The JAK2 V617F tyrosine kinase mutation in myeloproliferative disorders: Summary of published literature and a perspective

Current Hematologic Malignancy Reports

Volumn 1, Issue 2, 2006, Pages 75-80

  Wadleigh, Martha ^a   Gilliland, D Gary ^b  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

CELL LINE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HYPERSENSITIVITY; MEDICAL LITERATURE; MYELOPROLIFERATIVE DISORDER; POLYCYTHEMIA VERA; REVIEW; THROMBOCYTOPENIA;

AMINO ACID SUBSTITUTION; ANIMALS; CATALYSIS; CELL LINEAGE; CLONE CELLS; ENZYME ACTIVATION; HUMANS; JANUS KINASE 2; MICE; MUTATION, MISSENSE; MYELOID CELLS; MYELOPROLIFERATIVE DISORDERS; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION; SIGNAL TRANSDUCTION;

EID: 33750330029     PISSN: 15588211     EISSN: 1558822X     Source Type: Journal    
DOI: 10.1007/s11899-006-0026-3     Document Type: Review

References (60)

1. Nowell PC, Hungerford DA: Chromosome studies on normal and leukemic human leukocytes. J Natl Cancer Inst 1960, 25:85-109.
2. Golub TR, Barker GF, Lovett M, Gilliland DG: Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 1994, 77:307-316.
3. Cools J, DeAngelo DJ, Gotlib J, et al.: A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 2003, 348:1201-1214.
4. Pardanani A, Ketterling RP, Brockman SR, et al.: CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood 2003, 102:3093-3096.
5. V617F mutation in PV, ET, and IMF. Each group had a different approach, but all came up with the same mutation.
6. V617F mutation.
7. V617F mutation in polycythemia vera.
8. V617F mutation in polycythemia vera.
9. V617F mutation in MPDs.
10. Adamson JW, Fialkow PJ, Murphy S, et al.: Polycythemia vera: stem-cell and probable clonal origin of the disease. N Engl J Med 1976, 295:913-916.
11. 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.
12. Harrison CN, Gale RE, Machin SJ, Linch DC: A large proportion of patients with a diagnosis of essential thrombocythemia do not have a clonal disorder and may be at lower risk of thrombotic complications. Blood 1999, 93:417-424.
13. Shih LY, Lin TL, Lai CL, et al.: Predictive values of X-chromosome inactivation patterns and clinicohematologic parameters for vascular complications in female patients with essential thrombocythemia. Blood 2002, 100:1596-1601.
14. Prchal JF, Axelrad AA: Bone-marrow responses in polycythemia vera [letter]. N Engl J Med 1974, 290:1382.
15. Griesshammer M, Klippel S, Strunck E, et al.: PRV-1 mRNA expression discriminates two types of essential thrombocythemia. Ann Hematol 2004, 83:364-370.
16. Kralovics R, Buser AS, Teo SS, et al.: Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders. Blood 2003, 102:1869-1871.
17. Zanjani ED, Lutton JD, Hoffman R, Wasserman LR: Erythroid colony formation by polycythemia vera bone marrow in vitro. Dependence on erythropoietin. J Clin Invest 1977, 59:841-848.
18. Dai CH, Krantz SB, Means RT Jr, et al.: Polycythemia vera blood burst-forming units-erythroid are hypersensitive to interleukin-3. J Clin Invest 1991, 87:391-396.
19. Axelrad AA, Eskinazi D, Correa PN, Amato D: Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombocythemia. Blood 2000, 96:3310-3321.
20. Giraudier S, Chagraoui H, Komura E, et al.: Overexpression of FKBP51 in idiopathic myelofibrosis regulates the growth factor independence of megakaryocyte progenitors. Blood 2002, 100:2932-2940.
21. Dai CH, Krantz SB, Koury ST, Kollar K: Polycythaemia vera. IV. Specific binding of stem cell factor to normal and polycythaemia vera highly purified erythroid progenitor cells. Br J Haematol 1994, 88:497-505.
22. Correa PN, Eskinazi D, Axelrad AA: Circulating erythroid progenitors in polycythemia vera are hypersensitive to insulin-like growth factor-1 in vitro: studies in an improved serum-free medium. Blood 1994, 83:99-112.
23. Levy DE, Darnell JE Jr: Stats: transcriptional control and biological impact [review]. Nat Rev Mol Cell Biol 2002, 3:651-662.
24. Benekli M, Baer MR, Baumann H, Wetzler M: Signal transducer and activator of transcription proteins in leukemias. Blood 2003, 101:2940-2954.
25. Yeh TC, Pellegrini S: The Janus kinase family of protein tyrosine kinases and their role in signaling. Cell Mol Life Sci 1999, 55:1523-1534.
26. Rane SG, Reddy EP: JAKs, STATs and Src kinases in hematopoiesis. Oncogene 2002, 21:3334-3358.
27. Rane SG, Reddy EP: Janus kinases: components of multiple signaling pathways. Oncogene 2000, 19:5662-5679.
