What is the role of JAK2V617F mutation in leukemic transformation of myeloproliferative neoplasms?

Laboratory Hematology

Volumn 17, Issue 1, 2011, Pages 12-16

  Da Silva, Rodrigo Lopes ^a   Ribeiro, Patricia ^a   Lourenço, Alexandra ^a   Santos, Susana Costa ^a   Santos, Margarida ^a   Costa, Isabel ^a   De Sousa, Aida Botelho ^a  

^a HOSPITAL DE SANTO ANTÓNIO DOS CAPUCHOS   (Portugal)

Author keywords

Essential thrombocythemia; JAK2V617F mutation; Leukemic transformation; Myeloproliferative neoplasms; Polycythemia vera; Primary myelofibrosis

Indexed keywords

HYDROXYUREA;

ACUTE LEUKEMIA; ADULT; AGED; ARTICLE; BONE MARROW BIOPSY; CANCER RECURRENCE; CAUSE OF DEATH; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; JAK2 V617F GENE; MALE; MALIGNANT TRANSFORMATION; MUTATIONAL ANALYSIS; MUTATOR GENE; MYELOID METAPLASIA; POLYCYTHEMIA VERA; THROMBOCYTHEMIA;

AGED; CELL TRANSFORMATION, NEOPLASTIC; CODON; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; MYELOPROLIFERATIVE DISORDERS; TREATMENT OUTCOME;

EID: 79953208053     PISSN: 10802924     EISSN: None     Source Type: Journal    
DOI: 10.1532/LH96.10018     Document Type: Article

References (38)

1. Swerdlow SH, Campo E, Harris NL, et al, eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue (IARC WHO Classification of Tumours). 4th ed. Geneva, Switzerland: WHO Press; 2008:31-64.
2. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061. (Pubitemid 40386783)
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. (Pubitemid 40544655)
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. (Pubitemid 40570926)
5. James C, Ugo V, Le Couédic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148. (Pubitemid 40663494)
6. Finazzi G, Caruso V, Marchioli R, et al. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood. 2005;105:2664-2670. (Pubitemid 40446255)
7. Marchioli R, Finazzi G, Landolfi R, et al. Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol. 2005;23:2224-2232. (Pubitemid 46218714)
8. Mesa RA, Li CY, Ketterling RP, Schroeder GS, Knudson RA, Tefferi A. Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood. 2005;105:973-977. (Pubitemid 40170863)
9. Shibata K, Shinamamoto Y, Suga K, Sano M, Matsuzaki M, Yamaguchi M. Essential thrombocythemia terminating in acute leukemia with minimal myeloid differentiation: a brief review of recent literature. Acta Haematol. 1994;91:84-88. (Pubitemid 24192797)
10. Radaelli F, Mazza R, Curioni E, Ciani A, Pomati M, Maiolo AT. Acute megakaryocytic leukemia in essential thrombocythemia: an unusual evolution? Eur J Haematol. 2002;69:108-111. (Pubitemid 35178111)
11. Theocharides A, Boissinot M, Girodon F, et al. Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood. 2007;110:375-379. (Pubitemid 47026857)
12. Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. World Health Organization Classification of Tumours. Pathology and Genetics: Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2001.
13. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008;22:14-22.
14. Cox RA. The use of guanidinium chloride in the isolation of nucleic acids. Methods Enzymol. 1968;12B:120-129.
15. Ausbel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Struhl K. Current Protocols in Molecular Biology. Vol. 2, Part B. New York, NY: John Wiley & Sons; 1990:a.1.5.
16. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162-2168. (Pubitemid 41291734)
17. Melo JV, Barnes DJ. Chronic myeloid leukaemia as a model of disease evolution in human cancer. Nat Rev Cancer. 2007;7:441-453. (Pubitemid 46823444)
18. Radich JP. The biology of CML blast crisis. Hematology Am Soc Hematol Educ Program. 2007:384-391.
19. Tefferi A. JAK and MPL mutations in myeloid malignancies. Leuk Lymphoma. 2008;49:388-397. (Pubitemid 351298324)
20. Vannucchi AM, Antonioli E, Guglielmelli P, Pardanni A, Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia. 2008;22:1299-1307.
21. Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22:1813-1817.
22. Kota J, Caceres N, Constantinescu SN. Aberrant signal transduction pathways in myeloproliferative neoplasms. Leukemia. 2008;22:1828-1840.
23. Kralovics R. Genetic complexity of myeloproliferative neoplasms. Leukemia. 2008;22:1841-1848.
24. Levine RL. Mechanisms of mutations in myeloproliferative neoplasms. Best Pract Res Clin Haematol. 2009;22:489-494.
25. Rossi D, Deambrogi C, Capello D, et al. JAK2 V617F mutation in leukaemic transformation of Philadelphia-negative chronic myeloproliferative disorders. Br J Haematol. 2006;135:267-268. (Pubitemid 44401627)
26. Beer PA, Delhommeau F, Le Couédic JP, et al. Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood. 2010;115:2891-2900.
27. Thoennissen NH, Krug UO, Lee DH, et al. Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome-negative myeloproliferative neoplasms. Blood. 2010;115:2882-2890.
28. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010;24:1128-1138.
29. Delhommeau F, Jeziorowska D, Marzac C, Casadevall N. Molecular aspects of myeloproliferative neoplasms. Int J Hematol. 2010;91:165-173.
30. Jäger R, Kralovics R. Molecular basis and clonal evolution of myeloproliferative neoplasms. Haematologica. 2010;95:526-529.
31. Abdel-Wahab O, Manshouri T, Patel J, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res. 2010;70:447-452.
32. Funakoshi-Tago M, Tago K, Abe M, Sonoda Y, Kasahara T. STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant. J Biol Chem. 2010;285:5296-5307.
33. Plo I, Vainchenker W. Molecular and genetic bases of myeloproliferative disorders: questions and perspectives. Clin Lymphoma Myeloma. 2009;9(suppl 3):S329-S339.
34. Verstovsek S, Kantarjian H, Mesa RA, et al. Safety and efficacy of INCB018424, a JAK1 and JAK2 inhibitor, in myelofibrosis. N Engl J Med. 2010;363:1117-1127.
35. Santos FP, Kantarjian HM, Jain N, et al. Phase 2 study of CEP- 701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. Blood. 2010;115:1131-1136.
36. Lucia E, Recchia AG, Gentile M, et al. Janus kinase 2 inhibitors in myeloproliferative disorders. Expert Opin Investig Drugs. 2011;20:41-59.
37. Santos FP, Verstovsek S. JAK2 inhibitors: what's the true therapeutic potential? Blood Rev. 2011;25:53-63.
38. Agrawal M, Garg RJ, Cortes J, et al. Experimental therapeutics for patients with myeloproliferative neoplasias. Cancer. 2011;117:662-676.