Molecular methods for measurable residual disease in acute myeloid leukemia: where are we and where are we going?

Abstract

Measurable residual disease (MRD) testing has become a standard practice for patients with acute myeloid leukemia (AML) following therapy. However, MRD testing in AML is not straightforward, and both molecular methods and multiparameter flow cytometric (MFC) methods demonstrate clinical utility. While MFC methods are potentially applicable to all AML patients, current molecular MRD methods must be individually tailored to the patient’s AML disease genetics, a strategy that is currently applied for patients with acute promyelocytic leukemia, core binding factor AML, and AML with mutated NPM1. However, there is great interest in next-generation sequencing (NGS) methods for MRD assessment, an approach that could potentially be applied to all patients with AML. Current NGS methods have limited analytic sensitivity when compared with other molecular methods and MFC, but advances in NGS methods and informatic algorithms may improve NGS MRD testing in the near future. In this review, we discuss current recommendations for molecular MRD assessment in AML and discuss opportunities and challenges for MRD assessment by NGS methods.