Absence of the JAK2 V617F mutation in patients with arterial thrombosis without overt myeloproliferative disease

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 9, 2008, Pages 1606-1607

  Smalberg, J H ^a   De Maat, M P M ^a   Leebeek, F W G ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

ADULT; ARTERY THROMBOSIS; ARTICLE; BLOOD CLOTTING DISORDER; BRAIN ISCHEMIA; CEREBROVASCULAR ACCIDENT; CLINICAL FEATURE; FEMALE; GENE MUTATION; HEART MUSCLE ISCHEMIA; HOSPITAL ADMISSION; HUMAN; MAJOR CLINICAL STUDY; MALE; MYELOPROLIFERATIVE DISORDER; PRIORITY JOURNAL; THROMBOCYTE COUNT; TRANSIENT ISCHEMIC ATTACK;

CASE-CONTROL STUDIES; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; MYELOPROLIFERATIVE DISORDERS; THROMBOSIS;

EID: 49849094428     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03081.x     Document Type: Article

References (15)

1. Ugo V, Le Gal G, Lecucq L, Mottier D, Oger E. Prevalence of the JAK2 V617F mutation is low among unselected patients with a first episode of unprovoked venous thromboembolism. J Thromb Haemost 2008; 6: 203-5.
2. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med 2006; 355: 2452-66.
3. Brunning RD, Flandrin G, Imbert M, Pierre R, Thiele J, Vardiman JW. WHO classification of the chronic myeloproliferative diseases (MPD) polycythemia vera, chronic idiopathic myelofibrosis, essential thrombocythemia and MPD unclassifiable. In: Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. WHO Classification of Tumours. Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues Vol. 3. Lyon: IARC, 2001: 3.
4. Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, Barosi G, Verstovsek S, Birgegard G, Mesa R, Reilly JT, Gisslinger H, Vannucchi AM, Cervantes F, Finazzi G, Hoffman R, Gilliland DG, Bloomfield CD, Vardiman JW. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: Recommendations from an ad hoc international expert panel. Blood 2007; 110: 1092-7.
5. Colaizzo D, Amitrano L, Tiscia GL, Scenna G, Grandone E, Guardascione MA, Brancaccio V, Margaglione M. The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosis. J Thromb Haemost 2007; 5: 55-61.
6. De Stefano V, Fiorini A, Rossi E, Za T, Farina G, Chiusolo P, Sica S, Leone G. Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disorders. J Thromb Haemost 2007; 5: 708-14.
7. Regina S, Herault O, D'Alteroche L, Binet C, Gruel Y. JAK2 V617F is specifically associated with idiopathic splanchnic vein thrombosis. J Thromb Haemost 2007; 5: 859-61.
8. Kiladjian JJ, Cervantes F, Leebeek FW, Marzac C, Cassinat B, Chevret S, Cazals-Hatem D, Plessier A, Garcia-Pagan JC, Darwish Murad S, Raffa S, Janssen HL, Gardin C, Cereja S, Tonetti C, Giraudier S, Condat B, Casadevall N, Fenaux P, Valla DC. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis. A report on 241 cases. Blood 2008; 111: 4922-9.
9. Smalberg JH, Murad SD, Braakman E, Valk PJ, Janssen HL, Leebeek FW. Myeloproliferative disease in the pathogenesis and survival of Budd-Chiari syndrome. Haematologica 2006; 91: 1712-3.
10. De Stefano V, Za T, Rossi E, Vannucchi AM, Ruggeri M, Elli E, Mico C, Tieghi A, Cacciola RR, Santoro C, Gerli G, Vianelli N, Guglielmelli P, Pieri L, Scognamiglio F, Rodeghiero F, Pogliani EM, Finazzi G, Gugliotta L, Marchioli R, et al. Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: Incidence, risk factors, and effect of treatments. Haematologica 2008; 93: 372-80.
11. Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol 2005; 128: 275-90.
12. Leebeek FW, Goor MP, Guimaraes AH, Brouwers GJ, Maat MP, Dippel DW, Rijken DC. High functional levels of thrombin-activatable fibrinolysis inhibitor are associated with an increased risk of first ischemic stroke. J Thromb Haemost 2005; 3: 2211-8.
13. Colaizzo D, Amitrano L, Iannaccone L, Vergura P, Cappucci F, Grandone E, Guardascione MA, Margaglione M. Gain-of-function gene mutations and venous thromboembolism: Distinct roles in different clinical settings. J Med Genet 2007; 44: 412-6.
14. Lauw MN, Bus EB, van Wulfften Palthe AFY, Homburg CH, Coppens M, Middeldorp S, van der Schoot CE, Koene HR. JAK2-V617F is a risk factor for venous thromboembolism. J Thromb Haemost 2007; 5 (Suppl. 2) P-M-565.
15. Remacha AF, Estivill C, Sarda MP, Mateo J, Souto JC, Canals C, Nomdedeu J, Fontcuberta J. The V617F mutation of JAK2 is very uncommon in patients with thrombosis. Haematologica 2007;92: 285-6.