Clinical and biological implications of driver mutations in myelodysplastic syndromes

Myelodysplastic syndromes are a heterogeneous group of stem cell disorders that have been associated with a variety of mutations in genes involved in RNA splicing, chromatin modulation, and cell signaling pathways. In this week's issue of Blood, Papaemmanuil and colleagues provide new insights into the clonal evolution of these mutations and their role in the evolution of MDS. In the manuscript investigators detail results of their efforts to sequence 111 genes in 738 patients, demonstrating the sequential occurrence of mutations that dictate prognosis and risk of acute leukemia.