A gain-of-function mutation of JAK2 in myeloproliferative disorders

New England Journal of Medicine

Volumn 352, Issue 17, 2005, Pages 1779-1790

  Kralovics, Robert ^a   Passamonti, Francesco ^b   Buser, Andreas S ^a   Teo, Soon Siong ^a   Tiedt, Ralph ^a   Passweg, Jakob R ^a   Tichelli, Andre ^a   Cazzola, Mario ^b   Skoda, Radek C ^a  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; MICROSATELLITE DNA; PHENYLALANINE; VALINE;

ANIMAL CELL; ARTICLE; BLEEDING; CELL ISOLATION; CONTROLLED STUDY; DISEASE DURATION; DNA ISOLATION; DNA SEQUENCE; FEMALE; FIBROSIS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HEMATOPOIETIC CELL; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MITOTIC RECOMBINATION; MUTATION; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; NONHUMAN; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RAT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOMATIC MUTATION; STATISTICAL ANALYSIS; T LYMPHOCYTE; THROMBOCYTHEMIA; THROMBOSIS; WESTERN BLOTTING; WILD TYPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 9; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; JANUS KINASE 2; LEUKEMIA, MYELOID, CHRONIC; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MYELOFIBROSIS; POINT MUTATION; POLYCYTHEMIA VERA; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; THROMBOCYTOSIS;

EID: 17644424955     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa051113     Document Type: Article

References (47)

1. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood 2002;100:4272-90.
2. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951; 6:372-5.
3. Adamson JW, Fialkow PJ, Murphy S, Prchal JF, Steinmann L. Polycythemia vera: stem-cell and probable clonal origin of the disease. N Engl J Med 1976;295:913-6.
4. 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;89:128-34.
5. Spivak JL. The chronic myeloproliferative disorders: clonality and clinical heterogeneity. Semin Hematol 2004;41:Suppl 3: 1-5.
6. Liu E, Jelinek J, Pastore YD, Guan Y, Prchal JF, Prchal JT. Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin. Blood 2003; 101:3294-301.
7. Prchal JF, Axelrad AA. Bone-marrow responses in polycythemia vera. N Engl J Med 1974;290:1382.
8. Weinberg RS. In vitro erythropoiesis in polycythemia vera and other myeloproliferative disorders. Semin Hematol 1997;34: 64-9.
9. Aaronson DS, Horvath CM. A road map for those who don't know JAK-STAT. Science 2002;296:1653-5.
10. 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.
11. Moliterno AR, Hankins WD, Spivak JL. Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera. N Engl J Med 1998;338: 572-80.
12. Horikawa Y, Matsumura I, Hashimoto K, et al. Markedly reduced expression of platelet c-mpl receptor in essential thrombocythemia. Blood 1997;90:4031-8.
13. 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;32:179-87.
14. Silver RT. Imatinib mesylate (Gleevec) reduces phlebotomy requirements in polycythemia vera. Leukemia 2003;17:1186-7.
15. Spivak JL, Silver RT. Imatinib mesylate in polycythemia vera. Blood 2004;103:3241-2.
16. Rege-Cambrin G, Mecucci C, Tricot G, et al. A chromosomal profile of polycythemia vera. Cancer Genet Cytogenet 1987;25:233-45.
17. Diez-Martin JL, Graham DL, Petitt RM, Dewald GW. Chromosome studies in 104 patients with polycythemia vera. Mayo Clin Proc 1991;66:287-99.
18. Mertens F, Johansson B, Heim S, Kristoffersson U, Mitelman F. Karyotypic patterns in chronic myeloproliferative disorders: report on 74 cases and review of the literature. Leukemia 1991;5:214-20.
19. Bench AJ, Nacheva EP, Hood TL, et al. Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. Oncogene 2000;19:3902-13.
20. Westwood NB, Gruszka-Westwood AM, Pearson CE, et al. The incidences of trisomy 8, trisomy 9 and D20S108 deletion in polycythaemia vera: an analysis of blood granulocytes using interphase fluorescence in situ hybridization. Br J Haematol 2000; 110:839-46.
21. Chen Z, Notohamiprodjo M, Guan XY, et al. Gain of 9p in the pathogenesis of polycythemia vera. Genes Chromosomes Cancer 1998;22:321-4.
22. Westwood NB, Gruszka-Westwood AM, Atkinson S, Pearson TC. Polycythemia vera: analysis of DNA from blood granulocytes using comparative genomic hybridization. Haematologica 2001;86:464-9.
23. Najfeld V, Montella L, Scalise A, Fruchtman S. Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected. Br J Haematol 2002;119:558-66.
24. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol 2002;30:229-36.
25. Kralovics R, Buser AS, Teo SS, et al. Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders. Blood 2003;102:1869-71.
26. Kralovics R, Stockton DW, Prchal JT. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood 2003; 102:3793-6.
27. Brodmann S, Passweg JR, Gratwohl A, Tichelli A, Skoda RC. Myeloproliferative disorders: complications, survival and causes of death. Ann Hematol 2000;79:312-8.
28. Passamonti F, Pietra D, Malabarba L, et al. Clinical significance of neutrophil CD177 mRNA expression in Ph-negative chronic myeloproliferative disorders. Br J Haematol 2004;126:650-6.
29. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292-302.
30. Pearson TC. Evaluation of diagnostic criteria in polycythemia vera. Semin Hematol 2001;38:Suppl 2:21-4.
31. Murphy S. Diagnostic criteria and prognosis in polycythemia vera and essential thrombocythemia. Semin Hematol 1999; 36:Suppl 2:9-13.
32. Ghilardi N, Skoda RC. The leptin receptor activates janus kinase 2 and signals for proliferation in a factor-dependent cell line. Mol Endocrinol 1997;11:393-9.
33. Parganas E, Wang D, Stravopodis D, et al. Jak2 is essential for signaling through a variety of cytokine receptors. Cell 1998;93: 385-95.
34. Neubauer H, Cumano A, Muller M, Wu H, Huffstadt U, Pfeffer K. Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis. Cell 1998;93: 397-409.
35. 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;93:417-24.
36. 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; 277:47954-63.
37. Saharinen P, Vihinen M, Silvennoinen O. Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain. Mol Biol Cell 2003; 14:1448-59.
38. Luo H, Rose P, Barber D, et al. Mutation in the Jak kinase JH2 domain hyperactivates Drosophila and mammalian Jak-Stat pathways. Mol Cell Biol 1997;17:1562-71.
39. Correa P, 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.
40. Schwaller J, Frantsve J, Aster J, et al. Transformation of hematopoietic cell lines to growth-factor independence and induction of a fatal myelo- and lymphoproliferative disease in mice by retrovirally transduced TEL/JAK2 fusion genes. EMBO J 1998;17:5321-33.
41. Dai CH, Krantz SB, Means RT Jr, Horn ST, Gilbert HS. Polycythemia vera blood burst-forming units-erythroid are hypersensitive to interleukin-3. J Clin Invest 1991;87: 391-6.
42. Dai CH, Krantz SB, Dessypris EN, Means RT Jr, Horn ST, Gilbert HS. 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;80:891-9.
43. 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: 3310-21.
44. Wadey RB, Pal N, Buckle B, Yeomans E, Pritchard J, Cowell JK. Loss of heterozygosity in Wilms' tumour involves two distinct regions of chromosome 11. Oncogene 1990;5:901-7.
45. Hagstrom SA, Dryja TP. Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. Proc Natl Acad Sci U S A 1999;96:2952-7.
46. Pal N, Wadey RB, Buckle B, Yeomans E, Pritchard J, Cowell JK. Preferential loss of maternal alleles in sporadic Wilms' tumour. Oncogene 1990;5:1665-8.
47. Raghavan M, Lillington DM, Skoulakis S, et al. Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias. Cancer Res 2005;65:375-8.