28. Carter-Su C, Smit LS: Signaling via JAK tyrosine kinases: growth hormone receptor as a model system. Recent Prog Horm Res 1998, 53:61-82; discussion 82-83.
29. Ugo V, Marzac C, Teyssandier I, et al.: Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera. Exp Hematol 2004, 32:179-187.
30. Longmore GD: Erythropoietin receptor mutations and Olympic glory. Nat Genet 1993, 4:108-110.
31. Parganas E, Wang D, Stravopodis D, et al.: Jak2 is essential for signaling through a variety of cytokine receptors. Cell 1998, 93:385-395.
32. Krempler A, Qi Y, Triplett AA, et al.: Generation of a conditional knockout allele for the Janus kinase 2 (Jak2) gene in mice. Genesis 2004, 40:52-57.
33. Klingmuller U, Lorenz U, Cantley LC, et al.: Specific recruitment of SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals. Cell 1995, 80:729-738.
34. Shultz LD, Rajan TV, Greiner DL: Severe defects in immunity and hematopoiesis caused by SHP-1 protein-tyrosine-phosphatase deficiency. Trends Biotechnol 1997, 15:302-307.
35. Komura E, Chagraoui H, Mansat de Mas V, et al.: Spontaneous STAT5 activation induces growth factor independence in idiopathic myelofibrosis: possible relationship with FKBP51 overexpression. Exp Hematol 2003, 31:622-630.
36. Roder S, Steimle C, Meinhardt G, Pahl HL: STAT3 is constitutively active in some patients with polycythemia rubra vera. Exp Hematol 2001, 29:694-702.
37. Lacronique V, Boureux A, Valle VD, et al.: A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science 1997, 278:1309-1312.
38. Peeters P, Raynaud SD, Cools J, et al.: Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. Blood 1997, 90:2535-2540.
39. 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.
40. 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.
41. V617F mutation in the largest group of IMF patients.
42. Tefferi A, Lasho TL, Schwager SM, et al.: The clinical phenotype of wild-type, heterozygous, and homozygous JAK2(V617F) in polycythemia vera. Cancer 2006, 106:631-635.
43. V617F positivity in essential thrombocythemia has phenotypic similarities to polycythemia vera.
44. 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.
45. Lee JW, Kim YG, Soung YH, et al.: The JAK2 V617F mutation in de novo acute myelogenous leukemias. Oncogene 2005 [Epub ahead of print].
46. Jones AV, Kreil S, Zoi K, et al.: Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005, 106:2162-2168.
47. Levine RL, Loriaux M, Huntly BJ, et al.: The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 2005, 106:3377-3379.
48. 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.
49. 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.
50. Johan MF, Goodeve AC, Bowen DT, et al.: JAK2 V617F mutation is uncommon in chronic myelomonocytic leukaemia [letter]. Br J Haematol 2005, 130:968.
51. Ohyashiki K, Aota Y, Akahane D, et al.: The JAK2 V617F tyrosine kinase mutation in myelodysplastic syndromes (MDS) developing myelofibrosis indicates the myeloproliferative nature in a subset of MDS patients. Leukemia 2005, 19:2359-2360.
52. Saharinen P, Silvennoinen O: The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokine-inducible activation of signal transduction. J Biol Chem 2002, 277:47954-47963.
53. Saharinen P, Takaluoma K, Silvennoinen O: Regulation of the Jak2 tyrosine kinase by its pseudokinase domain. Mol Cell Biol 2000, 20:3387-3395.
54. Lindauer K, Loerting T, Liedl KR, Kroemer RT: Prediction of the structure of human Janus kinase 2 (JAK2) comprising the two carboxy-terminal domains reveals a mechanism for autoregulation. Protein Eng 2001, 14:27-37.
55. Levine RL, Belisle C, Wadleigh M, et al.: Clonality analysis and quantitative JAK2V617F assessment reveals an association between clonality and JAK2V617F in PV but not ET/MMM and identifies JAK2V617F negative ET and MMM patients with clonal hematopoiesis. Blood 2006, In press.
56. Lasho TL, Mesa R, Gilliland DG, Tefferi A: Mutation studies in CD3+, CD19+ and CD34+ cell fractions in myeloproliferative disorders with homozygous JAK2(V617F) in granulocytes. Br J Haematol 2005, 130:797-799.
57. Tefferi A, Sirhan S, Lasho TL, et al.: Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol 2005, 131:166-171.
58. Goerttler PS, Steimle C, Marz E, et al.: The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients. Blood 2005, 106:2862-2864.
59. Kralovics R, Teo SS, Buser AS, et al.: Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood 2005, 106:3374-3376.
60. James C, Ugo V, Casadevall N, et al.: A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects. Trends Mol Med 2005, 11:546-554.