Chronic mature B-cell lymphoproliferative disorders, i.e. B-cell chronic lymphocytic leukaemia and plasma cell dyscrasias such as multiple myeloma, have a variable disease course. Clinical staging systems and several biological parameters have been used to estimate tumour burden and predict prognosis. In addition, cytogenetic aberrations have prognostic significance and are therefore investigated in the routine evaluation of these diseases. In this doctoral study, we evaluated available techniques, which can be applied to detect cytogenetic abnormalities in the routine investigation of chronic lymphocytic leukaemia and multiple myeloma. Next, we characterised cytogenetic entities, in particular translocations involving immunoglobulin genes and the proto-oncogenes BCL2 and MYC and investigated clonal evolution in chronic lymphocytic leukaemia.

(BELG J HEMATOL 2014;5(1):25–30)