Cytogenetics is important for the successful management of patients with acute leukaemia. The discovery and characterisation of genetic aberrations has increased our understanding of the biology of the disease and provided prognostic and predictive markers which have improved patient outcome. Since 1992, the Leukaemia Research Cytogenetics Group has been at the forefront of these areas of research and has made several significant contributions in the last five years. The backbone of our research programme has been the ongoing curation, investigation and analysis of UK clinical trial data coupled with the use of state-of-art technologies.

In this forthcoming programme we plan to:

(1) continue our collection and analysis of trial based data to evaluate novel and existing prognostic and predictive genetic markers in acute lymphoblastic leukaemia (ALL)

(2) use Multiplex Ligation-dependent Probe Amplification (MLPA) and high throughput next-generation sequencing to determine the biological and clinical significance of copy number alterations and somatic mutations affecting key genes involved in pathways implicated in the development of B- and T-lineage ALL

(3) elucidate the genetic mechanisms related to relapse in ALL; and

(4) unravel the significance of chromosomal abnormalities in acute myeloid leukaemia to devise an improved cytogenetic risk scoring system.