Molecular diagnostics of lymphoid malignancies

Blood cancer (leukaemia) and lymph node cancer (lymphoma) are increasingly being recognized as clinically heterogeneous diseases. It is therefore important to find markers with predictive value for disease course and survival. Such prognostic markers may also be used for treatment choices in individual patients. In addition, it is becoming increasingly important to sensitively and accurately monitor the effect of the chosen therapy and to adapt the therapy if necessary. This chapter highlights the role of molecular diagnostics in making a diagnosis, for prognostic classification, and for monitoring of lymphoid malignancies (leukaemias and lymphomas). In these assays, especially immunoglobulin (IG) and T-cell receptor (TCR) gene rearrangements are being used as molecular markers. Following an introduction on IG/TCR molecules and the basic mechanisms of the rearrangement processes in the IG/TCR gene complexes, strategies are discussed in which these DNA markers are used for molecular diagnostics of lymphoid malignancies. Next, a brief overview of other molecular markers and their applications in leukaemia and lymphoma diagnostics is given. Finally, new developments are discussed that in time will impact on molecular diagnostics of lymphoid malignancies.

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