and mutations in essential thrombocythemia: Case series and review of literature.

Essential thrombocythemia (ET) is a clonal bone marrow disease, characterized by increased production of platelets along with other clinical and bone marrow findings. Most patients with ET will have a somatic mutation in one of the known gene locations of , or that can upregulate the JAK-STAT pathway. mutation is present in 5% of cases with the most common mutations being and In this report we describe 2 cases of patients with clinical and laboratory picture of ET. One patient carried mutation which is previously unreported in the adult population but has been shown to be a gain-of-function mutation. The other patient carried mutation which is not known to be of clinical importance and has not been previously reported.