Clinical Value of MRD Testing Illustrated with Case Studies

The value of MRD testing to refine clinical decision-making and personalize treatment for patients with acute myeloid leukemia with NPM1 mutations, core binding factor translocations, and other fusion genes is demonstrated in a series of real-life case studies presented in a review article in the British Journal of Haematology.

“MRD is likely to play an increasing role in clinical trials and its importance as an outcome measure is now recognised,” Richard Dillon, MBBS, of King’s College, London, and his colleagues write. “However, this technology also permits innovations in clinical trial design, e.g. the identification of patients with molecular relapse opens a window for testing novel therapies, and close monitoring provides a rapid readout of efficacy to avoid compromising patient outcome” – an approach similar to “window of opportunity” trial designs proposed for other cancer types.

Although compelling data support the use of next-generation sequencing for MRD detection, the authors caution that “until these techniques are sufficiently standardised and validated we do not recommend their use outside clinical trials.”

  • Dillon R, Potter N, Freeman S, Russell N. How we use molecular minimal residual disease (MRD) testing in acute myeloid leukaemia (AML). Br J Haematol. 2021;193(2):231-244. doi:10.1111/bjh.17185

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