Skip to main content
SpringerLink
Log in

Polycythemia Vera

  • Living reference work entry
  • First Online:
Encyclopedia of Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

  • 160 Accesses

Synonyms

Polycythaemia rubra vera; Chronic erythraemia

Definition

Polycythemia vera (PV) is an acquired, autonomous, and erythropoietin-independent proliferation of a transformed hematopoietic stem cell which is in almost all cases driven by a gain-of-function mutation of the JAK2 kinase gene. Because the JAK2 kinase is involved in signal transduction of diverse hematopoietic growth factor receptors, all three hematopoietic lineages are affected and show exaggerated proliferation (“panmyelosis”). Generally, erythrocyte proliferation and hence erythrocytosis represent the leading clinical manifestation. According to the 2016 revision of the WHO classification, three diagnostic criteria are required (Arber et al. 2016; Thiele et al. 2016). In addition to elevation of hemoglobin values (>16.5 g/dL males, >16.0 g/dL females, or elevated red blood cell mass), JAK2mutation and panmyelosis in bone marrow histology have to be present in order to settle the diagnosis of PV. In case that one...

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References and Further Reading

  • Adamson, J. W., Fialkow, P. J., Murphy, S., Prchal, J. F., & Steinmann, L. (1976). Polycythemia vera: Stem-cell and probable clonal origin of the disease. The New England Journal of Medicine, 295, 913–916.

    Article  CAS  Google Scholar 

  • Arber, D. A., Orazi, A., Hasserjian, R., Thiele, J., Borowitz, M. J., Le Beau, M. M., Bloomfield, C. D., Cazzola, M., & Vardiman, J. W. (2016). The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood, 127, 2391–2405. https://doi.org/10.1182/blood-2016-03-643544.

    Article  CAS  PubMed  Google Scholar 

  • Barbui, T., Tefferi, A., Vannucchi, A. M., et al. (2018). Philadelphia chromosome-negative classical myeloproliferative neoplasms: Revised management recommendations from European LeukemiaNet. Leukemia, 32, 1057–1069. https://doi.org/10.1038/s41375-018-0077-1.

    Article  PubMed  PubMed Central  Google Scholar 

  • Barosi, G., Mesa, R. A., Thiele, J., Cervantes, F., Campbell, P. J., Verstovsek, S., Dupriez, B., Levine, R. L., Passamonti, F., Gotlib, J., Reilly, J. T., Vannucchi, A. M., Hanson, C. A., Solberg, L. A., Orazi, A., Tefferi, A., & International Working Group for Myelofibrosis Research and Treatment (IWG-MRT). (2008). Proposed criteria for the diagnosis of post-polycythemia vera and post-essential thrombocythemia myelofibrosis: A consensus statement from the International Working Group for myelofibrosis research and treatment. Leukemia, 22, 437–438.

    Article  CAS  Google Scholar 

  • Bartels, S., Faisal, M., Büsche, G., Schlue, J., Kreipe, H., & Lehmann, U. (2018). Fibrotic progression in Polycythemia vera is associated with early concomitant driver-mutations besides JAK2. Leukemia, 32, 556–558.

    Article  CAS  Google Scholar 

  • Bellanne-Chantelot, C., Chaumarel, I., Labopin, M., Bellanger, F., Barbu, V., De Toma, C., Delhommeau, F., Casadevall, N., Vainchenker, W., Thomas, G., & Najman, A. (2006). Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood, 108, 346–352.

    Article  CAS  Google Scholar 

  • Deininger, M. W., Kopecky, K. J., Radich, J. P., Kamel-Reid, S., Stock, W., Paietta, E., Emanuel, P. D., Tallman, M., Wadleigh, M., Larson, R. A., Lipton, J. H., Slovak, M. L., Appelbaum, F. R., & Druker, B. J. (2015). Imatinib 800 mg daily induces deeper molecular responses than imatinib 400 mg daily: Results of SWOG S0325, an intergroup randomized PHASE II trial in newly diagnosed chronic phase chronic myeloid leukaemia. British Journal of Haematology, 164, 223–232.

