Pathogenesis of polycythemia vera

Haematologica

Volumn 83, Issue 2, 1998, Pages 150-158

  Fernandez Luna, José Luis ^a   Silva, Maite ^a   Richard, Carlos ^a   Sanz, Cristina ^a   Benito, Adalberto ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

Erythropoietin; IGF I; Pathogenesis; Polycythemia vera

Indexed keywords

2 MORPHOLINO 8 PHENYLCHROMONE; ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; GROWTH FACTOR; PROTEIN TYROSINE KINASE;

ANIMAL CELL; APOPTOSIS; DOSE RESPONSE; ERYTHROID CELL; HUMAN; HUMAN CELL; NONHUMAN; PATHOGENESIS; POLYCYTHEMIA VERA; REGULATOR GENE; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; HUMANS; MICE; POLYCYTHEMIA VERA;

EID: 0031895259     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (87)

1. Green AR. Pathogenesis of polycythemia vera. Lancet 1996; 347:844-5.
2. Adamson JW, Fialkow PJ. Annotation: The pathogenesis of myeloproliferative syndromes. Br J Haematol 1978; 38:299-303.
3. Croizat H, Amato D, McLeod DL, et al. Differences among myeloproliferative disorders in the behavior of their restricted progenitor cells in culture. Blood 1983; 62:578-84.
4. Ogawa M. Annotation: cellular mechanisms of myeloproliferative disorders. Br J Haematol 1984; 58:563-5.
5. Fairbairn LJ, Cowling GJ, Reipert BM, Dexter TM. Suppression of apoptosis allows differentiation and development of a multipotent hematopoietic cell line in the absence of added growth factors. Cell 1993; 74:823-32.
6. Miyake T, Kung CKH, Goldwasser E. Purification of human erythropoietin. J Biol Chem 1977; 252:5558-64.
7. Jacobs K, Shoemaker C, Rudersdorf R, et al. Isolation and characterization of genomic and cDNA clones of human erythropoietin. Nature 1985; 313:806-10.
8. Wognum AW, Lansdorp PM, Humphries RK, Krystal G. Detection and isolation of the erythropoietin receptor using biotinylated erythropoietin. Blood 1990; 76:697-705.
9. Wu H, Liu X, Jaenisch R, Lodish HF. Generation of committed erythroid BFU-E and CFU-E progenitors does not require erythropoietin or the erythropoietin receptor. Cell 1995; 83:59-67.
10. Koury MJ, Bondurant MC. Maintenance by erythropoietin of viability and maturation of murine erythroid precursor cells. J Cell Physiol 1988; 137:65-74.
11. Koury MJ, Bondurant MC. Erythropoietin retards DNA breakdown and prevents programmed death in erythroid progenitor cells. Science 1990; 248:378-81.
12. Yu H, Bauer B, Lipke GK, Phillips RL, Van Zant G. Apoptosis and hematopoiesis in murine fetal liver. Blood 1993; 81:373-84.
13. Kelley LL, Koury MJ, Bondurant MC, Koury ST, Sawyer ST, Wickrema A. Survival or death of individual proerythroblasts results from differing erythropoietin sensitivities: A mechanism for controlled rates of erythrocyte production. Blood 1993; 82: 2340-52.
14. D'Andrea AD, Lodish HF, Wong GG. Expression cloning of the murine erythropoietin receptor. Cell 1989; 57:277-85.
15. Yoshimura A, Longmore G, Lodish HF. Point mutation in the exoplasmic domain of the erythropoietin receptor resulting in hormone-independent activation and tumorigenicity. Nature 1990; 348:647-9.
16. D'Andrea AD, Yoshimura A, Youssoufian H, Zon LI, Koo JW, Lodish HF. The cytoplasmic region of the erythropoietin receptor contains nonoverlapping positive and negative growth-regulatory domains. Mol Cell Biol 1991; 11:1980-7.
17. Hess G, Rose P, Gamm H, Papadileris S, Huber C, Seliger B. Molecular analysis of erythropoietin receptor system in patients with polycythemia vera. Br J Haematol 1994; 88:794-802.
18. Le Couedic JP, Mitjavila MT, Villeval JL. Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. Blood 1996; 87:1502-11.
19. Nakamura Y, Komatsu N, Nakauchi H. A truncated erythropoietin receptor that fails to prevent programmed cell death of erythroid cells. Science 1992; 257:1138-41.
20. Nakamura Y, Nakauchi H. A truncated erythropoietin receptor and cell death: a reanalysis. Science 1994; 264:588-9.
21. Chiba S, Takahashi T, Takeshita K, et al. Selective expression of mRNA coding for the truncated form of erythropoietin receptor in hematopoietic cells and its decrease in patients with polycythemia vera. Blood 1997; 90:97-104.
