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Thrombocytosis Skoda RCHematology Am Soc Hematol Educ Program 2009[]; ä (ä): 159-67Major progress in understanding the pathogenesis in patients with thrombocytosis has been made by identifying mutations in the key regulators of thrombopoietin: the thrombopoietin receptor MPL and JAK2. Together, these mutations can be found in 50% to 60% of patients with essential thrombocythemia or primary myelofibrosis and in 10% to 20% of hereditary thrombocytosis. A decrease in expression of the Mpl protein can cause thrombocytosis even in the absence of mutations in the coding sequence, due to a shift in the balance between stimulation of signaling in megakaryopoiesis and removal of thrombopoietin by receptor mediated internalization in platelets. When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis. In 30% to 40% of patients with ET or primary myelofibrosis (PMF) and in 80% to 90% of pedigrees with hereditary thrombocytosis the disease-causing gene remains unknown. Ongoing genetic and genomic screens have identified genes that, when mutated, can cause thrombocytosis in mouse models. A more complete picture of the pathways that regulate megakaryopoisis and platelet production will be important for finding new ways of controlling platelet production in patients with thrombocytosis.|*Mutation[MESH]|Adult[MESH]|Amino Acid Substitution[MESH]|Animals[MESH]|Disease Models, Animal[MESH]|Humans[MESH]|Janus Kinase 2/*genetics/physiology[MESH]|Mice[MESH]|Mice, Inbred C57BL[MESH]|Mutation, Missense[MESH]|Polycythemia Vera/genetics[MESH]|Primary Myelofibrosis/genetics[MESH]|Receptors, Thrombopoietin/deficiency/*genetics/physiology[MESH]|Recombinant Fusion Proteins/physiology[MESH]|STAT Transcription Factors/physiology[MESH]|Thrombocythemia, Essential/genetics[MESH]|Thrombocytosis/*genetics[MESH]|Thrombopoiesis/genetics[MESH]|Thrombopoietin/biosynthesis/*genetics/physiology[MESH]|Transduction, Genetic[MESH] |
