Minimal residual disease monitoring by flow cytometry

In patients with acute leukaemia, studies of minimal residual disease (MRD) provide powerful and independent prognostic information. Multiparameter flow cytometry is a widely applicable and reliable approach for monitoring MRD. Using triple or quadruple marker combinations, aberrant or uncommon phenotypic profiles can be identified in about 80% of patients with acute myeloid leukaemia (AML) and 95% of patients with acute lymphoblastic leukaemia (ALL). These profiles can reveal leukaemic cells even when these are not evident by morphological analysis. Thus, one leukaemic cell among 1000–10 000 normal bone marrow or peripheral blood cells can be routinely detected. In this chapter we discuss technical aspects of MRD detection by flow cytometry and summarize results of correlative studies between MRD, clinical and biological features of leukaemia and treatment outcome. Current knowledge indicates that MRD studies using well-tested methodologies are clinically useful and should be incorporated into the clinical management of patients with acute leukaemia.