Detection of the JAK2V617F mutation in patients with slightly elevated platelets or hemoglobin without a secondary cause.
Recently, an activating somatic mutation of Janus kinase 2 (JAK2V617F) was identified in the myeloproliferative disorders (MPDs). In this study, we investigated the occurrence of JAK2V617F in patients with slightly elevated platelets or hemoglobin without a secondary cause, who did not meet the criteria of polycythemia vera or essential thrombocythemia. Six out of 18 patients (33%) were positive for the JAK2 mutation, and five of these six patients had a history of thrombosis. These findings suggest that apart from thrombocytosis/erythrocytosis, other mechanisms exist that cause thrombosis, and more patients with a latent form of MPD are likely to exist. Future studies will have to elucidate how to treat these patients.
Strobbe
Leonie
L
Department of Internal Medicine, Jeroen Bosch Hospital, 5200 ME, 's-Hertogenbosch, The Netherlands. leoniestrobbe@hotmail.com
Lestrade
Peter
P
Hermans
Mirjam H A
MH
Fijnheer
Rob
R
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003430:Cross-Sectional Studies; D005260:Female; D006454:Hemoglobins; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics; D011086:Polycythemia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D013922:Thrombocytosis / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics*
D006454:Hemoglobins; C507924:JAK2 protein, human; D053614:Janus Kinase 2