Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia

Blood

Volumn 107, Issue 11, 2006, Pages 4214-4222

  Schafer, Andrew I ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ALKYLATING AGENT; ANAGRELIDE; ANTITHROMBOCYTIC AGENT; BUSULFAN; ERYTHROPOIETIN; HYDROXYUREA; JANUS KINASE; JANUS KINASE 2; NUCLEAR PROTEIN; PIPOBROMAN; PROTEIN P32; STAT PROTEIN; THROMBOPOIETIN; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ANEMIA; ARTERY THROMBOSIS; BLEEDING; BLEEDING TENDENCY; BUDD CHIARI SYNDROME; CLINICAL TRIAL; DEEP VEIN THROMBOSIS; DRUG HYPERSENSITIVITY; ERYTHROCYTOSIS; HEMOSTASIS; HUMAN; LABORATORY TEST; LUNG EMBOLISM; MYELODYSPLASTIC SYNDROME; MYELOFIBROSIS; MYELOPROLIFERATIVE DISORDER; PHENOTYPE; PHLEBOTOMY; POINT MUTATION; POLYCYTHEMIA VERA; PRIORITY JOURNAL; REVIEW; THROMBOCYTHEMIA; THROMBOCYTOSIS; VON WILLEBRAND DISEASE;

EID: 33744457651     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-08-3526     Document Type: Review

References (108)

1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951;6:372-375.
2. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100:2292-2302.
3. Spivak JL, Barosi G, Tognoni G, et al. Chronic myeloproliferative disorders. Hematology (Am Soc Hematol Educ Program) 2003;200-224.
4. Yavuz AS, Lipsky PE, Yavus S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocystosis from single-cell analysis mutations in the c-kit gene. Blood. 2002;100:661-665.
5. Gotlib J, Cools J, Malone JM III, Schrier SL, Gilliland DG, Coutre SE. The FIP1LI-PDGFRalpha fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management. Blood. 2004;103:2879-2891.
6. Spivak JL. The chronic myeloproliferative disorders: clonality and clinical heterogeneity. Semin Hematol. 2004;41(2 suppl 3):1-5.
7. Ferraris AM, Mangerini R, Racchi O, et al. Heterogeneity of clonal development in chronic myeloproliferative disorders. Am J Hematol. 1999;60:158-160.
8. 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;93:417-424.
9. Nimer SD. Essential thrombocythemia: another "heterogeneous disease" better understood? Blood. 1999;93:415-416.
10. Tefferi A. Essential thrombocythemia: scientific advances and current practice. Curr Opin Hematol. 2006;13:93-98.
11. Van Etten RA, Shannon KM. Focus on myeloproliferative diseases and myelodysplastic syndromes. Cancer Cell. 2004;6:547-552.
12. Kuter DJ, Rosenberg RD. The reciprocal relationship of thrombopoietin (c-Mpl ligand) to changes in the platelet mass during busulfan-induced thrombocytopenia in the rabbit. Blood. 1995;85:2720-2730.
13. Horikawa Y, Matsumura I, Hashimoto K, et al. Markedly reduced expression of platelet c-mpl receptor in essential thrombocythemia. Blood. 1997;90:4031-4038.
14. Teofili L, Pierconti F, Di Febo A, et al. The expression pattern of c-mpl in megakaryocytes correlates with thrombotic risk in essential thrombocythemia. Blood. 2002;100:714-717.
15. 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;96:3310-3321.
16. Rawlings JS, Rosler KM, Harrison DA. The JAK/STAT signaling pathway. J Cell Sci. 2004;117:1281-1283.
17. 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;32:179-187.
18. Röder S, Steimle C, Meinhardt G, Pahl HL. STAT3 is constitutively active in some patients with polycythemia rubra vera. Exp Hematol. 2001;29:694-702.
19. Kaushansky K. On the molecular origins of the chronic myeloproliferative disorders: it all makes sense. Blood. 2005;105:4187-4190.
20. Royer Y, Staerk J, Costuleanu M, Courtoy PJ, Constantinescu SN. Janus kinases affect thrombopoietin receptor cell surface localization and stability. J Biol Chem. 2005;280:27251-27261.
21. Goldman JM. A unifying mutation in chronic myeloproliferative disorders. N Engl J Med. 2005;352:1744-1746.
22. Saharinen P, Vihinen M, Silvennoinen O. Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain. Mol Biol Cell. 2003;14:1448-1459.
23. James C, Ugo V, LeCouedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature. 2005;434:1144-1148.
24. Levine RL, Wadleigh M, Cools J, et al. Activating mutation of the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-397.
25. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative diseases. Lancet. 2005;365:1054-1061.
26. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790.
27. Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005;280:22788-22792.
28. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617 mutation in chronic myeloproliferative disorders. Blood. 2995;106:2162-2168.
29. Lu X, Levine R, Tong W, et al. Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation. Proc Natl Acad Sci U S A. 2005;102:18962-18967.
30. Silva M, Richard C, Benito A, Sanz C, Olalla I, Fernandez-Luna JL. Expression of Bcl-x in erythroid precursors from patients with polycythemia vera. N. Engl J Med. 1998;338:564-571.
31. Temerinac S, Klippel S, Strunck E, et al. Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is overexpressed in polycythemia rubra vera. Blood. 2000;95:2569-2576.
32. Goerttler PS, Kreutz C, Donauer J, et al. Gene expression profiling in polycythaemia vera: overexpression of transcription factor NF-E2. Br J Haematol. 2005;129:138-150.
33. Moliterno AR, Hankins WD, Spivak JL. Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera. N Engl J Med. 1998;338:572-580.
34. Kralovics R, Teo S-S, 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.
35. Zaleskas VM, Krause DS, Lazarides K, et al. Molecular pathogenesis of polycythemia induced in mice by JAK V617F [abstract]. Blood. 2005;106:116.
36. Levine RL, Belisle C, Wadleigh M, et al. X-inactivation based clonality analysis and quantitative JAK2V617F assessment reveals a strong association between clonality and JAK2V617F in PV but not in ET/MMM, and identifies a subset of JAK2V617F negative ET and MMM patients with clonal hematopoiesis. Blood. Prepublished on Jan 24, 2006, as DOI 10.1182/blood-2005-09-3900.
37. Tsui HW, Siminovitch KA, de Souza L, Tsui FW. Motheaten and viable motheaten mice have mutations in the hematopoietic cell phosphatase gene. Nat Genet. 1993;4:124-129.
38. Wang Z, Shen D, Parsons DW, et al. Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science. 2004;304:1164-1166.
39. Green A, Campbell P, Scott L, et al. The JAK2 V617F mutation identifies a biologically distinct subtype of essential thrombocythemia which resembles polycythemia vera [abstract]. Blood. 2005;106:253.
40. Wolanskyj AP, Lasho TL, Schwager SM, et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol. 2005;131:208-213.
41. Lamy T, Devillers A, Bernard M, et al. Inapparent polycythemia vera: an unrecognized diagnosis. Am J Med. 1997;102:14-20.
42. 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 the myelodysplastic syndrome. Blood. 2005;106:1207-1209.
43. Jelinek J, Oki Y, Gharibyan V, et al. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia-chromosome negative CML and megakaryocytic leukemia. Blood. 2005;106:3370-3373.
44. Andrieux J, Demory JL, Caulier MT, et al. Karyotypic abnormalities in myelofibrosis following polycythemia vera. Cancer Genet Cytogenet. 2003; 40:118-123.
45. Ellis JT, Peterson P, Geller SA, Rappaport H. Studies of the bone marrow in polycythemia vera and evolution of myelofibrosis and second hematologic malignancies. Semin Hematol. 1986;23:144-155.
46. Gruppo Italiano Studio Policitemia. Polycythemia vera: the natural history of 1213 patients followed for 20 years. Ann Intern Med. 1995;123:656-664.
47. Cervantes F, Alvarez-Larran A, Talarn C, Gomez M, Montserrat E. Myelofibrosis with myeloid metaplasia following essential thrombocythemia: actuarial probability, presenting characteristics and evolution in a series of 195 patients. Br J Haematol. 2002;118:786-790.
48. Thiele J, Kvasnicka HM, Schmitt-Graeff A, Zankovich R, Diehl V. Follow-up examinations including sequential bone marrow biopsies in essential thrombocythemia (ET): a retrospective clinico-pathological study of 120 patients. Am J Hematol. 2002;70:283-291.
49. Harrison CN, Campbell PJ, Buck G, et al for the United Kingdom Medical Research Council Primary Thrombocythemia 1 Study. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med. 2005;353:33-45.
50. Bock O, Schlue J, Lehmann U, et al. Megakaryocytes from chronic myeloproliferative disorders show enhanced nuclear bFGF expression. Blood. 2002;100:2274-2275.
51. Chagraoui H, Komura E, Tulliez M, Giraudier S, Vainchenker W, Wendling F. Prominent role of TGF-β1 in thrombopoietin-induced myelofibrosis in mice. Blood. 2002;100:3495-3503.
52. Finazzi G, Caruso V, Marchioli R, et al. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood. 2005;105:2664-2670.
53. Berk PD, Goldberg JD, Silverstein MN, et al. Increased incidence of acute leukemia in polycythemia vera associated with chlorambucil therapy. N Engl J Med. 1981;304:441-447.
