Genetic alterations in chronic lymphocytic leukaemia

Chronic lymphocytic leukaemia (CLL), the commonest form of leukaemia in adults in Western countries, is a genetically heterogeneous disease. The most frequent genetic alterations are deletions in 13q14, 17p13 (TP53) and 11q22-q23 (ATM), and trisomy of chromosome 12. Furthermore, additional alterations have been described. The most relevant techniques used for detection of genetic alterations in CLL include comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH). Recently, PCR-based techniques, such as multiplex ligation-dependent probe amplification (MLPA), have been used to detect genetic alterations in CLL. This review summarises the genetic alterations described in CLL and the techniques used for their detection.