How I investigate minimal residual disease in acute lymphoblastic leukemia

• Published in: International journal of laboratory hematology Vol. 43; no. 3; pp. 354 - 363
• Main Authors: Correia, Rodolfo P., Bento, Laiz C., de Sousa, Flávia A., Barroso, Rodrigo de S., Campregher, Paulo V., Bacal, Nydia S.
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.06.2021
• Subjects: Acute lymphoblastic leukemia; Clinical trials; Flow cytometry; Immunoglobulins; Leukemia; Lymphatic leukemia; Minimal residual disease; MRD techniques; Polymerase chain reaction; Remission; Standardization; Transcription; acute lymphoblastic leukemia; MRD techniques; minimal residual disease
• ISSN: 1751-5521; 1751-553X
• DOI: 10.1111/ijlh.13463

Minimal Residual Disease (MRD) is the most important independent prognostic factor in acute lymphoblastic leukemia (ALL) and refers to the deep level of measurable disease in cases with complete remission by conventional pathologic analysis, especially by cytomorphology. MRD can be detected by multiparametric flow cytometry, molecular approaches such as quantitative polymerase chain reaction for immunoglobulin and T‐cell receptor (IG/TR) gene rearrangements or fusion genes transcript, and high‐throughput sequencing for IG/TR. Despite the proven clinical usefulness in detecting MRD, these methods have differences in sensitivity, specificity, applicability, turnaround time and cost. Knowing and understanding these differences, as well as the principles and limitations of each technology, is essential to laboratory standardization and correct interpretation of MRD results in line with treatment time points, therapeutic settings, and clinical trials. Here, we review the methodological approaches to measure MRD in ALL and discuss the advantages and limitations of the most commonly used techniques.