Next-generation sequencing (NGS) for detecting clonal immunoglobulin (IG) and T-cell receptor (TCR) gene rearrangements is a highly sensitive and specific method for monitoring minimal residual disease (MRD) in patients with acute lymphoblastic leukemia (ALL). Although a standardized testing method for ALL MRD monitoring using NGS IG and TCR gene rearrangement assays has been proposed, no guidelines or recommendations for interpreting and reporting these results have been established thus far. Thus, in the present study, we propose a set of guidelines for interpreting and reporting MRD-associated data using NGS IG and TCR gene rearrangement assays in patients with ALL. These guidelines include the selection and reporting of representative index sequences and interpretation of MRD analysis results based on the limit of detection and lower limit of quantitation.

Next-generation sequencing, Immunoglobulin gene, T-cell receptor gene, Acute lymphoblastic leukemia, Minimal residual disease, Interpretation, Reporting, Guidelines