A role for JAK2 mutations in myeloproliferative diseases

Annual Review of Medicine

Volumn 59, Issue , 2008, Pages 213-222

  Morgan, Kelly J ^a   Gilliland, D Gary ^a,b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Chronic myelogenous leukemia (CML); Essential thrombocythemia (ET); Hematopoietic stem cell (HSC); Idiopathic myelofibrosis (IMF); Polycythemia vera (PV)

Indexed keywords

JANUS KINASE 2; STAT PROTEIN;

ALLELE; BONE MARROW CELL; CELL CLONE; CELL DIFFERENTIATION; GENE; GENE MUTATION; HUMAN; JAK2 GENE; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; NONHUMAN; POLYCYTHEMIA VERA; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; THROMBOCYTHEMIA;

HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; STAT TRANSCRIPTION FACTORS;

EID: 39649099388     PISSN: 00664219     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.med.59.061506.154159     Document Type: Review

References (38)

1. Vardiman JW, Harris NL, Brunning RD. 2002. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 100:2292-302
2. Tefferi A, Gilliland G. 2006. Classification of chronic myeloid disorders: from Dameshek towards a semimolecular system. Best Pract. Res. Clin. Haematol. 19:365-85
3. Michiels JJ, De Raeve H, Hebeda K, et al. 2007. WHO bone marrow features and European clinical, molecular, and pathological (ECMP) criteria for the diagnosis of myeloproliferative disorders. Leuk. Res. 31:1031-38
4. Dameshek W. 1951. Some speculations on the myeloproliferative syndromes. Blood 6:372-75
5. Nowell PC, Hungerford DA. 1960. Chromosome studies on normal and leukemic human leukocytes. J. Natl. Cancer Inst. 25:85-109
6. Krantz SB. 1968. Response of polycythemia vera marrow to erythropoietin in vitro. J. Lab. Clin. Med. 71:999-1012
7. Ward HP, Vautrin R, Kurnick J, et al. 1974. Presence of a myeloproliferative factor in patients with polycythemia vera and agnogenic myeloid metaplasia. I. Expansion of the erythropoietin-responsive stem cell compartment. Proc. Soc. Exp. Biol. Med. 147:305-8
8. Prchal JF, Axelrad AA. 1974. Letter: Bone-marrow responses in polycythemia vera. N. Engl. J. Med. 290:1382
9. Tefferi A, Silverstein MN. 1998. Treatment of polycythaemia vera and essential thrombocythaemia. Baillieres Clin. Haematol. 11:769-85
10. Adamson JW, Fialkow PJ, Murphy S, et al. 1976. Polycythemia vera: stem-cell and probable clonal origin of the disease. N. Engl. J. Med. 295:913-16
11. Fialkow PJ, Jacobson RJ, Papayannopoulou T. 1977. Chronic myelocytic leukemia: clonal origin in a stem cell common to the granulocyte, erythrocyte, platelet and monocyte/macrophage. Am. J. Med. 63:125-30
12. Fialkow PJ, Faguet GB, Jacobson RJ, et al. 1981. Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. Blood 58:916-19
13. James C, Ugo V, Le Couedic JP, et al. 2005. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434:1144-48
14. Levine RL, Wadleigh M, Cools J, et al. 2005. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7:387-97
15. Baxter EJ, Scott LM, Campbell PJ, et al. 2005. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054-61
16. Kralovics R, Passamonti F, Buser AS, et al. 2005. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med. 352:1779-90
17. Tefferi A, Gilliland DG. 2005. JAK2 in myeloproliferative disorders is not just another kinase. Cell Cycle 4:1053-56
18. Wilks AF. 1989. Two putative protein-tyrosine kinases identified by application of the polymerase chain reaction. Proc. Natl. Acad. Sci. USA 86:1603-7
19. Wilks AF, Harpur AG, Kurban RR, et al. 1991. Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase. Mol. Cell. Biol. 11:2057-65
20. Saharinen P, Takaluoma K, Silvennoinen O. 2000. Regulation of the Jak2 tyrosine kinase by its pseudokinase domain. Mol. Cell Biol. 20:3387-95
21. Funakoshi-Tago M, Pelletier S, Matsuda T, et al. 2006. Receptor specific downregulation of cytokine signaling by autophosphorylation in the FERM domain of Jak2. EMBO J. 25:4763-72
22. Feng J, Witthuhn BA, Matsuda T, et al. 1997. Activation of Jak2 catalytic activity requires phosphorylation of Y1007 in the kinase activation loop. Mol. Cell Biol. 17:2497-501
23. Khwaja A. 2006. The role of Janus kinases in haemopoiesis and haematological malignancy. Br. J. Haematol. 134:366-84
24. Heisterkamp N, Stam K, Groffen J, et al. 1985. Structural organization of the bcr gene and its role in the Ph′ translocation. Nature 315:758-61
25. Heiss S, Erdel M, Gunsilius E, et al. 2005. Myelodysplastic/ myeloproliferative disease with erythropoietic hyperplasia (erythroid preleukemia) and the unique translocation (8;9)(p23;p24): first description of a case. Hum. Pathol. 36:1148-51
26. Reiter A, Walz C, Watmore A, et al. 2005. The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res. 65:2662-67
27. Levine RL, Gilliland DG. 2007. JAK-2 mutations and their relevance to myeloproliferative disease. Curr. Opin. Hematol. 14:43-47
28. Levine RL, Loriaux M, Huntly BJ, et al. 2005. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 106:3377-79
29. Steensma DP, Dewald GW, Lasho TL, et al. 2005. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 106:1207-9
30. Jelinek J, Oki Y, Gharibyan V, et al. 2005. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 106:3370-73
31. Jamieson CH, Gotlib J, Durocher JA, et al. 2006. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc. Natl. Acad. Sci. USA 103:6224-29
32. Bogani C, Guglielmelli P, Antonioli E, et al. 2007. B-, T-, and NK-cell lineage involvement in JAK2V617F-positive patients with idiopathic myelofibrosis. Haematologica 92:258-59
33. Larsen TS, Christensen JH, Hasselbalch HC, et al. 2007. The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of patients with Philadelphia-chromosome negative chronic myeloproliferative disorders. Br. J. Haematol. 136:745-51
34. Zhao R, Xing S, Li Z, et al. 2005. Identification of an acquired JAK2 mutation in polycythemia vera. J. Biol. Chem. 280:22788-92
35. Lu X, Levine R, Tong W, et al. 2005. Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation. Proc. Natl. Acad. Sci. USA 102:18962-67
36. Wernig G, Mercher T, Okabe R, et al. 2006. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 107:4274-81
37. Lacout C, Pisani DF, Tulliez M, et al. 2006. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood 108:1652-60
38. Li Z, Xu M, Xing S, et al. 2007. Erlotinib effectively inhibits JAK2V617F activity and polycythemia vera cell growth. J. Biol. Chem. 282:3428-32