Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disorders

Journal of Thrombosis and Haemostasis

Volumn 5, Issue 4, 2007, Pages 708-714

  De Stefano, Valerio ^a   Fiorini, A ^a   Rossi, E ^a   Za, T ^a   Farina, G ^a   Chiusolo, P ^a   Sica, S ^a   Leone, G ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Cerebral vein thrombosis; Chronic myeloproliferative disorders; Hepatic vein thrombosis; JAK2 V617F mutation; Portal vein thrombosis

Indexed keywords

JANUS KINASE 2; PHENYLALANINE; VALINE;

ADULT; AGED; ARTICLE; BRAIN VEIN; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; INCIDENCE; LIVER VEIN THROMBOSIS; MAJOR CLINICAL STUDY; MALE; MESENTERIC VEIN THROMBOSIS; MYELOPROLIFERATIVE DISORDER; PORTAL VEIN THROMBOSIS; PRIORITY JOURNAL; SPLANCHNIC BLOOD FLOW; THROMBOPHILIA; VEIN THROMBOSIS;

ADULT; AGED; AGED, 80 AND OVER; CEREBRAL VEINS; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYCYTHEMIA VERA; SPLANCHNIC CIRCULATION; THROMBOCYTHEMIA, HEMORRHAGIC; VENOUS THROMBOSIS;

EID: 34147156839     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2007.02424.x     Document Type: Article

References (42)

1. Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol 2004; 128: 275-90.
2. Gruppo Italiano Studio Policitemia. Polycythemia vera: The natural history of 1213 patients followed for 20 years. Ann Intern Med 1995; 123: 656-64.
3. Barbui T, Barosi G, Grossi A, Gugliotta L, Liberato LN, Marchetti M, Mazzucconi MG, Rodeghiero F, Tura S. Practice guidelines for the therapy of essential thrombocythemia. A statement from the Italian Society of Hematology, the Italian Society of Experimental Hematology and the Italian Group for Bone Marrow Transplantation. Haematologica 2004; 89: 215-32.
4. Anger BR, Seifried E, Scheppach J, Heimpel H. Budd-Chiari syndrome and thrombosis of other abdominal vessels in the chronic myeloproliferative diseases. Klin Wochenschr 1989; 67: 818-25.
5. Bazzan M, Tamponi G, Schinco P, Vaccarino A, Foli C, Gallone G, Pileri A. Thrombosis-free survival and life expectancy in 187 consecutive patients with essential thrombocythemia. Ann Hematol 1999; 78: 539-43.
6. De Stefano V, Teofili L, Leone G, Michiels JJ. Spontaneous erythroid colony formation as the clue to an underlying myeloproliferative disorder in patients with Budd-Chiari syndrome or portal vein thrombosis. Semin Thromb Hemost 1997; 23: 411-8.
7. Denninger MH, Chait Y, Casadevall N, Hillaire S, Guillin MC, Bezeaud A, Erlinger S, Briere J, Valla D. Cause of portal or hepatic venous thrombosis in adults: The role of multiple concurrent factors. Hepatology 2000; 31: 587-91.
8. Janssen HL, Meinardi JR, Vleggaar FP, van Uum SH, Haagsma EB, van der Meer FJ, van Hattum J, Chamuleau RA, Adang RP, Vandenbroucke JP, van Hoek B, Rosendaal FR. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: Results of a case-control study. Blood 2000; 96: 2364-8.
9. Janssen HL, Wijnhoud A, Haagsma EB, van Uum SH, van Nieuwkerk CM, Adang RP, Chamuleau RA, van Hattum J, Vleggaar FP, Hansen BE, Rosendaal FR, van Hoek B. Extrahepatic portal vein thrombosis: Aetiology and determinants of survival. Gut 2001; 49: 720-4.
10. Primignani M, Martinelli I, Bucciarelli P, Battaglioli T, Reati R, Fabris F, Dell'Era A, Pappalardo E, Mannucci PM. Risk factors for thrombophilia in extrahepatic portal vein obstruction. Hepatology 2005; 41: 603-8.
11. Chait Y, Condat B, Cazals-Hatem D, Rufat P, Atmani S, Chaoui D, Guilmin F, Kiladjian JJ, Plessier A, Denninger MH, Casadevall N, Valla D, Briere JB. Relevance of the criteria commonly used to diagnose myeloproliferative disorder in patients with splanchnic vein thrombosis. Br J Haematol 2005; 129: 553-60.
12. Brière JB. Budd-Chiari syndrome and portal vein thrombosis associated with myeloproliferative disorders: Diagnosis and management. Semin Thromb Hemost 2006; 32: 208-18.
13. Stam J. Thrombosis of the cerebral veins and sinuses. N Engl J Med 2005; 352: 1791-8.
14. Valla D, Casadevall N, Lacombe C, Varet B, Goldwasser E, Franco D, Maillard JN, Pariente EA, Leporrier M, Rueff B, Muller O, Benhamou JP. Primary myeloproliferative disorder and hepatic vein thrombosis. A prospective study of erythroid colony formation in vitro in 20 patients with Budd-Chiari syndrome. Ann Intern Med 1985; 103: 329-34.
15. Valla D, Casadevall N, Huisse MG, Tulliez M, Grange JD, Muller O, Binda T, Varet B, Rueff B, Benhamou JP. Etiology of portal vein thrombosis in adults. A prospective evaluation of primary myeloproliferative disorders. Gastroenterology 1988; 94: 1063-9.
16. Spivak JL. Polycythemia vera: Myths, mechanisms, and management. Blood 2002; 100: 4272-90.
17. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR. Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-61.
18. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C, Garcon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144-8.
19. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-90.
20. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 7: 387-97.
21. Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz SB, Zhao ZJ. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 2005; 280: 22788-92.
22. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 106: 2162-8.
23. Wolanskyj AP, Lasho TL, Schwager SM, McClure RF, Wadleigh M, Lee SJ, Gilliland DG, Tefferi A. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005; 131: 208-13.
24. Antonioli E, Guglielmelli P, Pancrazzi A, Bogani C, Verrucci M, Ponziani V, Longo G, Bosi A, Vannucchi AM. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 2005; 19: 1847-9.
25. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, Duffy A, Boyd EM, Bench AJ, Scott MA, Vassiliou GS, Milligan DW, Smith SR, Erber WN, Bareford D, Wilkins BS, Reilly JT, Harrison CN, Green AR, United Kingdom Myeloproliferative Disorders Study Group. Medical Research Council Adult Leukaemia Working Party; Australasian Leukaemia and Lymphoma Group. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: A prospective study. Lancet 2005; 366: 1945-53.
26. Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R, Li CY, Wadleigh M, Lee SJ, Gilliland DG. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 2006; 106: 631-5.
27. Cheung B, Radia D, Pantelidis P, Yadegarfar G, Harrison C. The presence of the JAK2 V617F mutation is associated with a higher haemoglobin and increased risk of thrombosis in essential thrombocythaemia. Br J Haematol 2006; 132: 244-5.
28. Goerttler PS, Steimle C, Marz E, Johansson PL, Andreasson B, Griesshammer M, Gisslinger H, Heimpel H, Pahl HL. The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients. Blood 2005; 106: 2862-4.
29. Xu X, Zhang Q, Luo J, Xing S, Li Q, Krantz SB, Fu X, Zhao ZJ. JAK2V617F: prevalence in a large Chinese hospital population. Blood 2007; 109: 339-42
30. Campbell PJ, Green AR. The myeloproliferative disorders. N Eng J Med 2006; 355: 2452-66.
31. Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gaken J, Wendon J, Heaton ND, Mufti GJ. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology 2006; 130: 2031-8
32. Primignani M, Barosi G, Bergamaschi G, Gianelli U, Fabris F, Reati R, Dell'Era A, Bucciarelli P, Mannucci PM. Role of the JAK2V617F mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology 2006; 44: 1528-34.
33. 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.
34. Murphy S. Diagnostic criteria and prognosis in polycythemia vera and essential thrombocythemia. Semin Hematol 1999; 36 (Suppl. 2): 9-13.
35. Pearson TC, Messinezy M, Westwood N, Green AR, Bench AJ, Green AR, Huntly BJ, Nacheva EP, Barbui T, Finazzi G. A polycythemia vera update: diagnosis, pathobiology, and treatment. Hematology (Am Soc Hematol Educ Program) 2000; 51-68.
36. De Stefano V, Rossi E, Paciaroni K, Leone G. Screening for inherited thrombophilia: Indications and therapeutic implications. Haematologica 2002; 87: 1095-108.
37. De Stefano V, Zappacosta B, Persichilli S, Rossi E, Casorelli I, Paciaroni K, Chiusolo P, Leone AM, Giardina B, Leone G. Prevalence of mild hyperhomocysteinaemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease. Br J Haematol 1999; 106: 564-8.
38. Stuart BJ, Viera AJ. Polycythemia vera. Am Fam Physician 2004; 69: 2139-44.
39. Lamy T, Devillers A, Bernard M, Moisan A, Grulois I, Drenou B, Amiot L, Fauchet R, Le Prise PY. Inapparent polycythemia vera: An unrecognized diagnosis. Am J Med 1997; 102: 14-20.
40. Martinelli I, Battaglioli T, Pedotti P, Cattaneo M, Mannucci PM. Hyperhomocysteinemia in cerebral vein thrombosis. Blood 2003; 102: 1363-6.
41. Arellano-Rodrigo E, Alvarez-Larràn A, Reverter JC, Villamor N, Colomer D, Cervantes F. Increased platelet and leukocyte activation as contributing mechanisms for thrombosis in essential thrombocythemia and correlation with the JAK2 mutational status. Haematologica 2006; 91: 169-75.
42. Lang R, Inbal A, Jutrin I, Ravid M. Recurrent venous thrombosis: The sole manifestation of an occult myeloproliferative disease. Isr J Med Sci 1982; 18: 705-7.