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Clin Lymphoma Myeloma Leuk. 2018 Oct;18(10):636-647. doi: 10.1016/j.clml.2018.06.017. Epub 2018 Jun 27.

Molecular Minimal Residual Disease Testing in Acute Myeloid Leukemia: A Review for the Practicing Clinician.

Author information

1
Department of Medicine, Section of Hematology/Oncology, The University of Chicago, Chicago, IL. Electronic address: ahantel@medicine.bsd.uchicago.edu.
2
Department of Medicine, Section of Hematology/Oncology, The University of Chicago, Chicago, IL.

Abstract

Minimal residual disease (MRD) testing in acute myeloid leukemia is increasingly being used to assess treatment response and stratify the risk of relapse for individual patients. Molecular methods for MRD testing began with PCR-based assays for individual recurrent mutations. To date, there is robust evidence for testing NPM1, CBFB-MYH11, and RUNX1/RUNXT1 mutations using this approach, though the best timing and threshold level for each mutation varies. More recent approaches have been with PCR-based multigene panels, occasionally combined with flow cytometric techniques, and next-generation sequencing techniques. This review outlines the various techniques used in molecular approaches to MRD, the evidence behind individual mutation testing, and the novel approaches for evaluating multigene MRD so that clinicians can understand and incorporate these evaluations into their practice.

KEYWORDS:

Molecular techniques; Next-generation sequencing; Panel testing; Remission; Stem-cell transplantation

PMID:
30006258
DOI:
10.1016/j.clml.2018.06.017

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