54. Schafer AI. Thrombocytosis. N Engl J Med. 2004;350:1211-1219.
55. Finazzi G, Ruggeri M, Rodeghiero F, Barbui T. Second malignancies in patients with essential thrombocythaemia treated with busulphan and hydroxyurea: long-term follow-up of a randomized clinical trial. Br J Haematol. 2000;110:577-583.
56. Sterkers Y, Preudhomme C, Lai J-L, et al. Acute myeloid leukemia and myelodysplastic syndromes following essential thrombocythemia treated with hydroxyurea: high proportion of cases with 17p deletion. Blood. 1998;91:616-622.
57. Schafer AI. Bleeding and thrombosis in the myeloproliferative disorders. Blood. 1984;64:1-12.
58. Cortelazzo S, Finazzi G, Ruggeri M, et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. N Engl J Med. 1995;332:1132-1136.
59. Pearson TC. The risk of thrombosis in essential thrombocythemia and polycythemia vera. Semin Oncol. 2002;29(suppl 10):16-21.
60. Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol. 2004;128:275-290.
61. Landolfi R, Rocca B, Patrono C. Bleeding and thrombosis in myeloproliferative disorders: mechanisms and treatment. Critical Rev Oncol Hematol. 1995;20:203-222.
62. Denninger M-H, Chait Y, Casadevall N, et al. Cause of portal or hepatic venous thrombosis in adults: the role of multiple concurrent factors. Hepatology. 2000;31:587-591.
63. Michiels JJ, Abels J, Steketee J, van Vilet HH, Vuzevski VD. Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. Ann Intern Med. 1985;102:466-471.
64. Wright CA, Tefferi A. A single institutional experience with 43 pregnancies in essential thrombocythemia. Eur J Haematol. 2001;66:152-159.
65. Pearson TC. Hemorrheologic considerations in the pathogenesis of vascular occlusive events in polycythemia vera. Semin Thromb Hemost. 1997;23:433-439.
66. Valles J, Santos MT, Aznar J, et al. Platelet-erythrocyte interactions enhance alpha (IIb)beta(3) integrin receptor activation and P-selectin expression during platelet recruitment: down-regulation by aspirin ex vivo. Blood. 2002;99:3978-3984.
67. Budde U, van Genderen PJJ. Acquired von Willebrand disease in patients with high platelet counts. Semin Thromb Hemostas. 1997;23:425-431.
68. Passamonti F, Rumi E, Pietra D, et al. Relation between JAK2 (V617F) mutation status, granulocyte activation and constitutive mobilization of CD34-positive cells into peripheral blood in myeloproliferative disorders. Blood. Prepublished on December 22, 2005, as DOI 10.1182/blood-2005-09-3826.
69. Falenga A, Marchetti M, Barbui T, Smith CW. Pathogenesis of thrombosis in essential thrombocythemia and polycythemia vera: the role of neutrophils. Semin Hematol. 2005;42:239-247.
70. Villmow T, Kemkes-Matthes B, Matzdorff AC. Markers of platelet activation and platelet-leukocyte interaction in patients with myeloproliferative syndromes. Thromb Res. 2003;108:139-145.
71. Schatterman GC. Adult bone marrow-derived hemangioblasts, endothelial cell progenitors, and EPCs. Curr Top Dev Biol. 2004;64:141-180.
72. Urbich C, Dimmeler S. Endothelial progenitor cells. Characterization and role in vascular biology. Circ Res. 2004;95:343-353.
73. Kubota Y, Tanaka T, Ohnishi H, et al. Constitutively activated phosphatidylinositol-3-kinase primes platelets from patients with chronic myelogenous leukemia for thrombopoietin-induced aggregation. Leukemia. 2004;18:1127-1137.
74. Gassmann M, Heinicke K, Soliz J, et al. Non-erythroid functions of erythropoietin. Adv Exp Med Biol. 2003;543:323-330.
75. Smith KJ, Bleyer AJ, Little WC, Sane DC. The cardiovascular effects of erythropoietin. Cardiovasc Res. 2003;59:538-548.
76. Andreasson B, Harrison C, Lindstedt G, Linch D, Kutti J. Monoclonal myelopoiesis and subnormal erythropoietin concentration are independent risk factors for thromboembolic complications in essential thrombocythemia. Blood. 2003;101:783-784.
77. McMullin MF, Bareford D, Campbell P, et al On behalf of the General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis. Br J Haematol. 2005;130:174-195.
78. Johansson PL, Safai-Kutti S, Kutti J. An elevated venous haemoglobin concentration cannot be used as a surrogate marker for absolute erythrocytosis: a study of patients with polycythaemia vera and apparent polycythaemia. Br J Haematol. 2005;129:701-705.
79. Spivak JL. Diagnosis of the myeloproliferative disorders: resolving phenotypic mimicry. Semin Hematol. 2003;40(suppl 1):1-5.
80. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood. 2002;100:4272-4290.
81. Tefferi A. Polycythemia vera: a comprehensive review and clinical recommendations. Mayo Clin Proc. 2003;78:174-194.
82. Sirhan S, Fairbanks VF, Tefferi A. Red cell mass and plasma volume measurements in polycythemia. Evaluation of performance and practical utility. Cancer. 2005;104:213-215.
83. Mossuz P, Girodon F, Donnard M, et al. Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. Haematologica. 2004;89:1194-1198.
84. Tefferi A, Sirhan S, Lasho TL, et al. Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol. 2005;131:166-171.
85. Rice L, Popat U. Every case of essential thrombocythemia should be tested for the Philadelphia chromosome. Am J Hematol. 2005;78:71-73.
86. Gordeuk VR, Stockton DW, Prchal JT. Congenital polycythemias/ erythrocytosis. Haematologica. 2005;90:109-116.
87. Van Maerken T, Hunninck K, Callewaert L, Benoit Y, Laureys G, Verlooy J. Familial and congenital polycythemias: a diagnostic approach. J Pediatr Hematol Oncol. 2004;26:407-416.
88. Ang SO, Chen H, Hirota K, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet. 2002;32:614-621.
89. Percy MJ, Zhao Q, Flores A, et al. Familial erythrocytosis associated with a mutation in the HIF prolyl hydroxylase, PHD2 [abstract]. Blood. 2005;106:41a. Abstract 127.
90. Kondo T, Okabe M, Sanada M, et al. Familial essential thrombocythemia associated with one-base deletion in the 5′- untranslated region of the thrombopoietin gene. Blood. 1998;92:1091-1096.
91. Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998;18:49-52.
92. Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood. 2000;95:3280-3288.
93. 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.
94. Prchal JT. Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis. Hematol Oncol Clin North Am. 2003;17:1151-1158.
95. Griesshammer M, Bangerter M, Sauer T, Wennauer R, Bergmann L, Heimpel H. Aetiology and clinical significance of thrombocytosis: analysis of 732 patients with an elevated platelet count. J Intern Med. 1999;245:295-300.
96. Buss DH, Cashell AW, O'Connor ML, Richards F II, Case LD. Occurrence, etiology, and clinical significance of extreme thrombocytosis: a study of 280 cases. Am J Med. 1994;96:247-253.
97. Kaser A, Brandacher G, Steurer W, et al. Interleukin-6 stimulates thrombopoiesis through thrombopoietin: role in inflammatory thrombocytosis. Blood. 2001;98:2720-2725.
98. Pearson TC,Wetherley-Mein G. Vascular occlusive episodes and venous haematocrit in primary proliferative polycythaemia. Lancet. 1978;2:1219-1222.
99. Streiff MB, Smith B, Spivak JL. The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patterns. Blood. 2002;99:1144-1149.
100. Andreasson B, Lofvenberg E, Westin J. Management of patients with polycythaemia vera: results of a survey among Swedish haematologists. Eur J Haematol. 2005;74:489-495.
101. Finazzi G, Barbui T. Risk-adapted therapy in essential thrombocythemia and polycythemia vera. Blood Rev. 2005;19:243-252.
102. Tomer A. Effects of anagrelide on in vivo megakaryocyte proliferation and maturation in essential thrombocythemia. Blood. 2002;99:1602-1609.
103. Storen EC, Tefferi A. Long-term use of anagrelide in young patients with essential thrombocythemia. Blood. 2001;97:863-866.
104. Barbui T, Buelli M, Cortelazzo S, Viero P, De Gaetano G. Aspirin and risk of bleeding in patients with thrombocythemia. Am J Med. 1987;83:265-268.
105. Barbui T, Barosi G, Grossi A, et al. Practice guidelines for the therapy of essential thrombocythemia. A statement from the Italian Society of Hematology, the Italian Society of Experimental Hematology and the Italian Group for Bone Marrow Transplantation. Haematologica. 2004;89:215-232.
106. Landolfi R, Marchioli R, Kutti J, et al for the European Collaboration on Low-Dose Aspirin in Polycythemia Vera Investigators. Efficacy and safety of low-dose aspirin in polycythemia vera. N Engl J Med. 2004;350:114-124.
107. Jurado M, Deeg H, Gooley T, et al. Haemopoietic stem cell transplantation for advanced polycythaemia vera or essential thrombocythaemia. Br J Haematol. 2001;112:392-396.
108. Rondelli D, Barosi G, Bacigalupo A, et al. Allogeneic hematopoietic stem-cell transplantation with reduced-intensity conditioning in intermediate- or high-risk patients with myelofibrosis with myeloid metaplasia. Blood. 2005;105:4115-4119.