ESH MDS 2024 | Developing patient-specific MRD markers for predicting and preventing MDS relapse post-SCT

Eva Hellström-Lindberg, MD, PhD, Karolinska University Hospital Huddinge, Stockholm, Sweden, discusses research into the development of measurable residual disease (MRD) markers using next-generation sequencing (NGS) and droplet digital polymerase chain reaction (ddPCR) to enable pre-emptive treatment and reduce relapse rates following stem cell transplantation (SCT) in patients with myelodysplastic syndromes (MDS) (NCT02872662). Despite initial assumptions that MRD markers could not be designed for MDS due to a lack of hotspot mutations, NGS and ddPCR were successfully employed to develop patient-specific MRD markers within four weeks of sampling. Using this methodology, patients who were found to be MRD-positive had a higher likelihood of subsequent relapse, and MRD-positivity was associated with routine therapeutic measures, such as donor lymphocyte infusion (DLI) or azacitidine treatment. Prof. Hellström-Lindberg highlights a novel prospective clinical trial that employs this methodology to provide MRD results to investigators within one week of sampling and guide relapse-preventative treatment strategies. This interview took place at the European School of Hematology 9th Translational Research Conference on Myelodysplastic Syndromes (ESH MDS) in Budapest, Hungary.

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