ABSTRACT
Detection of minimal residual disease (MRD) by sensitive techniques may be of value in determining the relative importance of various treatment phases, in predicting outcome in individual cases and in developing new or individualised schemes of treatment for different patient groups. This chapter focuses principally on the use of polymerase chain reaction (PCR) techniques for the detection of MRD based on methods that exploit “tumour-specific” genetic changes. Since translocations identify specific molecular markers of the leukaemic proliferation they can be used for MRD investigation by PCR with a far higher sensitivity than by cytogenetic analysis. MRD detection at the morphological, clinical and molecular level remains a very important analysis in the assessment of the quality of complete remission of leukaemic patients. Although cytogenetic and Southern blotting remain valid and relatively fast methods of investigation for the detection of clones at presentation, PCR remains the most sensitive technique for the investigation of MRD in remission patients.