22. Prchal JF, Axelrad AA. Bone marrow responses in polycythemia vera. N EnglJ Med 1974; 290:1382-5.
23. Lemoine F, Najman A, Baillou C, et al. A prospective study of the value of bone marrow erythroid progenitor cultures in polycythemia. Blood 1986; 68:996-1002.
24. De La Chapelle A, Sistonen P, Lehvaslaiho H, Ikkala E, Juvonen E. Familial erythrocytosis genetically linked to erythropoietin receptor gene. Lancet 1993; 341:82-4.
25. De La Chapelle A, Traskelin AL, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci USA 1993; 90:4495-9.
26. Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 1995; 86:15-22.
27. Arcasoy MO, Degar BA, Harris KW, Forget BG. Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood 1997; 89:4628-35.
28. de Wolf JT, Beentjes JA, Esselink MT, et al. In polycythemia vera human IL-3 and GM-CSF enhance erythroid colony growth in the absence of erythropoietin. Exp Hematol 1989; 17:981-3.
29. Dai CH, Krantz SB, Means RT, Horn ST, Gilbert HS. Polycythemia vera blood burst-forming units-erythroid are hypersensitive to interleukin-3. J Clin Invest 1991; 87:391-6.
30. Dai CH, Krantz SB, Dessypris EN, Means RT, Horn ST, Gilbert HS. Polycythemia vera. II. Hypersensitivity of bone marrow erythroid, granulocyte-macrophage, and megakaryocyte progenitor cells to IL-3 and GM-CSF. Blood 1992; 80:891-9.
31. Li Y, Hetet G, Maurer AM, Chait Y, Dhermy D, Briere J. Spontaneous megakaryocyte colony formation in myeloproliferative disorders is not neutralizable by antibodies against IL-3, IL-6, and GM-CSF. Br J Haematol 1994; 87:471-6.
32. Dai CH, Krantz SB, Green WF, Gilbert HS. Polycythemia vera. III. Burst-forming units-erythroid (BFU-E) response to SCF and c-kit receptor expression. Br J Haematol 1994; 86:12-21.
33. Dai CH, Krantz SB, Koury ST, Kollar K. Polycythemia vera. IV. Specific binding of SCF to normal and polycythemia vera highly purified erythroid progenitor cells. BrJ Haematol 1994; 88:497-505.
34. Ratajczak MZ, Luger SM, DeRiel K, Abrahm J, Calabretta B, Gewirtz AM. Role of the kit proto-oncogene in normal and malignant human hematopoiesis. Proc Natl Acad Sci USA 1992; 89:1710-4.
35. Montagna C, Massaro P, Morali F, Foa P, Maiolo AT, Eridani S. In vitro sensitivity of human erythroid progenitors to hemopoietic growth factors: studies on primary and secondary polycythemia. Haematologica 1994; 79:311-8.
36. Correa PN, Axelrad AA. Production of erythropoietic bursts by progenitor cells from adult human peripheral blood in an improved serum-free medium: Role of insulin-like growth factor-I. Blood 1991; 78:2823-33.
37. Correa PN, Eskinazi D, Axelrad AA. Circulating erythroid progenitors in polycythemia vera are hypersensitive to insulin-like growth factor-I in vitro: Studies in an improved serum-free medium. Blood 1994; 83:99-112.
38. Kurtz A, Hartl W, Jelkmann W, Zapf J, Bauer C. Activity in fetal bovine serum that stimulates erythroid colony formation in fetal mouse livers is IGF-I. J Clin Invest 1985; 76:1643-8.
39. Sawada K, Krantz SB, Dessypris EN, Koury ST, Sawyer ST. Human colony-forming units erythroid do not require accessory cells, but do require direct interaction with IGF-I and/or insulin for erythroid differentiation. J Clin Invest 1989; 83:1701-9.
40. Liu JP, Baker J, Perkins AS, Robertson FJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor-I (IGF-1) and Type I IGF receptor (IGF-1r). Cell 1993; 75:59-72.
41. Baker J, Liu JP, Robertson EJ, Efstratiadis A. Role of insulin-like growth factors in embrionic and postnatal growth. Cell 1993; 75:73-82.
42. Mirza AM, Correa PN, Axelrad AA. Increased basal and induced tyrosine phosphorylation of the insulin-like growth factor I receptor beta subunit in circulating mononuclear cells of patients with polycythemia vera. Blood 1995; 86:877-82.
43. Jones JI, Clemmons DR. Insulin-like growth factors and their binding proteins: Biological actions. Endocrinol Rev 1995; 16:3-34.
