Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia

Abstract

Minimal residual disease (MRD) refers to a chemotherapy/radiotherapy-surviving leukemia cell population that gives rise to relapse of the disease. The detection of MRD is critical for predicting the outcome and for selecting the intensity of further treatment strategies. The development of various new diagnostic platforms, including next-generation sequencing (NGS), has introduced significant advances in the sensitivity of MRD diagnostics. Here, we review current methods to diagnose MRD through phenotypic marker patterns or differential gene patterns through analysis by flow cytometry (FCM), polymerase chain reaction (PCR), real-time quantitative polymerase chain reaction (RQ-PCR), reverse transcription polymerase chain reaction (RT-PCR) or NGS. Future advances in clinical procedures will be molded by practical feasibility and patient needs regarding greater diagnostic sensitivity.

Keywords: B-cell acute lymphoblastic leukemia; T-cell acute lymphoblastic leukemia; acute lymphoblastic leukemia; flow cytometry; minimal residual disease; next-generation sequencing; polymerase chain reaction.

Figure 1

Detection methods for minimal residual disease (MRD). Methods to diagnose MRD either through phenotypic marker patterns or differential gene patterns through analysis by FCM (flow cytometry), PCR (polymerase chain reaction), RQ-PCR (real-time quantitative polymerase chain reaction), RT-PCR (reverse transcription polymerase chain reaction) or NGS (next-generation sequencing).