ctDNA in chronic lymphocytic leukemia. Homo sapiens

Several novel therapeutics are poised to change the natural history of chronic lymphocytic leukemia (CLL) and the increasing use of these therapies has highlighted limitations of traditional methods of disease monitoring. Here we demonstrate that circulating tumor DNA (ctDNA) is readily detectable in patients with CLL and reflects changes in tumor burden across different disease compartments following treatment with novel therapies. Serial ctDNA analysis allowed clonal dynamics to be monitored over time, and identified the early emergence of mutations associated with Richter's syndrome. In contrast to conventional disease monitoring, ctDNA provides a unique opportunity for the noninvasive serial analysis of molecular changes in CLL to guide therapeutic decisions.