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Next-generation sequencing-based minimal residual disease monitoring in patients receiving allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia or myelodysplastic syndrome

Shapiro, Roman M.a; Kim, Dennis Dong Hwanb

doi: 10.1097/MOH.0000000000000464

Purpose of review The monitoring of minimal residual disease (MRD) has important clinical implications in both the pre and postallogeneic stem cell transplant (SCT) setting in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Next-generation sequencing (NGS) is a rapidly improving technology whose application to the monitoring of MRD is an active area of research. We aim to describe existing methods of MRD in AML and MDS, with a focus on the utility of NGS in patients undergoing SCT.

Recent findings Flow cytometry and quantitative PCR have been recommended by the European Leukemia Net as the preferred methods of MRD in AML and MDS, but these methods have limitations in cases without a disease-defining phenotype and genotype. Clinical trials are currently ongoing to assess the use of NGS in the setting of SCT for MDS and AML. Few studies have so far assessed the optimal method of MRD monitoring in the posttransplant setting.

Summary The optimal method for the monitoring of MRD in AML and MDS both pre and post transplant may require more than one technology. NGS holds great promise for the monitoring of MRD, with prospective trials currently ongoing to evaluate its efficacy in this regard.

aAdult Hematology Training Program, Department of Medical Oncology & Hematology, Princess Margaret Cancer Centre/University Health Network

bAllogeneic Blood and Marrow Transplant Program, Department of Medicine, University of Toronto, Toronto, Ontario, Canada

Correspondence to Dennis Dong Hwan Kim, MD, PhD, Allogeneic Blood and Marrow Transplant Program, Department of Medical Oncology and Hematology, Princess Margaret Cancer Center/University Health Network; Department of Medicine, University of Toronto, 610 University Ave. OPG Rm 6-222, Toronto, ON M5G2M9, Canada. Tel: +1 416 946 4501 x 2464; fax: +1 416 946 4563; e-mail:

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