPM1) mutation in adult and paediatric patients 1 year and older who have no satisfactory alternative treatment options based a single-arm cohort of an open-label, multicentre trial (SNDX-5613-0700, NCT04065399; AUGMENT-101) [https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-revumenib-relapsed-or-refractory-acute-myeloid-leukemia-susceptible-npm1-mutation]. Additionally, the FDA is reviewing ziftomenib based on the Phase 1/2 KOMET-001 trial.

MedGenome’s NPM1-MRD Detect is a precision qRT-PCR-based assay that accurately measures MRD in NPM1-mutated AML patients.

• Quantification follows European Leukaemia Network (ELN) guidelines.
• Validated with NGS-confirmed samples for reliability.
• Detects <2 copies with a wide dynamic range (up to 4 log reductions).
• Enables real-time therapy monitoring and relapse prediction.
• Results interpreted with report to Baseline molecular report

Mutations Coverage

Turnaround Time: 3 working days
Sample: Bone marrow aspirate (EDTA) or peripheral blood

By combining molecular precision with rapid results, NPM1-MRD Detect empowers clinicians to monitor treatment efficacy and detect relapse risk—early, accurately, and effectively.

To know more: Call 1800 296 9696 or email diagnostics@medgenome.com