Mutation of JAK2 in the myeloproliferative disorders: Timing, clonality studies, cytogenetic associations, and role in leukemic transformation

Blood

Volumn 108, Issue 10, 2006, Pages 3548-3555

  Campbell, Peter J ^b   Baxter, E Joanna ^b   Beer, Philip A ^b   Scott, Linda M ^b   Bench, Anthony J ^b   Huntly, Brian J P ^b   Erber, Wendy N ^b   Kusec, Rajko ^b   Larsen, Thomas Stauffer ^b   Giraudier, Stéphane ^b   Le Bousse Kerdilès, Marie Caroline ^b   Griesshammer, Martin ^b   Reilly, John T ^b   Cheung, Betty Y ^b   Harrison, Claire N ^b   Green, Anthony R ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

ARTICLE; CHROMOSOME 20Q; CHROMOSOME DELETION; CONTROLLED STUDY; CYTOGENETICS; DISEASE COURSE; GENE MUTATION; GRANULOCYTE; HUMAN; HUMAN CELL; LEUKEMIA; MYELOPROLIFERATIVE DISORDER; PATHOGENESIS; PRIORITY JOURNAL; T LYMPHOCYTE; THROMBOCYTOPENIA; X CHROMOSOME;

EID: 33749434271     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-12-013748     Document Type: Article

References (38)

1. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061.
2. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148.
3. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-397.
4. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790.
5. Kaushansky K. On the molecular origins of the chronic myeloproliferative disorders: it all makes sense. Blood. 2005;105:4187-4190.
6. Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005;280:22788-22792.
7. Scott LM, Campbell PJ, Baxter EJ, et al. The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood. 2005;106:2920-2921.
8. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162-2168.
9. 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.
10. Jelinek J, Oki Y, Gharibyan V, et al. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood. 2005;106:3370-3373.
11. Harrison CN, Campbell PJ, Buck G, et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med. 2005;353:33-45.
12. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005;366:1945-1953.
13. Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia. 2005;19:1847-1849.
14. 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.
15. Cario H, Goerttler PS, Steimle C, Levine RL, Pahl HL. The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera. Br J Haematol. 2005;130:800-801.
16. Bench AJ, Nacheva EP, Champion KM, Green AR. Molecular genetics and cytogenetics of myeloproliferative disorders. Baillieres Clin Haematol. 1998;11:819-848.
17. Campbell PJ, Griesshammer M, Dohner K, et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood. 2006;107:2098-2100.
18. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood. 2002;100:4272-4290.
19. Bousquet M, Quelen C, De Mas V, et al. The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene. Oncogene. 2005;24:7248-7252.
20. Bench AJ, Nacheva EP, Hood TL, et al. Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG). Oncogene. 2000;19:3902-3913.
21. Asimakopoulos FA, Holloway TL, Nacheva EP, Scott MA, Fenaux P, Green AR. Detection of chromosome 20q deletions in bone marrow metaphases but not peripheral blood granulocytes in patients with myeloproliferative disorders or myelodysplastic syndromes. Blood. 1996;87:1561-1570.
22. Mori N, Morosetti R, Lee S, et al. Allelotype analysis in the evolution of chronic myelocytic leukemia. Blood. 1997;90:2010-2014.
23. Karasawa M, Tsukamoto N, Yamane A, et al. Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay. Int J Hematol. 2001;74:281-286.
24. Champion KM, Gilbert JG, Asimakopoulos FA, Hinshelwood S, Green AR. Clonal haemopoiesis in normal elderly women: implications for the myeloproliferative disorders and myelodysplastic syndromes. Br J Haematol. 1997;97:920-926.
25. + cell fractions in myeloproliferative disorders with homozygous JAK2(V617F) in granulocytes. Br J Haematol. 2005;130:797-799.
26. 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.
27. V617F mutation in polycythemia vera. Blood. In press. Published ahead of print on June 6, 2006; DOI: 10.1182/blood-2006-04- 017392.
28. Manly BFJ. Randomization, Bootstrap and Monte Carlo Methods in Biology, ed 2. London, United Kingdom: Chapman and Hall; 1997.
29. Gale RE, Fielding AK, Harrison CN, Linch DC. Acquired skewing of X-chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age. Br J Haematol. 1997;98:512-519.
30. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30:229-236.
31. Tefferi A, Lasho TL, Gilliland G. JAK2 mutations in myeloproliferative disorders. N Engl J Med. 2005;353:1416-1417.
32. Gale RE, Wheadon H, Boulos P, Linch DC. Tissue specificity of X-chromosome inactivation patterns. Blood. 1994;83:2899-2905.
33. Prchal JT, Prchal JF, Belickova M, et al. Clonal stability of blood cell lineages indicated by X-chromosomal transcriptional polymorphism. J Exp Med. 1996;183:561-567.
34. Abkowitz JL, Taboada M, Shelton GH, Catlin SN, Guttorp P, Kiklevich JV. An X chromosome gene regulates hematopoietic stem cell kinetics. Proc Natl Acad Sci U S A. 1998;95:3862-3866.
35. Asimakopoulos FA, Gilbert JG, Aldred MA, Pearson TC, Green AR. Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera. Blood. 1996;88:2690-2698.
36. el-Kassar N, Hetet G, Briere J, Grandchamp B. Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets. Blood. 1997;89:128-134.
37. de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, Tabak D, Abdelhay E. Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia. Leuk Res. 2000;24:839-848.
38. Halsey C, Roberts IA. The role of hydroxyurea in sickle cell disease. Br J Haematol. 2003;120:177-186.