Overview. Cytogenetic analysis in haematology.

Cytogenetic analysis has contributed greatly to our understanding of the nature of leukaemia and lymphoma. Study of these two groups of diseases has revealed general truths about the nature of the neoplastic process. Cytogenetic analysis has demonstrated that haematological neoplasms result from a somatic mutation occurring in a haemopoietic, lymphoid or multipotent stem cell. Complete remission has been related to disappearance of the clone of cells bearing the mutation whereas the occurrence of clonal evolution has often been found to be indicative of increasingly aggressive disease. Cytogenetic analysis of leukaemias and lymphomas has led to the discovery of numerous proto-oncogenes; these generally play a crucial role in proliferation and differentiation of normal cells with a perturbation of their function leading to neoplasia. In addition, cytogenetic evidence has suggested a role for loss of function of cancer-suppressing genes in haematological neoplasms. Cytogenetic analysis has also made major contributions to precise diagnosis and to the assigning of prognosis and, furthermore, by identifying good and poor prognostic groups has improved the management of patients. Good-prognosis patients have been spared unnecessary treatment and, conversely, more intensive treatment for some diseases associated with a cytogenetic abnormality that was previously indicative of a poor prognosis has improved the outcome for these patients.