Monitoring Minimal Residual Disease in RUNX1-Mutated Acute Myeloid Leukemia

Acta Haematol. 2022;145(6):642-649. doi: 10.1159/000526353. Epub 2022 Aug 5.


Introduction: Mutated RUNX1 is considered a poor prognostic factor and usually is mutually exclusive with NPM1 mutations. Monitoring of molecular markers for minimal residual disease provides a powerful tool to assess remission and guide clinical decisions.

Methods: Newly diagnosed RUNX1-mutated AML patients, designated to intensive chemotherapy-based treatment or nonintensive regimens, were monitored for mutated RUNX1 transcript levels by qPCR with patient-specific primers. Samples were obtained along the treatment course and follow-up.

Results: A clear correlation was observed between mutated RUNX1 levels and response to treatment as observed by flow cytometry and STR-based assessment.

Conclusion: We demonstrate the feasibility of RUNX1-based MRD to correlate with the clinicopathological status of leukemia. We further suggest how RUNX1 qPCR monitoring can influence clinical decision-making and contribute to improved personalized patient care.

Keywords: Acute myeloid leukemia; Minimal residual disease; RUNX1 mutation.

MeSH terms

  • Core Binding Factor Alpha 2 Subunit* / genetics
  • Flow Cytometry
  • Humans
  • Leukemia, Myeloid, Acute* / diagnosis
  • Leukemia, Myeloid, Acute* / drug therapy
  • Leukemia, Myeloid, Acute* / genetics
  • Mutation
  • Neoplasm, Residual / diagnosis
  • Neoplasm, Residual / genetics
  • Prognosis
  • Real-Time Polymerase Chain Reaction


  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human

Grant support

No funding to report.