Chronic lymphocytic leukaemia (CLL) is a B‐cell malignancy and the most prevalent leukaemia in the Western world, most prevalent in elderly individuals. The disease exhibits vast clinical heterogeneity, ranging from a benign disease for many decades, to one requiring immediate treatment. With the application of modern genomic technologies, we now have a detailed view of the genomic architecture of the CLL genome. This includes a detailed catalogue of the genes targeted by copy number changes and mutations in the disease, as well as their clinical impact. In addition, we have an expanding understanding of the epigenetic profile of the disease that gives fundamental insights into the original transforming cell, and the regulatory networks contributing to the disease. This information has considerable clinical implications, improving diagnosis, prognostication and helping to guide therapeutic interventions with greater accuracy. Key Concepts CLL is a disease with a very heterogeneous clinical outcome such that patients can exhibit an indolent or a progressive disease resistant to chemo‐immunotherapy. This reflects considerable biological variability such that the mutational and epigenomic landscape differs between patients. Only by understanding this biological variability can a patient's clinical heterogeneity be understood. Immunogenetic analysis, through the study of immunoglobulin structure, has helped divide CLL patients into two prognostically relevant subgroups. Chromosomal deletions and aneuploidy events, not fusion‐genes and chromosomal rearrangements define CLL, where their presence can aid in patient stratification. The genome of CLL harbours a relatively low number of somatic lesions, but those that are identified target genes important in DNA damage response, cell cycle control, intracellular signalling, RNA processing and chromatin remodelling. Epigenetic analysis of CLL provides important information regarding the cell from which the tumour arose, and also the regulatory mechanisms that are dysregulated.
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