Clinical and biological implications of driver mutations in myelodysplastic syndromes

Date: Nov-26-2013Myelodysplastic 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. Data also identify early driver mutations, most commonly in RNA splicing genes, that may dictate the future evolution of clinical phenotypes with implications for leukemia-free survival.
Through this analysis, investigators demonstrate that the number of mutations indicates worsening survival, and suggest a hierarchy of acquired mutations that dictate the evolution to acute leukemia. These observations underscore the potential of analysis of oncogenic mutations and suggest future pathways for targeted clinical intervention.

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