44. Schmid C, Rutishauser J, Schlapfer I, Froesch ER, Zapf J. Intact but not truncated insulin-like growth factor binding protein-3 (IGFBP-3) blocks IGF-I-induced stimulation of osteoblasts: control of IGF signalling to bone cells by IGFBP-3-specific proteolysis? Biochem Biophys Res Comm 1991; 179:579-85.
45. Okajima T, Iwashita M, Takeda Y. Inhibitory effects of IGFBP-1 and -3 on IGF-activated glucose consumption in mouse BALB/c 3T3 fioroblasts. J Endocrinol 1993; 136:457-70.
46. Elgin RG, Busby WH, Clemmons DR. An insulin-like growth factor (IGF) binding protein enhances the biologic response to IGF-I. Proc Natl Acad Sci USA 1987; 84:3254-8.
47. Mirza AM, Ezzat S, Axelrad AA. Insulin-like growth factor binding protein-1 is elevated in patients with polycythemia vera and stimulates erythroid burst formation in vitro. Blood 1997; 89:1862-9.
48. Damen JE, Liu L, Rosten P, et al. The 145-kDa protein induced to associate with Shc by multiple cytokines is an inositol tetraphosphate and phosphatidylinositol 3,4,5-triphosphate 5-phosphatase. Proc Natl Acad Sci USA 1996; 93:1689-93.
49. Barber DL, D'Andrea AD. Erytropoietin and interleukin-2 activate distinct JAK kinase family members. Mol Cell Biol 1994; 14:6506-14.
50. Wakao H, Harada N, Kitamura T, Mui AL-F, Miyajima A. Interleukin 2 (IL-2) and erythropoietin (EPO) activate STAT5/MGF via distinct pathways. EMBO J 1995; 14:2527-35.
51. Dusanter-Fourt I, Casadevall N, Lacombe C, et al. Erythropoietin induces the tyrosine-phosphorylation of its own receptor in human erythropoietin-responsive cells. J Biol Chem 1992; 267:10670-5.
52. Adachi M, Fischer EH, Ihle J, et al. Mammalian SH2-containing protein tyrosine phosphatases. Cell 1996; 85:15.
53. Damen JE, Krystal G. Early events in erythropoietin-induced signaling. Exp Hematol 1996; 24:1455-9.
54. Penta K, Sawyer ST. Erythropoietin induces the tyrosine phosphorylation, nuclear translocation, and DNA binding of STAT1 and STAT5 in erythroid cells. J Biol Chem 1995; 270:31282-7.
55. Jiao H, Berrada K, Yang W, Tabrizi M, Platanias LC, Yi T. Direct association with and dephosphorylation of Jak2 kinase by the SH2-domain-containing protein tyrosine phosphatase SHP-1. Mol Cell Biol 1996; 16:6985-92.
56. Endo TA, Masuhara M, Yokouchi M, et al. A new protein containing an SH2 domain that inhibits JAK kinases. Nature 1997; 387:921-4.
57. Matsumoto A, Masuhara M, Mitsui K, et al. CIS, a cytokine inducible SH2 protein, is a target of the JAK-STAT5 pathway and modulates STAT5 activation. Blood 1997; 89:3148-54.
58. Jacobs-Helber SM, Penta K, Sun Z, Lawson A, Sawyer ST. Distinct signaling from stem cell factor and erythropoietin in HCD-57 cells. J Biol Chem 1997; 272:6850-3.
59. Damen JE, Cutler RL, Jiao H, Yi T, Krystal G. Phosphorylation of Y503 in the erythropoietin receptor (EpR) is essential for binding the P85 subunit of phosphatidylinositol (PI) 3-kinase and for EpR associated PI 3-kinase activity. J Biol Chem 1995; 270:23402-8.
60. Miura Y, Miura O, Ihle JN, Aoki N. Activation of the mitogen-activated protein kinase pathway by the erythropoietin receptor. J Biol Chem 1994; 269: 29962-9.
61. Ren H-Y, Komatsu N, Shimizu R, Okada K, Miura Y. Erythropoietin induces tyrosine phosphorylation and activation of phospholipase C-1 in a human erythropoietin-dependent cell line. J Biol Chem 1994; 269:19633-8.
62. Miura O, Miura Y, Nakamura N, et al. Induction of tyrosine phosphorylation of Vav and expression of Pim-1 correlates with Jak2-mediated growth signaling from the erythropoietin receptor. Blood 1994; 84:4135-41.
63. Dai C-H, Krantz SB, Sawyer ST. Polycythemia vera V. Enhanced proliferation and phosphorylation due to vanadate are diminished in polycythemia vera erythroid progenitor cells: a possible defect of phosphatase activity in polycythemia vera. Blood 1997; 89:3574-81.
64. Sui X, Krantz SB, Zhao Z. Identification of increased protein tyrosine phosphatase activity in polycythemia vera erythroid progenitor cells. Blood 1997; 90:651-7.
