JAK2 V617F mutation, mesenteric vein thrombosis, and myeloproliferative disorders.
Mesenteric vein thrombosis is a rare disorder that is often the first manifestation of a systemic condition such as a hypercoagulable state or cancer. In particular, myeloproliferative disorders can present as mesenteric vein thrombosis even in the setting of relatively normal peripheral blood counts. A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute of valine to phenylalanine at position 617 (JAK2 V617F) has been discovered to be prevalent in patients with mesenteric vein thrombosis and myeloproliferative disorders. This article reports a patient who presented with mesenteric vein thrombosis and relatively normal peripheral blood counts. He was diagnosed with essential thrombocythemia after he tested positive for the JAK2 V617F mutation.
Owens
Christopher D
CD
Division of Vascular and Endovascular Surgery, University of California San Francisco, San Francisco, CA 94143, USA. Christopher.owens@ucsfmedctr.org
D000368:Aged; D000925:Anticoagulants / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008641:Mesenteric Vascular Occlusion / Q000097:blood / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D008642:Mesenteric Veins; D017354:Point Mutation; D013920:Thrombocythemia, Essential / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D014057:Tomography, X-Ray Computed; D020246:Venous Thrombosis / Q000097:blood / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D014859:Warfarin / Q000627:therapeutic use
D000925:Anticoagulants; D014859:Warfarin; C507924:JAK2 protein, human; D053614:Janus Kinase 2