The relationship between factor v Leiden, prothrombin G20210A, and MTHFR mutations and the first major thrombotic episode in polycythemia vera and essential thrombocythemia

Annals of Hematology

Volumn 93, Issue 2, 2014, Pages 203-209

  Trifa, Adrian P ^a   Cucuianu, Andrei ^a,b   Popp, Radu A ^a   Coadă, Camelia A ^a   Costache, Roxana M ^a   Militaru, Mariela S ^a   Vesa, Ştefan C ^a   Pop, Ioan V ^a  

^a IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^b Cancer Institute Ion Chiricuta Cluj Napoca   (Romania)

Author keywords

Essential thrombocythemia; Factor V Leiden; Polycythemia vera; Thrombosis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN; BLOOD CLOTTING FACTOR 5; JAK2 PROTEIN, HUMAN; JANUS KINASE 2; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MTHFR PROTEIN, HUMAN;

ADULT; AGED; ARTERY THROMBOSIS; ARTICLE; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYCYTHEMIA VERA; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; THROMBOCYTHEMIA; VEIN THROMBOSIS; VERY ELDERLY; CLINICAL TRIAL; COMPLICATION; GENETICS; MIDDLE AGED; MISSENSE MUTATION; RETROSPECTIVE STUDY; THROMBOSIS;

ADULT; AGED; AGED, 80 AND OVER; FACTOR V; FEMALE; HUMANS; JANUS KINASE 2; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MUTATION, MISSENSE; POLYCYTHEMIA VERA; PROTHROMBIN; RETROSPECTIVE STUDIES; RISK FACTORS; THROMBOCYTHEMIA, ESSENTIAL; THROMBOSIS;

EID: 84892170213     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-013-1838-6     Document Type: Article

References (25)

1. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L et al (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106:2162-2168
2. Tefferi A, Elliott M (2007) Thrombosis in myeloproliferative disorders: prevalence, prognostic factors, and the role of leukocytes and JAK2V617F. Semin Thromb Hemost 33:313-320
3. Landolfi R, Di Gennaro L, Falanga A (2008) Thrombosis in myeloproliferative disorders: pathogenetic facts and speculation. Leukemia 22:2020-2028
4. Landolfi R, Cipriani MC, Novarese L (2006) Thrombosis and bleeding in polycythemia vera and essential thrombocythemia: pathogenetic mechanisms and prevention. Best Pract Res Clin Haematol 19:617-633
5. Cheung B, Radia D, Pantelidis P, Yadegarfar G, Harrison C (2006) The presence of the JAK2 V617F mutation is associated with a higher haemoglobin and increased risk of thrombosis in essential thrombocythaemia. Br J Haematol 132:244-245
6. Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R et al (2007) Clinical profile of homozygous JAK2 617 V > F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 110:840-846
7. Vannucchi AM, Antonioli E, Guglielmelli P, Longo G, Pancrazzi A, Ponziani V et al (2007) Prospective identification of high-risk polycythemia vera patients based on JAK2(V617F) allele burden. Leukemia 21:1952-1959
8. Finazzi G, Rambaldi A, Guerini V, Carobbo A, Barbui T (2007) Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. Haematologica 92:135-136
9. Marchetti M, Castoldi E, Spronk HM, van Oerle R, Balducci D, Barbui T et al (2008) Thrombin generation and activated protein C resistance in patients with essential thrombocythemia and polycythemia vera. Blood 112:4061-4068
10. Falanga A, Marchetti M, Vignoli A, Balducci D, Russo L, Guerini V et al (2007) V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules. Exp Hematol 35:702-711
11. Bauer KA (2003) Management of thrombophilia. J Thromb Haemost 1:1429-1434
12. Ruggeri M, Gisslinger H, Tosetto A, Rintelen C, Mannhalter C, Pabinger I et al (2002) Factor V Leiden mutation carriership and venous thromboembolism in polycythemia vera and essential thrombocythemia. Am J Hematol 71:1-6
13. Amitrano L, Guardascione MA, Ames PR, Margaglione M, Antinolfi I, Iannaccone L et al (2003) Thrombophilic genotypes, natural anticoagulants, and plasma homocysteine in myeloproliferative disorders relationship with splanchnic vein thrombosis and arterial disease. Am J Hematol 72:75-81
14. Kornblihtt LI, Heller PG, Correa G, Castañón M, Genoud V, Vassallu P et al (2003) Associated thrombophilic defects in essential thrombocythaemia: their relationship with clinical manifestations. Thromb Res 112:131-135
15. Gisslinger H, Müllner M, Pabinger I, Heis-Vahidi-Fard N, Gisslinger B, Brichta A et al (2005) Mutation of the prothrombin gene and thrombotic events in patients with polycythemia vera or essential thrombocythemia: a cohort study. Haematologica 90:408-410
16. De Stefano V, Za T, Rossi E, Fiorini A, Ciminello A, Luzzi C et al (2009) Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. Haematologica 94:733-737
17. Robien K, Ulrich CM (2003) 5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: a HuGE minireview. Am J Epidemiol 157:571-582
18. Tefferi A, Vardiman JW (2008) Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 22:14-22
19. Trifa AP, Cucuianu A, Popp RA (2010) Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2(V617F). Acta Haematol 123:84-87
20. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H et al (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64-67
21. Ferraresi P, Marchetti G, Legnani C, Cavallari E, Castoldi E, Mascoli F et al (1997) The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease. Arterioscler Thromb Vasc Biol 17:2418-2422
22. Trifa AP, Cucuianu A, Popp RA, Costache RM, Coadǎ CA, Sarca AD et al (2013) Analysis of the MTHFR (methylenetetrahydrofolate reductase) 677 C > T and 1298 A > C polymorphisms in BCR-ABL-negative myeloproliferative neoplasms. Int J Lab Hematol 35:e9-12
23. Marchioli R, Finazzi G, Specchia G, Cacciola R, Cavazzina R, Cilloni D et al (2013) Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med 368:22-33
24. Tefferi A, Gangat N, Wolanskyj A (2007) The interaction between leukocytosis and other risk factors for thrombosis in essential thrombocythemia. Blood 109:4105
25. Carobbio A, Thiele J, Passamonti F, Rumi E, Ruggeri M, Rodeghiero F et al (2011) Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients. Blood 117:5857-5859