65. Asimakopoulos FA, Hinshelwood S, Gilbert JGR, et al. The gene encoding hematopoietic cell phosphatase (SHP-1) is structurally and transcriptionally intact in polycythemia vera. Oncogene 1997; 14:1215-22.
66. Shultz LD, Schweitzer PA, Rajan TV, et al. Mutations at the murine motheaten locus are within the hematopoietic cell protein-tyrosine phosphatase (Hcph) gene. Cell 1993; 73:1445-54.
67. Tsui HW, Siminovitch KA, de Souza L, Tsui FWL. Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene. Nat Genet 1993; 4:124-9.
68. Asimakopoulos FA, Gilbert JGR, Aldred MA, Pearson TC, Green AR. Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera. Blood 1996; 88:2690-8.
69. McKenna SL, Cotter TG. Functional aspects of apoptosis in hematopoiesis and consequences of failure. Adv Cancer Res 1997; 71:121-64.
70. Koury MJ, Bondurant MC. Control of red cell production: the roles of programmed cell death (apoptosis) and erythropoietin. Transfusion 1990; 30: 673-4.
71. Nuñez G, Clarke MF. The Bcl-2 family of proteins: Regulators of cell death and survival. Trends Cell Biol 1994; 4:399-405.
72. Benito A, Grillot D, Nuñez G, Fernandez-Luna JL. Regulation and function of Bcl-2 during differentiation-induced cell death in HL-60 promyelocytic cells. Am J Pathol 1995; 146:481-90.
73. Boise LH, Gonzalez-Garcia M, Postema CE, et al. Bcl-x, a Bcl-2-related gene that functions as a dominant regulator of apoptotic cell death. Cell 1993; 74:597-608.
74. Benito A, Silva M, Grillot D, Nuñez G, Fernandez-Luna JL. Apoptosis induced by erythroid differentiation of human erythroleukemia cell lines is inhibited by Bcl-xL. Blood 1996; 87:3837-43.
75. Silva M, Grillot D, Benito A, Richard C, Nuñez G, Fernandez-Luna JL. Erythropoietin can promote erythroid progenitor survival by repressing apoptosis through Bcl-xL and Bcl-2. Blood 1996; 88:1576-82.
76. Zhuang H, Niu Z, He TC, Patel SV, Wojchowski DM. Erythropoietin-dependent inhibition of apoptosis is supported by carboxyl-truncated receptor forms and blocked by dominant-negative forms of Jak2. J Biol Chem 1995; 270:14500-4.
77. Fujio Y, Kunisada K, Hirota H, Yamauchi-Takihara K, Hishimoto T. Signals through gp130 upregulate bcl-x gene expression via Stat1-binding cis-element in cardiac myocytes. J Clin Invest 1997; 99:2898-905.
78. Grillot DAM, Gonzalez-Garcia M, Ekhterae D, et al. Genomic organization, promoter region analysis, and chromosome localization of the mouse bcl-x gene. J Immunol 1997; 158:4750-7.
79. Ihle JN. STATs: Signal transducers and activators of transcription. Cell 1996; 84:331-4.
80. Muta K, Krantz SB. Apoptosis of human erythroid colony-forming cells is decreased by stem cell factor and insulin-like growth factor I as well as erythropoietin. J Cell Physiol 1993; 156:264-71.
81. D'Ambrosio C, Valentinis B, Prisco M, Reiss K, Rubini M, Baserga R. Protective effect of the insulin-like growth factor I receptor on apoptosis induced by okadaic acid. Cancer Res 1997; 57:3264-71.
82. Liu Q, Schacher D, Hurth C, Freund GG, Dantzer R, Kelley KW. Activation of phosphatidylinositol 3′-kinase by insulin-like growth factor-I rescues promyeloid cells from apoptosis and permits their differentiation into granulocytes. J Immunol 1997; 159:829-37.
83. Minshall C, Arkins S, Straza J, et al. IL-4 and insulin-like growth factor-I inhibit the decline in Bcl-2 and promote the survival of IL-3-deprived myeloid progenitors. J Immunol 1997; 159:1225-32.
84. Singleton JR, Dixit VM, Feldman EL. Type I insulin-like growth factor receptor activation regulates apoptotic proteins. J Biol Chem 1996; 271:31791-4.
85. Parrizas M, Saltiel AR, LeRoith D. Insulin-like growth factor-l inhibits apoptosis using the phosphatidylinositol 3′-kinase and mitogen-activated protein kinase pathways. J Biol Chem 1997; 272:154-61.
86. Kennedy SG, Wagner AJ, Conzen SD, et al. The PI 3-kinase/Akt signaling pathway delivers an anti-apoptotic signal. Genes Dev 1997; 11:701-13.
87. Silva M, Richard C, Benito C, Sanz C, Olalla I, Fernandez-Luna JL. Expression of Bcl-x in erythoid precurosrs from patients with polycythemia vera. N EnglJ Med 1998; (in press).