Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders

Hematology

Volumn 14, Issue 6, 2009, Pages 323-330

  Basquiera, Ana L ^a   Soria, Néstor W ^b   Ryser, Ricardo ^c   Salguero, Miriam ^d   Moiraghi, Beatriz ^e   Sackmann, Federico ^f   Sturich, Ana G ^a   Borello, Adriana ^a   Berretta, Adriana ^a   Bonafé, Miriam ^b   Barral, José Moreno ^b   Palazzo, Emilio D ^a   García, Juan J ^a  

^a HOSPITAL PRIVADO   (Argentina)

^b UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^c HOSPITAL ESPAÑOL   (Argentina)

^d Velez Sarsfield Clinic   (Argentina)

^e HOSPITAL RAMOS MEJÍA   (Argentina)

^f Fundacion para Combatir La Leucemia   (Argentina)

Author keywords

Acute leukaemia; Disorders; JAK2; Myeloproliferative; Survival; Thrombosis

Indexed keywords

JANUS KINASE 2;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ARTERY THROMBOSIS; ARTICLE; CHRONIC DISEASE; CONTROLLED STUDY; CYTOREDUCTIVE SURGERY; DNA SEQUENCE; FEMALE; GENE MUTATION; HUMAN; LEUKOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; MALIGNANT TRANSFORMATION; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; OCCLUSIVE CEREBROVASCULAR DISEASE; PHENOTYPE; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL; THROMBOTIC THROMBOCYTOPENIC PURPURA; VEIN THROMBOSIS;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; AMINO ACID SUBSTITUTION; CHRONIC DISEASE; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYELOPROLIFERATIVE DISORDERS; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; THROMBOSIS;

EID: 71049146658     PISSN: 10245332     EISSN: 16078454     Source Type: Journal    
DOI: 10.1179/102453309X12473408860226     Document Type: Article

References (30)

1. Vardiman JW, Brunning RD, Harris NL. Myelodysplastic/ myeloproliferative diseases: introduction. In: Jaffe ES, Harris NL, Stein H et al. (eds) Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC Press, 2001. World Health Organization Classification of Tumours, 2001; 3: 47-48.
2. Baxter EJ, Scott LM, Campbell PJ et al. Acquired mutations of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-1061.
3. James C, Ugo V, Le Couédic JP et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythemia vera. Nature 2005; 434: 1144-1148. (Pubitemid 40663494)
4. Levine RL, Wadleigh M, Cools J et al. Activating mutation in the tyrosine kinase JAK2 in polycithemia vera, essential thrombocytemia, and metaplasia with myelofibrosis. Cancer Cell 2005; 7: 387-397.
5. Steensma DP, Dewald GW, Lasho TL et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both 'atypical' myeloproliferative disorders and myelodysplastic syndromes. Blood 2005; 106: 1207-1209.
6. Hoffman R, Prchal JT, Samuelson S, Ciurea SO, Rondelli D. Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment. Biol Blood Marrow Transplant 2007; 13: 64-72.
7. Tefferi A, Elliott M. Thrombosis in myeloproliferative disorders: prevalence, prognostic factors, and the role of leukocytes and JAK2V617F. Semin Thromb Hemost 2007; 33: 313-320.
8. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100: 2292-2302.
9. Hermouet S, Dobo I, Lippert E et al. Comparison of whole blood vs purified blood granulocytes for the detection and quantitation of JAK2(V617F). Leukemia 2007; 21: 1128-1130.
10. Harrison CN, Campbell PJ, Buck G et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. New Engl J Med 2005; 353: 33-45.
11. Landolfi R, Di Gennaro L, Barbui T et al. Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera. Blood 2007; 109: 2446-2452.
12. Thiele J, Kvasnicka HM, Diehl V. Initial (latent) polycythemia vera with thrombocytosis mimicking essential thrombocythemia. Acta Hematol 2005; 113: 213-219.
13. Wolanskyj AP, Lasho TL, Schwager SM et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005; 131; 208-213.
14. Antonioli E, Guglielmelli P, Pancrazzi A et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 2005; 19: 1847-1849.
15. Basquiera AL, Fassetta F, Soria N, Barral JM, Ricchi B, García JJ. Accuracy of leukocyte alkaline phosphatase score to predict JAK2 V617F mutation. Haematologica 2007; 92: 704-705.
16. Finazzi G, Rambaldi A, Guerini V, Carobbo A, BarbuiT. Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. Haematologica 2007; 92: 135-136. (Pubitemid 46232672)
17. Tefferi A, Lasho TL, Schwager SM et al. The JAK2 (V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol 2005; 131: 320-328. (Pubitemid 43899664)
18. Heller PG, Lev PR, Salim JP et al. JAK2V617F mutation in platelets from essential thrombocythemia patients: correlation with clinical features and analysis of STAT5 phosphorylation status. Eur J Haematol 2006; 77: 210-216.
19. 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: 244-245.
20. Landolfi R, Marchioli R, Kutti J et al. Efficacy and safety of lowdose aspirin in polycythemia vera. New Engl J Med 2004; 350: 114-124. (Pubitemid 38056222)
21. Bellucci S, Michiels JJ. The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive platelets, activated leukocytes, and endothelial cells in the etiology of thrombotic manifestations in polycythemia vera and essential thrombocythemia. Semin Thromb Hemost 2006; 32: 381-398.
22. Robertson B, Urquhart C, Ford I et al. Platelet and coagulation activation markers in myeloproliferative diseases: relationships with JAK2 V6I7 F status, clonality, and antiphospholipid antibodies. J Thromb Haemost 2007; 5: 1679-1685.
23. Rossi D, Deambrogi C, Capello D et al. JAK2 V617F mutation in leukaemic transformation of Philadelphia-negative chronic myeloproliferative disorders. Br J Haematol 2006; 15: 264-275.
24. Werning G, Mercher T, Okabe R, Levine RL, Lee BH, Gililland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006; 107: 4274-4281.
25. Lacout C, Pisani DF, Tulliez M, Gachelin FM, Vainchenker W, Villeval JL. JAK2V617F expression in murine hematopoietic cells leads to CMD mimicking human PV with secondary myelofibrosis. Blood 2006; 108: 1652-1660.
26. Zhang SJ, Li JY, Song JH, XU W, Qiu HX. The investigation of JAK2 mutation in Chinese myeloproliferative diseases-identification of a novel C616Y point mutation in a PV patient. Int Jnl Lab Hem 2007; 29: 71-72.
27. Colaizzo D, Amitrano L, Tiscia GL, Grandone E, Guardascione MA, Margaglione M. A new JAK2 gene mutation in patients with polycythemia vera and splanchnic vein thrombosis. Blood 2007; 110: 2768-2769.
28. Schnittger S, Bacher U, Kern W, Schröder M, Haferlach T, Schoch C. Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E. Leukemia 2006; 20: 2195-2197.
29. Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 2007; 21: 1960-1963.
30. Scott LM, Beer PA, Bench AJ, Erber WN, Green AR. Prevalence of JAK2 V617F and exon 12 mutations in polycythaemia vera. Br J Haematol 2007; 139: 511-512.