Phenotype and genotype in the myeloproliferative disorders

European Journal of Haematology

Volumn 79, Issue SUPPL. 68, 2007, Pages 9-12

  Spivak, Jerry L ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Diagnosis; Essential thrombocythaemia; Janus kinase 2; Mutation; Myelofibrosis; Myeloproliferative disorders; Polycythaemia vera; Thrombopoietin receptor

Indexed keywords

JANUS KINASE 2; THROMBOPOIETIN RECEPTOR; MPL PROTEIN, HUMAN; UNCLASSIFIED DRUG;

CELL DIFFERENTIATION; CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MEGAKARYOCYTE; MITOTIC RECOMBINATION; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; NONHUMAN; PATHOGENESIS; PHENOTYPE; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SEX DIFFERENCE; THROMBOCYTHEMIA; GENETICS; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW;

GENOTYPE; HUMANS; JANUS KINASE 2; MYELOPROLIFERATIVE DISORDERS; PHENOTYPE; RECEPTORS, THROMBOPOIETIN;

EID: 34548224152     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2007.00936.x     Document Type: Conference Paper

References (25)

1. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002 100 : 2292 302.
2. 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 97.
3. 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 8.
4. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005 365 : 1054 61.
5. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005 352 : 1779 90.
6. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 2005 366 : 1945 53.
7. Vannucchi AM, Antonioli E, Guglielmelli P, et al. Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 2007 110 : 840 6.
8. Moliterno AR, Williams DM, Rogers O, Spivak JL. Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression. Blood 2006 108 : 3913 5.
9. Barosi G, Viarengo G, Pecci A, Rosti V, Piaggio G, Marchetti M, Frassoni F. Diagnostic and clinical relevance of the number of circulating CD34(+) cells in myelofibrosis with myeloid metaplasia. Blood 2001 98 : 3249 55.
10. Pemmaraju N, Moliterno AR, Williams D, Rogers O, Spivak JL. The quantitative JAK2 V617F neutrophil allele burden does not correlate with thrombotic risk in essential thrombocytosis. Leukemia 2007 in press.
11. Spivak JL, Moliterno AR, Silver RT. Case 15-2006: the Budd-Chiari syndrome and V617F mutation in JAK2. N Engl J Med 2006 355 : 737.
12. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005 106 : 2162 8.
13. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007 356 : 459 68.
14. Campbell PJ, Griesshammer M, Dohner K, et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood 2006 107 : 2098 100.
15. Tefferi A, Lasho TL, Schwager SM, Steensma DP, Mesa RA, Li CY, Wadleigh M, Gary GD. The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol 2005 131 : 320 8.
16. Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R, Li CY, Wadleigh M, Lee SJ, Gilliland DG. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 2006 106 : 631 5.
17. Wolanskyj AP, Lasho TL, Schwager SM, McClure RF, Wadleigh M, Lee SJ, Gilliland DG, Tefferi A. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005 131 : 208 13.
18. 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.
19. Horikawa Y, Matsumura I, Hashimoto K, et al. Markedly reduced expression of platelet c-mpl receptor in essential thrombocythemia. Blood 1997 90 : 4031 8.
20. 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.
21. Royer Y, Staerk J, Costuleanu M, Courtoy PJ, Constantinescu SN. Janus kinases affect thrombopoietin receptor cell surface localization and stability. J Biol Chem 2005 280 : 27251 61.
22. Moliterno AR, Williams DM, Gutierrez-Alamillo LI, Salvatori R, Ingersoll RG, Spivak JL. Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. Proc Natl Acad Sci U S A 2004 101 : 11444 7.
23. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006 108 : 3472 6.
24. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006 3 : e270.
25. Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of JAK2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006 107 : 4274 81.