Measurable Residual Disease Testing Using Next-Generation Sequencing in Acute Myeloid Leukemia

Abstract

Measurable residual disease (MRD) is an important prognostic indicator of AML and is critical for risk stratification of treatment decisions [1]. Detecting MRD in patients with morphologically determined marrow with <5% blasts is important for refining the risk classification of AML [1, 2]. MRD detection in AML enables refined outcome prediction, impending relapse identification, and early intervention [1]. Several laboratory techniques can be utilized for the sensitive and accurate detection of MRD in AML and other hematologic malignancies. In clinical laboratories, molecular diagnostic methods, such as FISH and reverse transcription (RT)-PCR, have been used for the detection of recurrent fusion genes [3-4]. Newer diagnostic technologies, including droplet digital PCR (ddPCR), multiparametric flow cytometry, and next-generation sequencing (NGS), enable sensitive detection of MRD (up to 10-3–10-6 leukemic cell burden) [1, 4-6].