Best Practice & Research Clinical Haematology
Volume 19, Issue 3 , Pages 471-482 , September 2006

Idiopathic erythrocytosis and other non-clonal polycythemias

  • Guido Finazzi, MD

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.:+39 035 269 493; Fax: +39 035 266 147.

References 

  1. Pearson TC, Messinezy M. Idiopathic eryhtrocytosis, diagnosis and clinical management. Pathologie–Biologie. 2001;49:170–177
  2. Modan B, Modan M. Benign erythrocytosis. British Journal of Haematoloy. 1968;14:375–381
  3. Najean Y, Triebel F, Dresch C. Pure erythrocytosis: reappraisal of a study of 51 cases. American Journal of Hematology. 1981;10:129–136
  4. T.C. Pearson, M. Messinezy, N. Westwood, A polycythemia vera update: diagnosis, pathobiology and treatment. In: Hematology ASH Education Program Book, 2000, p. 51–68
  5. Blacklock HA, Royle GA. Idiopathic erythrocytosis—a declining entity. British Journal of Haematoloy. 2001;115:774–781
  6. Prchal JT. Classification and molecular biology of polycythemias (erythrocytoses) and thrombocythosis. Hematology/Oncology Clinics of North America. 2003;17:1151–1158
  7. Ruggeri M, Tosetto A, Frezzato M, Rodeghiero F. The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. Annals of Internal Medicine. 2003;139:470–475
  8. Tefferi A. Polycythemia vera: a comprehensive review and clinical recommendations. Mayo Clinic Proceedings. 2003;78:174–194
  9. Moore-Gillon JC, Treacher DF, Gaminara EJ, et al. Intermittent hypoxia in patients with unexplained polycythemia. British Medical Journal. 1986;93:588–590
  10. Smith JR, Landaw SA. Smokers' polycythemia. New England Journal of Medicine. 1978;298:6–10
  11. Prchal JT. Polycythemia vera and other primary polycythemias. Current Opinion in Hematology. 2005;12(2):112–116
  12. Finazzi G, Ruggeri M, Marconi M, et al. The natural history of idiopathic erythrocytosis: a cohort study of 74 patients. Blood. 2004;104:421a
  13. Pearson TC, Guthrie DL, Simpson J, et al. Interpretation of measured red cell mass and plasma volume in adults: expert panel on radionuclides of the international council for standardization in hematology. British Journal of Haematoloy. 1995;89:748–756
  14. Pearson TC, Wethereley-Mein G. The course and complications of idiopathic eryhtrocytosis. Clinical and Laboratory Haematology. 1979;1:189–196
  15. Partanen S, Huvonen E, Ikkala E, Ruutu T. Spontaneous erythroid colony formation in the differential diagnosis of erythrocytosis. European Journal of Haematology. 1989;42:327–330
  16. Berglund S, Zettervall O. Incidence of polycythemia vera in a defined population. European Journal of Haematology. 1992;48:20–26
  17. Mossuz P, Girodon F, Donnard M. Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. Haematologica. 2004;89:1194–1198
  18. Bench AJ, Nacheva EP, Champion KM, Green AR. Molecular genetics and cytogenetics of myeloproliferative disorders. In:  Green AR,  Pearson TC editor. Myeloproliferative Disorders. Bailliere's Clinical Haematology. 11(4):1998;p. 819–848
  19. Shih LY, Lee CT, Ou YC. Prediction of clinical course in patients with idiopathic erythrocytosis by endogenous erythroid colony assay but not by serum erythropoietin levels. Experimental Hematology. 1997;25:288–292
  20. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144–1148
  21. Lichtman MA, Murphy MS, Adamson JW. Detection of mutant hemoglobins with altered affinity for oxygen. A simplified technique. Annals of Internal Medicine. 1976;84:517–520
  22. Prchal JT, Gregg XT. Red cell enzymopathies. In:  Hoffman R,  Benz E editor. Hematology: Basic Principles and Practice. 4th edn. 2005;
  23. Ang SO, Chen H, Gordeuk VR, et al. Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells, Molecules & Diseases. 2002;28:57–62
  24. Gregg XT, Prchal JT. Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. Current Hematology Reports; in press.
  25. Ang SO, Chen H, Hirota K, et al. Congenital chuvash polycythemia: altered oxygen homeostasis due to homozygosity for a hypomorphic VHL allele. Nature Genetics. 2002;32(4):614–621
  26. Pastore Y, Jedlickova K, Guan YL, et al. Mutations of von Hippel-Lindau tumor suppressor gene and congenital polycythemia. American Journal of Human Genetics. 2003;73:412–419
  27. Pastore YD, Jelinek JJ, Ang SO, et al. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood. 2003;101:1591–1595
  28. Kiladjian J-J, Gardin C, Renoux M. Long-term outcomes of polycythemia vera patients treated with pipobroman as initial therapy. The Hematology Journal. 2003;4:198–207
  29. Giraudier S, Najean Y, Rain JD. Pure erythrocytosis: report of a one institution cohort of 130 patients. Blood. 1998;92(supplement 1):425a
  30. Thomas DJ, Du Boulay GH, Marshall J, et al. Cerebral blood flow in polycythemia. The Lancet. 1977;ii:161–163
  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. Liu EL, Jelinek JJ, Pastore YD, et al. Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and EEC assay. Blood. 2003;101:3294–3301
  33. Gordeuk VR, Sergueeva AI, Miasnikova GY, et al. Congenital disorder of oxygen-sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood. 2004;103(10):3924–3932
  34. Sokol L, Luhovy M, Prchal JF, et al. Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood. 1995;86:15–22
  35. Landolfi R, Marchioli R, Kutti J, et al. Efficacy and safety of low-dose aspirin in polycythemia vera. New England Journal of Medicine. 2004;350:114–124

PII: S1521-6926(05)00091-5

doi: 10.1016/j.beha.2005.07.006

Best Practice & Research Clinical Haematology
Volume 19, Issue 3 , Pages 471-482 , September 2006