Studies have been ongoing for many years in patients with chronic lymphocytic leukaemia (CLL), the most frequent form of leukaemia in the elderly. However, we still do not understand why some patients live with the disease without needing treatment for a long period of time, while in others it advances quite rapidly. Determining why CLL presents such different development would enable us to know how we can better treat each group of patients and avoid them experiencing a negative evolution of their disease.
In our project we sequenced the leukaemia genome at different moments of the evolution of LLC. We have developed new bioinformatic tools to interpret alterations in little-studied areas of the genome and in collaboration with researchers at the University of Toronto in Canada have discovered new mutations in the U1 gene, located in hitherto unexplored regions of the genome. These mutations cause a more aggressive evolution of the disease and offer a new target for directed treatments that we are currently exploring. Moreover, we have seen that these mutations also appear in other cancers, such as those of the liver and bladder, and in medulloblastoma. The bioinformatic tool we have created, IgCaller, enables the analysis of complex regions of the genome that are essential for the functioning of leukaemia cells, and will facilitate the inclusion of genome-wide analysis in clinical practice in the short term.