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Myeloproliferative Disease

Genetically heterogeneous origins of idiopathic erythrocytosis

Pages 131-139 | Published online: 04 Sep 2013

  • McMullin MF, Bareford D, Campbell P, Green AR, Harrison C, Hunt B, Oscier D, Polkey MI, Reilly JT, Rosenthal E, Ryan K, Pearson TC, Wilkins B. Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis. Br J Haematol 2005;130:174–195.
  • Percy MJ, Jones FGC, Lappin TRJ, McMullin MF. Mutations in the VHL gene are the major identified cause of inherited erythrocytosis. Blood 2005;106:169a.
  • Wang GL, Jiang BH, Rue EA, Semenza GL. Hypoxia-inducible factor 1 is a basic-helix-loop-helix-pas heterodimer regulated by cellular 02 tension. Proc Natl Acad Sci U S A. 1995;92:5510–5514.
  • Blanchard KL,, Acquaviva AM, Galson DL, Bunn HF. Hypoxic induction of the human erythropoietin gene: Cooperation between the promoter and enhancer, each of which contains steroid receptor response elements. Mol Cell Biol 1992;12:5373–5385.
  • Semenza GL. Hypoxia-inducible factor 1: Oxygen homeosta-sis and disease pathophysiology. Trends Mol Med 2001;7:345–350.
  • Ratcliffe PJ. From erythropoietin to oxygen: Hypoxia-inducible factor hydroxylases and the hypoxia signal pathway. Blood Purif 2002;20:445–450.
  • Card PB, Erbel PJ, Gardner KH. Structural basis of ARNT PAS-B dimerization: Use of a common beta sheet interface for hetero-homodimerization. J Mol Biol 2005;353:664–677.
  • Epstein AC, Gleadle JM, McNeill LA, Hewitson KS, O'Rourke J, Mole DR, Mukherji M, Metzen E, Wilson MI, Dhanda A, Tian YM, Masson N, Hamilton DL, Jaakkola P, Barstead R, Hodgkin J, Maxwell PH, Pugh CW, Schofield CJ, Ratcliffe PJC. Elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell 2001;107: 43–54.
  • Bruick RK, McKnight SL. A conserved family of proly1-4-hydroxylases that modify HIF. Science 2001;294:1337–1340.
  • Ivan M, Haberberger T, Gervasi DC, Michelson KS, Gunzler V, Kondo K, Yang H, Sorokina I, Conaway RC, Conaway JW, Kaelin WG, Jr. Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor. Proc Natl Acad Sci U S A 2002;99:13459–13464.
  • Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, Salic A, Asara JM, Lane WS, Kaelin WG, Jr. HIF-ix targeted for VHL-mediated destruction by proline hydroxylation: Impli-cations for 02 sensing. Science 2001;292: 464–468.
  • Jaakkola P, Mole DR, Tian YM, Wilson MI, Gielbert J, Gaskell SJ, Kriegsheim Av A, Hebestreit HF, Multherji M, Schofield CJ, Maxwell PH, Pugh CW, Ratcliffe PJ. Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by 02-regulated prolyl hydroxylation. Science 2001;292: 468–472.
  • Masson N, Wiliam C, Maxwell PH, Pugh CW, Ratcliffe PJ. Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxy-lation. EMBO J 2001;20:5197–5206.
  • Yu F, White SB, Zhao Q, Lee FS. HIF-lalpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation. Proc Natl Acad Sci U S A 2001;98:9630–9635.
  • Kamura T, Maenaka K, Kotoshiba S, Matsumoto M, Kohda D, Conaway RC, Conaway JW, Nakayama KI. VHL-box and SOCS-box domains determine binding specificity for Cu12-Rbxl and Cu15-Rbx2 modules of ubicjitin ligases. Genes Dev 2004;18:3055–3065.
  • Kaelin WG, Jr. The von Hippel-Lindau protein, HIF hydroxylation, and oxygen sensing. Biochem Biophys Res Commun 2005;338:627–638.
  • Constantinescu SN, Ghaffari S, Lodish HF. The erythropoie-tin receptor: Structure, activation and intracellular signal transduction. TEM 1999;10:18–23.
  • Wormald S, Hilton DJ. Inhibitors of cytokine signal transduc-tion. J Biol Chem 2004;279:821–824.
  • Gadina M, Hilton D, Johnston JA, Morinobu A, Lighvani A, Zhou Y-J, Visconti R, O'Shea JJ. Signaling by type I and II cytokines receptors: Ten years after. Curr Opin Immunol 2001;13:363–373.
