Mariam Alhilali: Every cell counts: MRD-Seq for sensitive residual disease detection in acute myeloid leukaemia

<p dir="ltr">Acute myeloid leukaemia (AML) is an aggressive blood cancer with high relapse rates. Detecting small numbers of leukaemic cells remaining after treatment, known as the measurable residual disease (MRD), is vital for assessing treatment response and guiding therapy. However, current MRD tests are limited by the genetic diversity of AML, as most patients carry unique mutations.</p><p dir="ltr">We developed MRD-Seq, a sequencing–based method for MRD detection that can be adapted to any mutation without the need for individual calibration and new standards. MRD-Seq uses error-corrected PCR to amplify regions containing disease-specific mutations, which are then sequenced and quantified to measure residual disease.</p><p dir="ltr">Testing the method with serially diluted AML cell lines, MRD-Seq demonstrated high sensitivity and unlike current methods, MRD-Seq can be easily adapted for any mutation, allowing MRD monitoring in most patients. MRD-Seq could improve detection accuracy, enable earlier relapse detection, and guide better treatment decisions for AML patients.</p>