Myeloproliferative neoplasms – from origins to outcomes05 Oct 2017
Substantial progress has been made in our understanding of the pathogenetic basis of myeloproliferative neoplasms. The discovery of mutations in JAK2 over a decade ago heralded a new age for patient care as a consequence of improved diagnosis and the development of therapeutic JAK inhibitors. The more recent identification of mutations in calreticulin brought with it a sense of completeness, with the vast majority of MPN patients now having a biological basis for their excessive myeloproliferation. We are also beginning to understand the processes that lead to acquisition of somatic mutations, and the factors that influence subsequent clonal expansion and emergence of disease. Extended genomic profiling has established a multitude of additional acquired mutations, particularly prevalent in MF where their presence carries prognostic implications. A major goal is to integrate genetic, clinical and laboratory features to identify patients that share disease biology and clinical outcome such that therapies, both existing and novel, can be better targeted.