  • Walrafen P, Verdier F, Kadri Z, Chretien S, Lacombe C, Mayeux P. Both proteasomes and lysosomes degrade the activated erythropoietin receptor. Blood 2005;105:600–608.
  • Sasaki A, Yasukawa H, Shouda T, Kitamura T, Dikic I, Yoshimura A. CIS/SOCS-3 suppresses erythropoietin (Epo) signaling by binding the EPO receptor and JAK2. J Biol Chem 2000;275:29338–29347.
  • Li Y, He X, Schembri-King J, Jakes S, Hayashi J. Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation. J Immunol 2000;164: 5199–5206.
  • Tong W, Zhang J, Lodish HF. Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. Blood 2005;105: 4604–4612.
  • Juvonen E, Ikkala E, Fyhrquist F, Ruutu T. Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. Blood 1991;78:3066–3089.
  • de la Chapelle A, Sistonen P, Lehvaslaiho H, Ikkala E, Juvonen E. Familial erythrocytosis genetically linked to erythropoietin receptor gene. Lancet 1993;341:82–84.
  • de la Chapelle A, Träskelin A-L, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited human erythrocytosis. Proc Nat! Acad Sci 1993;90:4495–4499.
  • Arcasoy MO, Karayal AF, Segal HM, Sinning JG, Forget BG. A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood 2002;99:3066–3069.
  • Petersen BK, Hokland P, Petersen GB, Nyvold CG. Erythropoietin receptor defect: A cause of primary poly-cythaemia. Br J Haematol 2004;125:537–539.
  • Kralovics R, Divoka M, Stopka T, Prchal JT. Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia. Blood 1997;90S:12a.
  • Kralovics R, Sokol L, Prchal TT. Absence of polycythemia phenotype in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. J Clin Path 1998;102:124–129.
  • Cario H, Rives Sola S, Neusuess A, Kohne E, Schwarz K. Molecular analyses in familial and sporadic congenital primary erythrocytosis. Haematologica 2006;91 (s1):352–353.
  • Kralovics R, Indrak K, Stopka T, Berman B, Prchal JF, Prchal TT. Two new EPO receptor mutations: Truncated Epo receptors are most frequently associated with primary familial and congenital polycythemias. Blood 1997;90:2057–2061.
  • Watowich SS, Xie X, Klingmuller U, Kere J, Lindlof M, Berglund S, de la Chapelle A. Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. Blood 1999;94:2530–2532.
  • Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia: Frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 1995;86:15–22.
  • Arcasoy MO, Degar BA, Harris KW, Forget BG. Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood 1997;89:4628–4635.
  • Furukawa T, Narita M, Sakaue M, Otsuka T, Kuroha T, Masuko M, Azegami T, Kishi K, Takahashi M, Utsumi J, Koike T, Aizawa Y. Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor. Br J Haematol 1997;99:222–227.
  • Percy MJ, McMullin MF, Rogues AWW, Westwood NB, Acharya J, Hughes AE, Lappin TRJ, Pearson TC. Erythro-cytosis due to a mutation in the erythropoietin receptor gene. Br J Haematol 1998;100:407–410.
  • Le Couedic J-P, Mitjavila M-T, Villeval J-L, Feger F, Gobert S, Mayeux P, Casadevall N, Vainchenker W. Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. Blood 1996;87:1502–1511.
  • Sokol L, Prchal JF, D'Andrea A, Rado TA, Prchal JT. Mutation in the negative regulatory element of the erythro-poietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol 1994;22:447–453.
  • Kralovics R, Sokol L, Broxson EH, Jr, Prchal JT. The erythropoietin receptor gene is not linked with the poly-cythemia phenotype in a family with autosomal dominant primary polycythemia. Pro c Assoc Am Physicians 1997;109:580–585.
  • Arcasoy MO, Harris KW, Forget BG. A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of JAK2 and Stat5 inactivation. Exp Hematol 1999;27: 63–74.
  • Bourantas LK, Chatzikyriakidou A, Dasoula A, Syrrou M, Bourantas KL, Georgiou I. Absence of mutations of the EPO-receptor gene in Greek patients with familiar polycythemia. Eur J Haematol 2006;76:537–538.
  • Kralovics R, Prchal y-r. Genetic heterogeneity of primary familial and congenital polycythemia. Am J Hematol 2001;68:115–121.
  • Jedlickova K, Stockton DW, Prchal JT. Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood Cells Mol Dis 200331:327–331.
  • Baxter JE, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365: 1054–1061.
  • James C, Ugo V, Le Couedic J-P, Staerk J, Delhommeau F, Lacout C, Garcon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval IL, Constantinescu SN, Casadevall N, Vainchenker W. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005;434:1144–1148.
  • Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand PH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NC. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005;106:2158–2162.
  • 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 Eng J Med 2005;352: 1779–1790.
  • Lippert E, Boissinot M, Kralovics R, Girodon F, Dobo Praloran V, Boiret-Dupre N, Skoda RC, Hermouet S. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thromobcythemia and polycythemia vera. Blood 2006;108:1865–1867.
  • Rossi D, Cortini F, Deambrogi C, Barbieri C, Cerri M, Franceschetti S, Conconi A, Capello D, Gaidano G. Usefulness of JAK2V617F mutation in distinguishing idio-pathic erythrocytosis from polycythemia vera. Leuk Res epublished 2007;31: 97–101.
  • Percy MJ, Jones FGC, Green AR, Reilly JT, McMullin MF. The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. Haematologica 2006;91: 413–414.
  • Finazzi G, Guerini V, Ruggeri M, Bernardi M, Rambaldi A, Rodeghiero F, Barbui T. Low prevalence of JAK2 Va1617Phe mutation in patients with idiopathic erythrocytosis. Blood 2005;106:726a.
  • Verstovsek S, Silver RT, Cross NCP, Tefferi A. JAK2V617F mutational frequency in polycythemia vera: 100%, 90%, or less? Leukemia 2006;211:2067.
  • Sergeyeva A, Gordeuk VR, Tokarev YN, Sokol L, Prchal JF, Prchal JT. Congenital polycythemia in Chuvashia. Blood 1997;89:2148–2154.
  • Ang SO, Chen H, Gordeuk VR, Sergueeva Al, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JF. Endemic polycythemia in Russia: Mutation in the VHL gene. Blood Cells Mol Dis 2002;28: 57–62.
  • Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva Al, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT. Disruption of oxygen homeostatis underlies congenital Chuvash polycythemia. Nat Genet 2002;32:614–621.
  • Pastore YD, Jelinek J, Ang S, Guan Y, Lui E, Jedlickova K, Krishnamurti L, Prchal JT. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 2003;101:1591–1595.
  • Percy MJ, McMullin MF, Jowitt SN, Potter M, Treacy M, Watson WH, Lappin TRJ. Chuvash-type congenital poly-cythemia in 4 families of Asian and Western European ancestry. Blood 2003;102: 1097–1099.
  • Pastore YD, Jedlickova K, Guan Y, Lui E, Fahner J, Hasle H, Prchal JF, Prchal JT. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Am J Hum Genet 2003;73:412–419.
  • Cario H, Schwarz K, Jorch N, Kyank U, Petrides PE, Schneider DT, Uhle R, Debatin K-M, Kohne E. Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable con-genital erythrocytosis. Haematologica 2005;90:19–24.
  • Bento MC, Chang K-T, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JF. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Landau gene: Five new Caucasian patients. Haematologica 2005;90:128–129.
  • Perrotta S, Nobili B, Ferraro M, Migliaccio C, Borriello A, Cucciolla V, Martinelli V, Rossi F, Punzo F, Cirillo P, Parisi G, Zappia V, Rotoli B, Della Ragiona F. Von Hippel Lindau-dependent polycythemia is endemic on the island of Ischia: Identification of a novel cluster. Blood 2006;107:514–519.
  • Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, McMullin MF, Polyakova LA, Ang SO, Pastore YD, Jedlickova K, Lappin TRJ, Gordeuk V, Prchal JF. The worldwide distribution of the VHL 598C > T mutation indicates a single founding event. Blood 2004;103:1937–1940.
  • Gordeuk VR, Stockon DW, Prchal IT. Congenital polycythe-mias/erythrocytoses. Haematologica 2005;90:109–116.
  • Olschwang S, Richard S, Boisson C, Giraud S, Laurent-Puig P, Resche F, Thomas G. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Human Mutation 1998;12:424–430.
  • Weirich G, Klein B, Wohl T, Engelhardt D, Brauch H. VHL2C phenotype is a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. J Chin Endocrinol Metab 2002;87: 5241–5246.
  • Clifford SC, Cockman ME, Smallwood AC, Mole DR, Woodward ER, Maxwell PH, Ratcliffe PJ, Maher ER. Contrasting effects on HIP-la regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet 2001;10:1029–1038.
  • Percy MJ, Jones FGC, Lappin TRJ, McMullin MF. Diverse molecular defects associated with idiopathic erythrocytosis reflect the heterogeneity of this disorder. Haematologica 2006;91(s1):209–210.
  • Randi ML, Murgia A, Putti MC, Martella M, Casarin A, Opocher G, Fabris F. Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. Haeamtologica 2005;90:689–691.
