The chronic myeloproliferative disorders and mutation of JAK2: Dameshek's 54 year old speculation comes of age

Best Practice and Research: Clinical Haematology

Volumn 20, Issue 1, 2007, Pages 5-12

  Kaushansky, Kenneth ^a  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

essential thrombocytosis; idiopathic myelofibrosis; JAK2 mutation; myeloproliferative disorders; polycythemia vera

Indexed keywords

BCR ABL PROTEIN; ERYTHROPOIETIN; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; HEMOPOIETIC GROWTH FACTOR; JANUS KINASE 2; JANUS KINASE INHIBITOR; PHENYLALANINE; PROTEIN TYROSINE KINASE; THROMBOPOIETIN; VALINE;

AMINO ACID SUBSTITUTION; CHRONIC DISEASE; CHRONIC MYELOID LEUKEMIA; DIAGNOSTIC VALUE; GENE IDENTIFICATION; GENOTYPE; HEMATOPOIETIC STEM CELL; HUMAN; HYPEREOSINOPHILIC SYNDROME; IDIOPATHIC DISEASE; MAST CELL; MUTATIONAL ANALYSIS; MYELOFIBROSIS; MYELOPROLIFERATIVE DISORDER; ONCOGENE; PHENOTYPE; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SIGNAL TRANSDUCTION; THROMBOCYTHEMIA;

ANIMALS; GENE EXPRESSION REGULATION, LEUKEMIC; HUMANS; JANUS KINASE 2; LEUKEMIA, MYELOID, CHRONIC; MICE; MYELOPROLIFERATIVE DISORDERS; POINT MUTATION; SIGNAL TRANSDUCTION;

EID: 33847176174     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beha.2006.11.005     Document Type: Review

References (46)

