Best Practice & Research Clinical Haematology
Volume 20, Issue 1 , Pages 5-12 , March 2007

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

  • Kenneth Kaushansky, MD (Professor and Chair)

      Affiliations

    • Corresponding Author InformationTel.: +1 619 543 2259; Fax: +1 619 543 3931.

References 

  1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951;6:372–375
  2. Michiels JJ, De RH, 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. 2006;32:307–340
  3. Gotlib J, Cross NC, Gilliland DG. Eosinophilic disorders: molecular pathogenesis, new classification, and modern therapy. Best Practice & Research. Clinical Haematology. 2006;19:535–569
  4. Terreri A, Pardanani A. Clinical, genetic, and therapeutic insights into systemic mast cell disease. Current Opinion in Hematology. 2004;11:64
  5. Deininger MW, Goldman JM, Melo JV. The molecular biology of chronic myeloid leukemia. Blood. 2000;96:3343–3356
  6. Longmore GD. Erythropoietin receptor mutations and Olympic glory. Nature Genetics. 1993;4:108–110
  7. Kralovics R, Prchal JT. Genetic heterogeneity of primary familial and congenital polycythemia. American Journal of Hematology. 2001;68:115–121
  8. Ang SO, Chen H, Hirota K, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nature Genetics. 2002;32:614–621
  9. Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood. 2000;95:3280–3288
  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. 2004;103:4198–4200
  11. D'Andrea A, Fasman G, Wong G, et al. Erythropoietin receptor: cloning strategy and structural features. International Journal of Cell Cloning. 1990;8(supplement 1):173–180
  12. Tsui HW, Siminovitch KA, de SL, et al. Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene. Nature Genetics. 1993;4:124–129
  13. Cocault L, Bouscary D, Le Bousse KC, et al. Ectopic expression of murine TPO receptor (c-mpl) in mice is pathogenic and induces erythroblastic proliferation. Blood. 1996;88:1656–1665
  14. Onishi M, Mui AL, Morikawa Y, et al. Identification of an oncogenic form of the thrombopoietin receptor MPL using retrovirus-mediated gene transfer. Blood. 1996;88:1399–1406
  15. Yan XQ, 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. 1996;88:402–409
  16. Helgason CD, Damen JE, Rosten P, et al. Targeted disruption of SHIP leads to hemopoietic perturbations, lung pathology, and a shortened life span. Genes & Development. 1998;12:1610–1620
  17. Gitler AD, Kong Y, Choi JK, 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. 2004;55:581–584
  18. Chan IT, Kutok JL, Williams IR, et al. Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative disease. The Journal of Clinical Investigation. 2004;113:528–538
  19. Chan IT, Gilliland DG. Oncogenic K-ras in mouse models of myeloproliferative disease and acute myeloid leukemia. Cell Cycle. 2004;3:536–537
  20. Prchal JF, Axelrad AA. Letter: Bone-marrow responses in polycythemia vera. The New England Journal of Medicine. 1974;290:1382
  21. Zanjani ED, Lutton JD, Hoffman R, et al. Erythroid colony formation by polycythemia vera bone marrow in vitro. Dependence on erythropoietin. The Journal of Clinical Investigation. 1977;59:841–848
  22. Dai CH, Krantz SB, Dessypris EN, 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. 1992;80:891–899
  23. Dai CH, Krantz SB, Koury ST, 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. 1994;88:497–505
  24. 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
  25. Axelrad AA, Eskinazi D, Correa PN, et al. Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombocythemia. Blood. 2000;96:3310–3321
  26. Wilks AF. Two putative protein-tyrosine kinases identified by application of the polymerase chain reaction. Proceedings of the National Academy of Sciences of the USA. 1989;86:1603–1607
  27. Velazquez L, Fellous M, Stark GR, et al. A protein tyrosine kinase in the interferon alpha/beta signaling pathway. Cell. 1992;70:313–322
  28. Ihle JN. Cytokine receptor signalling. Nature. 1995;377:591–594
  29. Berchtold S, Moriggl R, Gouilleux F, et al. Cytokine receptor-independent, constitutively active variants of STAT5. The Journal of Biological Chemistry. 1997;272:30237–30243
  30. Roder S, Steimle C, Meinhardt G, et al. STAT3 is constitutively active in some patients with Polycythemia rubra vera. Experimental Hematology. 2001;29:694–702
  31. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054–1061
  32. 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
  33. 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
  34. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. The New England Journal of Medicine. 2005;352:1779–1790
  35. 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
  36. 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
  37. Nelson ME, Steensma DP. JAK2 V617F in myeloid disorders: what do we know now, and where are we headed?. Leukemia & Lymphoma. 2006;47:177–194
  38. Saharinen P, Vihinen M, Silvennoinen O. Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain. Molecular Biology of the Cell. 2003;14:1448–1459
  39. Lindauer K, Loerting T, Liedl KR, 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. 2001;14:27–37
  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. 2005;102:18962–18967
  41. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162–2168
  42. 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
  43. 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
  44. Lacout C, Pisani DF, Tulliez M, et al. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood. 2006;108:1652–1660
  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. 2006;176:6425–6433
  46. Michiels JJ, Bernema Z, Van BD, 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]

PII: S1521-6926(06)00085-5

doi: 10.1016/j.beha.2006.11.005

Best Practice & Research Clinical Haematology
Volume 20, Issue 1 , Pages 5-12 , March 2007