hematology and oncology
Essential Thrombocythemia
Etiology of Essential Thrombocythemia
Essential thrombocythemia is a clonal hematopoietic stem cell disorder that causes increased platelet production. Essential thrombocythemia usually occurs after age 50 years with increased incidence in females . A Janus kinase 2 (JAK2) enzyme mutation,JAK2V617F, is present in about 50% of patients; JAK2 is a member of the tyrosine kinase family of enzymes and is involved in signal transduction forerythropoietin, thrombopoietin, and granulocyte colony-stimulating factor (G-CSF). mutations ( Etiology reference ). A few patients have an acquired somatic thrombopoietin receptor gene (MPL) mutation. 1.Tefferi A, Wassie EA, Guglielmelli P, et al. Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients.Am J Hematol2014;89(8):E121-E124. doi:10.1002/ajh.23743 