1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 6 (1951) 372-375
2. Michiels J.J., De R.H., Berneman Z., et al. The 2001 World Health Organization and updated European clinical and pathological criteria for the diagnosis, classification, and staging of the Philadelphia chromosome-negative chronic myeloproliferative disorders. Seminars in Thrombosis and Hemostasis 32 (2006) 307-340
3. Gotlib J., Cross N.C., and Gilliland D.G. Eosinophilic disorders: molecular pathogenesis, new classification, and modern therapy. Best Practice & Research. Clinical Haematology 19 (2006) 535-569
4. Terreri A., and Pardanani A. Clinical, genetic, and therapeutic insights into systemic mast cell disease. Current Opinion in Hematology 11 (2004) 64
5. Deininger M.W., Goldman J.M., and Melo J.V. The molecular biology of chronic myeloid leukemia. Blood 96 (2000) 3343-3356
6. Longmore G.D. Erythropoietin receptor mutations and Olympic glory. Nature Genetics 4 (1993) 108-110
7. Kralovics R., and Prchal J.T. Genetic heterogeneity of primary familial and congenital polycythemia. American Journal of Hematology 68 (2001) 115-121
8. Ang S.O., Chen H., Hirota K., et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nature Genetics 32 (2002) 614-621
9. Cazzola M., and Skoda R.C. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 95 (2000) 3280-3288
10. Ding J., Komatsu H., Wakita A., et al. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood 103 (2004) 4198-4200
11. D'Andrea A., Fasman G., Wong G., et al. Erythropoietin receptor: cloning strategy and structural features. International Journal of Cell Cloning 8 supplement 1 (1990) 173-180
12. Tsui H.W., Siminovitch K.A., de S.L., et al. Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene. Nature Genetics 4 (1993) 124-129
13. Cocault L., Bouscary D., Le Bousse K.C., et al. Ectopic expression of murine TPO receptor (c-mpl) in mice is pathogenic and induces erythroblastic proliferation. Blood 88 (1996) 1656-1665
14. Onishi M., Mui A.L., Morikawa Y., et al. Identification of an oncogenic form of the thrombopoietin receptor MPL using retrovirus-mediated gene transfer. Blood 88 (1996) 1399-1406
15. Yan X.Q., Lacey D., Hill D., et al. A model of myelofibrosis and osteosclerosis in mice induced by overexpressing thrombopoietin (mpl ligand): reversal of disease by bone marrow transplantation. Blood 88 (1996) 402-409
16. Helgason C.D., Damen J.E., Rosten P., et al. Targeted disruption of SHIP leads to hemopoietic perturbations, lung pathology, and a shortened life span. Genes & Development 12 (1998) 1610-1620
17. Gitler A.D., Kong Y., Choi J.K., et al. Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia. Pediatric Research 55 (2004) 581-584
18. Chan I.T., Kutok J.L., Williams I.R., et al. Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative disease. The Journal of Clinical Investigation 113 (2004) 528-538
19. Chan I.T., and Gilliland D.G. Oncogenic K-ras in mouse models of myeloproliferative disease and acute myeloid leukemia. Cell Cycle 3 (2004) 536-537
20. Prchal J.F., and Axelrad A.A. Letter: Bone-marrow responses in polycythemia vera. The New England Journal of Medicine 290 (1974) 1382
21. Zanjani E.D., Lutton J.D., Hoffman R., et al. Erythroid colony formation by polycythemia vera bone marrow in vitro. Dependence on erythropoietin. The Journal of Clinical Investigation 59 (1977) 841-848
22. Dai C.H., Krantz S.B., Dessypris E.N., et al. Polycythemia vera. II. Hypersensitivity of bone marrow erythroid, granulocyte-macrophage, and megakaryocyte progenitor cells to interleukin-3 and granulocyte-macrophage colony-stimulating factor. Blood 80 (1992) 891-899
23. Dai C.H., Krantz S.B., Koury S.T., et al. Polycythaemia vera. IV. Specific binding of stem cell factor to normal and polycythaemia vera highly purified erythroid progenitor cells. British Journal of Haematology 88 (1994) 497-505
24. Correa P.N., Eskinazi D., and Axelrad A.A. Circulating erythroid progenitors in polycythemia vera are hypersensitive to insulin-like growth factor-1 in vitro: studies in an improved serum-free medium. Blood 83 (1994) 99-112
25. Axelrad A.A., Eskinazi D., Correa P.N., et al. Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombocythemia. Blood 96 (2000) 3310-3321
26. Wilks A.F. Two putative protein-tyrosine kinases identified by application of the polymerase chain reaction. Proceedings of the National Academy of Sciences of the USA 86 (1989) 1603-1607
27. Velazquez L., Fellous M., Stark G.R., et al. A protein tyrosine kinase in the interferon alpha/beta signaling pathway. Cell 70 (1992) 313-322
28. Ihle J.N. Cytokine receptor signalling. Nature 377 (1995) 591-594
29. Berchtold S., Moriggl R., Gouilleux F., et al. Cytokine receptor-independent, constitutively active variants of STAT5. The Journal of Biological Chemistry 272 (1997) 30237-30243
30. Roder S., Steimle C., Meinhardt G., et al. STAT3 is constitutively active in some patients with Polycythemia rubra vera. Experimental Hematology 29 (2001) 694-702
31. Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365 (2005) 1054-1061
32. Levine R.L., 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 7 (2005) 387-397
33. James C., Ugo V., Le Couedic J.P., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434 (2005) 1144-1148
34. Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. The New England Journal of Medicine 352 (2005) 1779-1790
35. Kralovics R., Teo S.S., Buser A.S., et al. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood 106 (2005) 3374-3376
36. Scott L.M., Campbell P.J., Baxter E.J., et al. The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood 106 (2005) 2920-2921
37. Nelson M.E., and Steensma D.P. JAK2 V617F in myeloid disorders: what do we know now, and where are we headed?. Leukemia & Lymphoma 47 (2006) 177-194
38. Saharinen P., Vihinen M., and Silvennoinen O. Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain. Molecular Biology of the Cell 14 (2003) 1448-1459
39. Lindauer K., Loerting T., Liedl K.R., et al. Prediction of the structure of human Janus kinase 2 (JAK2) comprising the two carboxy-terminal domains reveals a mechanism for autoregulation. Protein Engineering 14 (2001) 27-37
40. Lu X., Levine R., Tong W., et al. Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation. Proceedings of the National Academy of Sciences of the USA 102 (2005) 18962-18967
41. Jones A.V., Kreil S., Zoi K., et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106 (2005) 2162-2168
42. Goerttler P.S., Steimle C., Marz E., et al. The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients. Blood 106 (2005) 2862-2864
43. Steensma D.P., Dewald G.W., Lasho T.L., et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 106 (2005) 1207-1209
44. Lacout C., Pisani D.F., Tulliez M., et al. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood 108 (2006) 1652-1660
45. Wagner-Ballon O., Chagraoui H., Prina E., et al. Monocyte/macrophage dysfunctions do not impair the promotion of myelofibrosis by high levels of thrombopoietin. Journal of Immunology 176 (2006) 6425-6433
46. Michiels J.J., Bernema Z., Van B.D., et al. Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF). Pathologie-biologie (2006 Aug 17) [Epub ahead of print]