Polycythemia vera overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]
Overview
Primary polycythemia, often called polycythemia vera (PCV), polycythemia rubra vera (PRV), or erythremia, occurs when excess red blood cells are produced as a result of an abnormality of the bone marrow. Often, excess white blood cells and platelets are also produced. Polycythemia vera is classified as a myeloproliferative neoplasm.
Historical Perspective
In 2005, a mutation in the JAK2 kinase (V617F) was found in multiple patients with myeloprolifrative neoplasm (including polycythemia vera) by different researchers.[1]
Classification
Polycythemia vera is a subtype of myeloproliferative neoplasm. Myeloproliferative neoplasm may be classified according to the World Health Organization into eight subtypes: chronic myelogenous leukemia, chronic neutrophilic leukemia, polycythemia vera, primary myelofibrosis, essential thrombocythemia, chronic eosinophilic leukemia, mastocytosis, and myeloproliferative neoplasms, unclassifiable.[2]
Pathophysiology
Polycythemia vera arises from hematopoietic stem cells, which give rise to erythrocytes cells that are normally involved in delivering oxygen to the body tissue.[3]
Causes
Polycythemia vera is caused by a mutation in the JAK2 kinase (V617F) gene.[4]
Differentiating Polycythemia Vera from other Diseases
Polycythemia vera must be differentiated from chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis.[5][6]
Epidemiology and Demographics
The incidence of polycythemia vera is approximately 0.7 to 2.6 per 100,000 individuals in the US.[7]
Risk factors
Common risk factors in the development of polycythemia vera are history of thrombosis and old age ( 65 year old and older).[8]
Screening
Screening for polycythemia vera by cell-based quantitative assays for JAK2V617F mutation is recommended among patients with erythrocytosis, thrombocytosis, and monocytosis.[9][10]
Natural History, Complications and Prognosis
If left untreated, patients with polycythemia vera may progress to develop headache, fatigue, and dyspnea. Common complications of polycythemia vera include bleeding, thrombosis, tinnitus , and splenomegaly. Prognosis is generally good with treatment, and the median survival for patients with polycythemia vera is around 10.9 to 27.8 years.[11]
Diagnosis
References
- ↑ Gäbler K, Behrmann I, Haan C (2013). "JAK2 mutants (e.g., JAK2V617F) and their importance as drug targets in myeloproliferative neoplasms". JAKSTAT. 2 (3): e25025. doi:10.4161/jkst.25025. PMC 3772115. PMID 24069563.
- ↑ Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A; et al. (2009). "The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes". Blood. 114 (5): 937–51. doi:10.1182/blood-2009-03-209262. PMID 19357394.
- ↑ Jamieson CH, Gotlib J, Durocher JA, Chao MP, Mariappan MR, Lay M; et al. (2006). "The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation". Proc Natl Acad Sci U S A. 103 (16): 6224–9. doi:10.1073/pnas.0601462103. PMC 1434515. PMID 16603627.
- ↑ Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S; et al. (2005). "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders". Lancet. 365 (9464): 1054–61. doi:10.1016/S0140-6736(05)71142-9. PMID 15781101.
- ↑ Tefferi A, Barbui T (2015). "Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management". Am J Hematol. 90 (2): 162–73. doi:10.1002/ajh.23895. PMID 25611051.
- ↑ Sanchez S, Ewton A (2006). "Essential thrombocythemia: a review of diagnostic and pathologic features". Arch Pathol Lab Med. 130 (8): 1144–50. doi:10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2. PMID 16879015.
- ↑ National Cancer Institute. Polycythemia vera 2015.http://seer.cancer.gov/seertools/hemelymph/51f6cf57e3e27c3994bd538d/
- ↑ Barbui T, Carobbio A, Rumi E, Finazzi G, Gisslinger H, Rodeghiero F; et al. (2014). "In contemporary patients with polycythemia vera, rates of thrombosis and risk factors delineate a new clinical epidemiology". Blood. 124 (19): 3021–3. doi:10.1182/blood-2014-07-591610. PMID 25377561.
- ↑ The Asco Post. JAK2 and MPL Mutation Screening: What Are the Indications and How to Interpret the Results. http://www.ascopost.com/issues/february-15-2012/jak2-and-mpl-mutation-screening-what-are-the-indications-and-how-to-interpret-the-results.aspx
- ↑ Tefferi A, Noel P, Hanson CA (2011). "Uses and abuses of JAK2 and MPL mutation tests in myeloproliferative neoplasms a paper from the 2010 William Beaumont hospital symposium on molecular pathology". J Mol Diagn. 13 (5): 461–6. doi:10.1016/j.jmoldx.2011.05.007. PMC 3157620. PMID 21723416.
- ↑ Tefferi A, Rumi E, Finazzi G, Gisslinger H, Vannucchi AM, Rodeghiero F; et al. (2013). "Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study". Leukemia. 27 (9): 1874–81. doi:10.1038/leu.2013.163. PMC 3768558. PMID 23739289.