    Article  Google Scholar 

  • Hickey, M. M., Lam, J. C., Bezman, N. A., Rathmell, W. K., & Simon, M. C. (2007). Von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. The Journal of Clinical Investigation, 117, 3879–3889.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Hussein, K., Bock, O., Theophile, K., von Neuhoff, N., Buhr, T., Schlué, J., Büsche, G., & Kreipe, H. (2009). JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. Experimental Hematology, 37, 1186–1193.e7.

    Article  CAS  Google Scholar 

  • Kralovics, R., & Prchal, J. T. (2000). Congenital and inherited polycythemia. Current Opinion in Pediatrics, 12, 29–34.

    Article  CAS  Google Scholar 

  • Kreipe, H., Jaquet, K., Felgner, J., Radzun, H. J., & Parwaresch, M. R. (1991). Clonal granulocytes and bone marrow cells in the cellular phase of agnogenic myeloid metaplasia. Blood, 78, 1814–1817.

    CAS  PubMed  Google Scholar 

  • Ladroue, C., Hoogewijs, D., Gad, S., Carcenac, R., Storti, F., Barrois, M., Gimenez-Roqueplo, A. P., Leporrier, M., Casadevall, N., Hermine, O., Kiladjian, J. J., Baruchel, A., Fakhoury, F., Bressac-de Paillerets, B., Feunteun, J., Mazure, N., Pouysségur, J., Wenger, R. H., Richard, S., & Gardie, B. (2012). Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. Haematologica, 97, 9–14.

    Article  CAS  Google Scholar 

  • Lundberg, P., Karow, A., Nienhold, R., Looser, R., Hao-Shen, H., Nissen, I., Girsberger, S., Lehmann, T., Passweg, J., Stern, M., Beisel, C., Kralovics, R., & Skoda, R. C. (2014). Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood, 123, 2220–2228.

    Article  CAS  Google Scholar 

  • Milosevic, J. D., & Kralovics, R. (2013). Genetic and epigenetic alterations of myeloproliferative disorders. International Journal of Hematology, 97, 183–197.

    Article  CAS  Google Scholar 

  • Orvain, C., Joly, P., Pissard, S., Badiou, S., Badens, C., Bonello-Palot, N., Couque, N., Gulbis, B., & Aguilar-Martinez, P. (2017). Diagnostic approach to hemoglobins with high oxygen affinity: Experience from France and Belgium and review of the literature. Annales de Biologie Clinique, 75, 39–51.

    PubMed  Google Scholar 

  • Soliman, D. S., & Yassin, M. (2018). Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. Hematology Reports, 10, 7221.

    Article  Google Scholar 

  • Tefferi, A. (2016). Myeloproliferative neoplasms: A decade of discoveries and treatment advances. American Journal of Hematology, 91, 50–58. https://doi.org/10.1002/ajh.24221.

    Article  CAS  PubMed  Google Scholar 

  • Thiele, J., Kvasnicka, H. M., Orazi, A., Tefferi, A., Birgegard, G., & Barbui, T. (2016). Polycythaemia vera. In S. H. Swerdlow, E. Campo, N. Lee Harris, E. S. Jaffe, S. A. Pileri, H. Stein, J. Thiele, D. Arber, R. P. Hasserjian, M. M. Le Beau, A. Orazi, & R. Siebert (Eds.), WHO Classification of Haematopoietic and Lymphoid Tissues (pp. 39–43). Lyon: IARC Press.

    Google Scholar 

  • van Wijk, R., Sutherland, S., Van Wesel, A. C., Huizinga, E. G., Percy, M. J., Bierings, M., & Lee, F. S. (2010). Erythrocytosis associated with a novel missense mutation in the HIF2A gene. Haematologica, 95, 829–832.

    Article  Google Scholar 

  • Vannucchi, A. M., & Harrison, C. N. (2017). Emerging treatments for classical myeloproliferative neoplasms. Blood, 129, 693–703.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Pathology Hannover Medical School, Hannover, Germany

    Hans H. Kreipe

Authors
  1. Hans H. Kreipe
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Hans H. Kreipe .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Kreipe, H.H. (2019). Polycythemia Vera. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_3821-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-28845-1_3821-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation