Polycythemia vera laboratory tests
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]; Shyam Patel [3]
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Overview
Laboratory findings associated with the diagnosis of polycythemia vera include erythrocytosis, leukocytosis, and thrombocytosis. The most sensitive test for polycythemia vera is JAK2 V617F mutation testing in the peripheral blood. A specific finding in patients with polycythemia vera is low erythropoietin level.
Laboratory Findings
Laboratory findings associated with polycythemia vera include:[1][2][3][4][5][6][7]
- Erythrocytosis: This is a hallmark laboratory finding in polycythemia vera.
- Increased hemoglobin: Hemoglobin is usually more than 16.5 g/dl. Elevated hemoglobin corresponds with elevated red blood cell mass.
- Increased granulocytes of all types: Polycythemia vera is characterized by panmyelosis (elevation of cell counts of all 3 cell lines).
- Increased basophils and eosinophils
- Thrombocytosis: This is an elevation of platelet count to more than 400,000/mcl.
- Leukocytosis: This is an elevation of white blood cell count to more than 11,000/mcl.
- Blood chemistry
- The following blood levels may be elevated (but these are non-specific):
- Blood urea nitrogen (BUN)
- Creatinine
- Phosphate
- Lactate dehydrogenase (LDH)
- Alanine aminotransferase (ALT)
- Aspartate transaminase (AST)
- Uric acid
- Peripheral blood mutational testing: The JAK2 V617F mutation or JAK2 exon 12 mutation can be detected on peripheral blood testing.
- Bleeding and clotting factor
- The following blood levels may be elevated:
- Prothrombin time (PT) or international normalized ratio (INR)
- Partial thromboplastin time (PTT)
- Flow cytometry: Flow cytometry of the peripheral blood is usually normal in polycythemia vera. There is usually no abnormal immunophenotype.
- Cytogenetics: Cytogenetics are usually normal in patients with polycythemia vera.
- Fluorescent in situ hybridization (FISH): FISH is usually normal in polycythemia vera. There are no particular translocations, deletions, insertions, or duplications.
- Erythropoietin (EPO): Erythropoietin is usually low in polycythemia vera. Low erythropoietin is a minor diagnostic criteria for polycythemia vera in the 2016 WHO classification of myeloproliferative neoplasms. In contrast, erythropoietin is usually high in secondary polycythemia.[8]
- Bone marrow biopsy: Bone marrow biopsy will show evidence of panmyelosis, which refers to elevation of white blood cells, red blood cells, and platelets. The reason for panmyelosis is that the JAK2 mutation is an activating mutation and occurs in the hematopoietic stem cell, which gives rise to all cell types of the blood.
References
- ↑ Canadian Cancer Society.2015.http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/polycythemia-vera/?region=ab
- ↑ Hawley JM, Owen LJ, MacKenzie F, Mussell C, Cowen S, Keevil BG (2015). "Candidate Reference Measurement Procedure for the Quantification of Total Serum Cortisol with LC-MS/MS". Clin Chem. doi:10.1373/clinchem.2015.243576. PMID 26534968.
- ↑ Amiel A, Gaber E, Manor Y, Fejgin M, Joseph-Lerner N, Ravid M; et al. (1995). "Fluorescence in situ hybridization for the detection of trisomies 8 and 9 in polycythemia vera". Cancer Genet Cytogenet. 79 (2): 153–6. PMID 7889510.
- ↑ Mazzotta S, Guerranti R, Gozzetti A, Bucalossi A, Bocchia M, Sammassimo S; et al. (2006). "Increased serum lactate dehydrogenase isoenzymes in Ph-negative chronic myeloproliferative diseases: a metabolic adaptation?". Hematology. 11 (4): 239–44. doi:10.1080/10245330600774835. PMID 17178662.
- ↑ Denman M, Szur L, Ansell BM (1966). "Hyperuricaemia in polycythaemia vera". Ann Rheum Dis. 25 (4): 340–4. PMC 2453349. PMID 5947579.
- ↑ Murakami J, Shimizu Y (2013). "Hepatic manifestations in hematological disorders". Int J Hepatol. 2013: 484903. doi:10.1155/2013/484903. PMC 3626309. PMID 23606974.
- ↑ Remacha AF, Montserrat I, Santamaria A, Oliver A, Barceló MJ, Parellada M (1997). "Serum erythropoietin in the diagnosis of polycythemia vera. A follow-up study". Haematologica. 82 (4): 406–10. PMID 9299851.
- ↑ Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM; et al. (2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–405. doi:10.1182/blood-2016-03-643544. PMID 27069254.