Nucleus, MRD

Mutational screening for early relapse prediction post-transplantation

Dimitriou M, Mortera-Blanco T, Tobiasson M, et al. Identification and Surveillance of Rare Relapse-Initiating Stem Cells During Complete Remission Post-Transplantation. Blood. 2023; (doi: 10.1182/blood.2023022851).


Relapse after achieving complete remission (CR) is the leading cause of death following allogeneic stem cell transplantation, but scientists say mutational screening can provide early warning and increase the potential for preemptive relapse care. Mutational screening is able to detect rare relapse-triggering cancer stem cells even while patients are in CR. Additionally, mutational screening of hematopoietic stem and progenitor cells (HSPCs) nearly doubles sensitivity to the presence of measurable residual disease (MRD). These conclusions are based on findings from a retrospective study of patients with myelodysplastic syndromes and related myeloid malignancies, in whom mutational screening of bone marrow was performed at various intervals post-transplantation. In 25 CR samples from 15 patients who suffered relapse, HSPCs were MRD-positive in all samples, whereas the cells remained MRD-negative in samples from 13 patients in long-term, continuous CR. In some cases, MRD was evident in HSPCs as many as 2 years before relapse.

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