Molecular Diagnostics for Minimal Residual Disease Analysis in Hematopoietic Malignancies

Molecular diagnostics is widely used for residual disease monitoring in hematopoietic malignancies. Amplification targets applicable to the individual patient, testing methodologies, as well as specific laboratory parameters have to be carefully selected. In this chapter, assay strategies are reviewed for different clinical settings. Real-time quantitative PCR (RQ-PCR), flow cytometric cell sorting (FACS) in combination with T-cell and B-cell receptor gene rearrangement PCR or FISH (fluorescence in situ hybridization), and next-generation sequencing (NGS) strategies for myeloid and lymphoid malignancies are outlined. Technical and interpretive challenges are discussed for different assay platforms to help guide clinical professionals.