  • Hon W-C, Wilson MI, Harlos K, Claridge TDW, Schofield CJ, Pugh CW, Maxwell PH, Ratcliffe PJ, Staurt DI, Jones EY. Structural basis for the recognition of hydroxproline in HIF-1 by pVHL. Nature 2002;417: 975–978.
  • Min JH, Yang H, Ivan M, Gertler F, Kaelin WG, Jr, Pavletich NP. Structure of an HIF- 1 alpha-pVHL complex: Hydroxypro-line recognition in signaling. Science 2002;296: 1886–1889.
  • Percy MJ, Mooney SM, McMullin MF, Flores A, Lappin TRJ, Lee FS. A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-la (HIF-1a) does not impair Pro-564 hydroxylation. Mol Cancer 2003;2:31–37.
  • Fu XS, Choi E, Bubley GJ, Balk SP. Identification of hypoxia-inducible factor- 1 alpha (HIF-1a) polymorphism as a mutation in prostate cancer that prevents normoxia-induced degradation. Prostate 2005;63:215–221.
  • Prior SJ, Hagberg JM, Phares DA, Brown MD, Fairfull L, Ferrell RE, Roth SM. Sequence variation in hypoxia-inducible factor 1 alpha (HIF-1«): Association with maximal oxygen consumption. Physiol Genomics 2003;15: 20–26.
  • Tanimoto K, Yoshiga K, Eguchi H, Kaneyasu M, Ukon K, Kumazaki T, Oue N, Yasui W, Imai K, Nakachi K, Poellinger L, Nishiyama M. Hypoxia-inducible factor-1 alpha poly-morphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis 2003;24: 1779-1783.
  • Yamada N, Horikawa Y, Oda N, Iizuka K, Shihara N, Kishi S, Takeda J. Genetic variation in the hypoxia-inducible factor-1 alpha gene is associated with type 2 diabetes in Japanese. J Clin Endocrinol Metab 2005;90: 5841–5847.
  • Resar JR, Roguin A, Voner J, Nasir K, Hennebry TA, Miller JM, Ingersoll R, Kasch LM, Semenza GL. Hypoxia-inducible factor lalpha polymorphism and coronary collaterals in patients with ischemic heart disease. Chest 2005;128: 787–791.
  • Anastasiadis AG, Ghafar MA, Salomon L, Vacherot F, Benedit P, Chen MW, Shabsigh A, Burchardt M, Chopin DK, Shabsigh R, Buttyan R. Human hormone-refractory prostate cancers can harbor mutations in the 02-dependent degradation domain of hypoxia inducible factor- 1 alpha (HIF- 1 alpha). J Cancer Res Clin Oncol 2002;128: 358–362.
  • Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, McMullin MF, Lee FS. A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Nat! Acad Sci U S A 2006;103:654–659.
  • McDonough MA, Li V, Flashman E, Chowdhury R, Mohr C, Lienard BMR, Zondlo J, Oldham NJ, Clifton IJ, Lewis J, McNeill LA, Kurzeja RJM, Hewitson KS, Yang E, Jordan S, Syed RS, Schofield CJ. Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2). Proc Natl Acad Sci U S A 2006;103: 9814–9819.
  • Taylor MS. Characterization and comparative analysis of the ELGN gene family. Gene 2001;275:125–132.
  • Whaley JM, Naglich J, Gelbert L, Hsia YE, Lamiell JM, Green JS, Collins D, Neumann HP, Laidlaw J, Li FP, et al. Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet 1994;55:1092–1102.
  • Gordeuk VR, Sergueeva AT, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL, Butman JA, Jedlickova K, Prchal JT, Polyakova LA. Congenital disorder of oxygen sensing: Association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood 2004;103:3924–3932.
  • Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, Leedham DL, Liu C, Maxwell PH, McMullin MF, McNamara CJ, Percy MJ, Pugh CW, Ratcliffe PJ, Talbot NP, Treacy M, Robbins PA. Mutation of von Hippel-Lindau tumor suppressor and human cardiopulmonary physiology. PLoS Med 2006;3:1178–1186.
  • Rathmell WK, Hickey MM, Bezman NA, Chmielecki CA, Carrawary NC, Simon MC. In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. Cancer Res 2004;64:8595–8603.
  • Kato H, Inoue T, Asanoma K, Nishimura C, Matsuda T, Wake N. Induction of human endometrial cancer cell senescence through modulation of HIF- 1 a activity by EGLN1. Int J Cancer 2006;118:1144–1153.
  • Lee FS, Percy MJ, McMullin MF. Oxygen sensing: Recent insights from idiopathic erythrocytosis. Cell Cycle 2006;5:941–945.

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