Essential Thrombocythemia: Current Molecular and Therapeutic Insights

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Fatin M. Al-Sayes
Kalamegam Gauthaman


Essential thrombocythemia, Myeloproliferative neoplasms, JAK2V617F mutation, MPLW515L/K mutation, Calreticulin mutation


Essential thrombocythemia is one of the Philadelphia chromosome negative, clonal myeloproliferative disorders involving the hematopoietic stem cells and is characterized by elevated platelet counts and attendant thromboembolic phenomenon. A point mutation in the Janus-Activated Kinase 2 gene (JAK2V617F) accounts for nearly 50% of Essential thrombocythemia patients while about 10% have mutations in the thrombopoetin receptor (MPL) gene (MPLW515L/K). Several other genes are implicated, clearly indicating the existence of drivers both common and uncommon in the causation of Essential thrombocythemia. Genotyping for mutations will therefore be a useful diagnostic tool for detection of Janus-Activated Kinase 2 negative, MPL negative, Essential thrombocythemia patients. An integrated approach of systematic analysis leading to accurate diagnosis will enable risk stratification and institution of therapy following the World Health Organization guidelines. In addition to Janus-Activated Kinase inhibitors, a combination of agents that has anti-inflammatory properties could help prevention and/or reversal of fibrosis.

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