Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Analysis of the genomes of four patients with chronic lymphocytic leukaemia, and validation in more than 300 patients, has identified four genes NOTCH1, MYD88, XPO1 and KLHL6 that are recurrently mutated in the condition. Mutations in NOTCH1, MYD88 and XPO1 are thought to contribute to the clinical evolution of the disease. Evidence that NOTCH1 and MYD88 mutations are activating events highlights them as potential therapeutic targets.