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
Diagnostic Criteria
The diagnosis of polycythemia vera is based on the world health organization criteria, which include high levels of hemoglobin, presence of JAK2617VF, hypercellularity on bone marrow biopsy, low serum erythropoietin levels, and endogenous erythroid colony formation in vitro.[12]
History and Symptoms
People with polycythemia vera usually asymptomatic. Symptoms of polycythemia vera include headache, fatigue, and pruritis.[13]
Physical Examination
Patients with polycythemia vera are usually well-appearing. Physical examination of patients with polycythemia vera is usually remarkable for skin bruising, fever, and splenomegaly.[13][14]
Laboratory Findings
Laboratory findings associated with the diagnosis of polycythemia vera include erythrocytosis, leukocytosis, andthrombocytosis.[13]
CT
Abdominal and chest CT scan may be helpful in the diagnosis of polycythemia vera. Findings on CT scan suggestive of polycythemia vera include enlarged lymph nodes, splenomegaly, and splanchnic venous thrombosis.[13][15]
Brain MRI
Brain MRI may be helpful in the detection of ischemic stroke in patients with polycythemia vera.[13][16]
Abdominal Ultrasound
Abdominal ultrasound may be helpful in the diagnosis of myeloproliferative neoplasm. Findings on abdominal ultrasound suggestive of myeloproliferative neoplasm include splenomegaly, abdominal fluid, and hepatic lesions.[17]
Other Imaging Studies
Other imaging studies for polycythemia vera include PET scan, which helps to detect metastasis in bone marrow and to follow up medical treatment.[18]
Other Diagnostic Studies
Other diagnostic studies for polycythemia vera include bone marrow aspiration and trephine biopsy.[13]
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.
- ↑ Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA; et al. (2007). "Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel". Blood. 110 (4): 1092–7. doi:10.1182/blood-2007-04-083501. PMID 17488875.
- ↑ 13.0 13.1 13.2 13.3 13.4 13.5 Canadian Cancer Society.2015.http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/polycythemia-vera/?region=ab
- ↑ Dust N, Daboval T, Guerra L (2011). "Evaluation and management of priapism in a newborn: A case report and review of the literature". Paediatr Child Health. 16 (1): e6–8. PMC 3043029. PMID 22211080.
- ↑ Lim BK (2013). "Clinics in diagnostic imaging (146). Polycythaemia vera (PV)". Singapore Med J. 54 (5): 289–91, quiz 292. PMID 23716157.
- ↑ Koennecke HC, Bernarding J (2001). "Diffusion-weighted magnetic resonance imaging in two patients with polycythemia rubra vera and early ischemic stroke". Eur J Neurol. 8 (3): 273–7. PMID 11328338.
- ↑ Khan J, Sykes DB (2014). "Case report: a 37-year-old male with telangiectasias, polycythemia vera, perinephric fluid collections, and intrapulmonary shunting". BMC Hematol. 14 (1): 11. doi:10.1186/2052-1839-14-11. PMC 4138393. PMID 25143825.
- ↑ Agool A, Glaudemans AW, Boersma HH, Dierckx RA, Vellenga E, Slart RH (2011). "Radionuclide imaging of bone marrow disorders". Eur J Nucl Med Mol Imaging. 38 (1): 166–78. doi:10.1007/s00259-010-1531-0. PMC 3005118. PMID 20625724.