JAK2 (Janus Kinase 2) is a tyrosine kinase. A mutation in JAK2 may be associated with thrombosis and/or certain myeloproliferative disorders.
Mutation in JAK2: JAK2(V617F)
Myeloproliferative disorders associated with JAK2(V617F) include Philadelphia chromosome-negative essential thrombocythemia and polycythemia vera.
Sites of thrombosis associated with JAK2(V617F):
(1) hepatic vein, resulting in the Budd-Chiari syndrome
(2) portal vein
(3) splanchnic vein
(4) mesenteric vein
(5) cerebral sinus or vein
(6) other deep vein thrombosis
A patient with unexplained thrombosis should be screened for JAK2 mutations. A patient without evidence of myeloproliferative disease should be monitored for evolution into one.
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Specialty: Hematology Oncology, Clinical Laboratory