The functional consequences of preleukemic mutations

Our original work (Shlush Nature 2014) identified high mutant allele frequencies of preleukemic mutations in mature myeloid cells among AML patients in long term remission. This observation suggests that in some cases almost the entire monocyte/macrophage/neutrophil population can be derived from a preleukemic progenitor. The functional consequences of the mutations on mature myeloid cells is of great interest, as observations in elderly suggest that one of the major cause of death in the elderly is infection due to myeloid dysfunction. In our lab we follow healthy individuals with preleukemic mutations to try and learn their functional consequences.