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A single letter change in the JAK2 gene that jams the growth signal for blood cells in the on position. Almost everyone with polycythaemia vera has it, as do about half of those with essential thrombocythaemia or myelofibrosis.
JAK2 V617F swaps one amino acid (valine for phenylalanine at position 617) in the Janus kinase 2 enzyme, removing its brake so that red cell, platelet and white cell precursors grow without the normal hormone signals. Found in 2005, it is present in about 95 percent of polycythaemia vera and 50 to 60 percent of essential thrombocythaemia and primary myelofibrosis. The share of blood cells carrying it (the allele burden) tracks disease bulk and falls with interferon treatment, which is why it is used as a marker of molecular response.
In plain words · The signalling enzyme that tells marrow cells to make red cells and platelets; a single mutation (V617F) leaves it switched on in most myeloproliferative neoplasms.
Showing the target this term concerns: JAK2.
Shares Essential thrombocythaemia (ET), Polycythaemia vera (PV), Ruxolitinib, Primary myelofibrosis and the tags polycythaemia-vera, mpn.
Shares Ropeginterferon alfa-2b, Polycythaemia vera (PV), Ruxolitinib, Myeloproliferative neoplasms (PV, ET, myelofibrosis) and the tags polycythaemia-vera, mpn.
Shares Essential thrombocythaemia (ET), Polycythaemia vera (PV), Myeloproliferative neoplasms (PV, ET, myelofibrosis) and the tags polycythaemia-vera, mpn.
Shares Polycythaemia vera (PV), JAK2 and the tags polycythaemia-vera, mpn.
Shares Ropeginterferon alfa-2b, Polycythaemia vera (PV), JAK2, Ruxolitinib and the tags polycythaemia-vera, mpn.
Shares Polycythaemia vera (PV), Ruxolitinib, Myeloproliferative neoplasms (PV, ET, myelofibrosis) and the tags polycythaemia-vera, mpn.
Shares Polycythaemia vera (PV), Ruxolitinib and the tags polycythaemia-vera, mpn.
Shares Ropeginterferon alfa-2b, Polycythaemia vera (PV) and the tags polycythaemia-vera, mpn.