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__NOTOC__
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{{CMG}}{{AE}}{{MJK}} {{shyam}}
 
{{CMG}} {{AE}} {{MJK}}; {{shyam}} {{IO}}
{{Polycythemia vera}}
{{Polycythemia vera}}
==Overview==
==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.
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==
Laboratory findings associated with polycythemia vera include:<ref name="cancer.ca">Canadian Cancer Society.2015.http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/polycythemia-vera/?region=ab</ref><ref name="pmid26534968">{{cite journal| author=Hawley JM, Owen LJ, MacKenzie F, Mussell C, Cowen S, Keevil BG| title=Candidate Reference Measurement Procedure for the Quantification of Total Serum Cortisol with LC-MS/MS. | journal=Clin Chem | year= 2015 | volume= | issue= | pages= | pmid=26534968 | doi=10.1373/clinchem.2015.243576 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26534968 }} </ref><ref name="pmid7889510">{{cite journal| author=Amiel A, Gaber E, Manor Y, Fejgin M, Joseph-Lerner N, Ravid M et al.| title=Fluorescence in situ hybridization for the detection of trisomies 8 and 9 in polycythemia vera. | journal=Cancer Genet Cytogenet | year= 1995 | volume= 79 | issue= 2 | pages= 153-6 | pmid=7889510 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7889510 }} </ref><ref name="pmid17178662">{{cite journal| author=Mazzotta S, Guerranti R, Gozzetti A, Bucalossi A, Bocchia M, Sammassimo S et al.| title=Increased serum lactate dehydrogenase isoenzymes in Ph-negative chronic myeloproliferative diseases: a metabolic adaptation? | journal=Hematology | year= 2006 | volume= 11 | issue= 4 | pages= 239-44 | pmid=17178662 | doi=10.1080/10245330600774835 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17178662 }} </ref><ref name="pmid5947579">{{cite journal| author=Denman M, Szur L, Ansell BM| title=Hyperuricaemia in polycythaemia vera. | journal=Ann Rheum Dis | year= 1966 | volume= 25 | issue= 4 | pages= 340-4 | pmid=5947579 | doi= | pmc=PMC2453349 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5947579 }} </ref><ref name="pmid23606974">{{cite journal| author=Murakami J, Shimizu Y| title=Hepatic manifestations in hematological disorders. | journal=Int J Hepatol | year= 2013 | volume= 2013 | issue= | pages= 484903 | pmid=23606974 | doi=10.1155/2013/484903 | pmc=PMC3626309 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23606974  }} </ref><ref name="pmid9299851">{{cite journal| author=Remacha AF, Montserrat I, Santamaria A, Oliver A, Barceló MJ, Parellada M| title=Serum erythropoietin in the diagnosis of polycythemia vera. A follow-up study. | journal=Haematologica | year= 1997 | volume= 82 | issue= 4 | pages= 406-10 | pmid=9299851 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9299851 }} </ref>
Laboratory findings associated with polycythemia vera include:<ref name="pmid17178662">{{cite journal| author=Mazzotta S, Guerranti R, Gozzetti A, Bucalossi A, Bocchia M, Sammassimo S et al.| title=Increased serum lactate dehydrogenase isoenzymes in Ph-negative chronic myeloproliferative diseases: a metabolic adaptation? | journal=Hematology | year= 2006 | volume= 11 | issue= 4 | pages= 239-44 | pmid=17178662 | doi=10.1080/10245330600774835 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17178662 }} </ref><ref name="pmid5947579">{{cite journal| author=Denman M, Szur L, Ansell BM| title=Hyperuricaemia in polycythaemia vera. | journal=Ann Rheum Dis | year= 1966 | volume= 25 | issue= 4 | pages= 340-4 | pmid=5947579 | doi= | pmc=PMC2453349 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5947579 }} </ref><ref name="pmid23606974">{{cite journal| author=Murakami J, Shimizu Y| title=Hepatic manifestations in hematological disorders. | journal=Int J Hepatol | year= 2013 | volume= 2013 | issue= | pages= 484903 | pmid=23606974 | doi=10.1155/2013/484903 | pmc=PMC3626309 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23606974 }} </ref><ref name="pmid9299851">{{cite journal| author=Remacha AF, Montserrat I, Santamaria A, Oliver A, Barceló MJ, Parellada M| title=Serum erythropoietin in the diagnosis of polycythemia vera. A follow-up study. | journal=Haematologica | year= 1997 | volume= 82 | issue= 4 | pages= 406-10 | pmid=9299851 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9299851 }} </ref><ref name="pmid26324368">{{cite journal |vauthors=Stein BL, Oh ST, Berenzon D, Hobbs GS, Kremyanskaya M, Rampal RK, Abboud CN, Adler K, Heaney ML, Jabbour EJ, Komrokji RS, Moliterno AR, Ritchie EK, Rice L, Mascarenhas J, Hoffman R |title=Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F |journal=J. Clin. Oncol. |volume=33 |issue=33 |pages=3953–60 |date=November 2015 |pmid=26324368 |pmc=4979103 |doi=10.1200/JCO.2015.61.6474 |url=}}</ref><ref name="pmid27069254">{{cite journal| author=Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM et al.| title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. | journal=Blood | year= 2016 | volume= 127 | issue= 20 | pages= 2391-405 | pmid=27069254 | doi=10.1182/blood-2016-03-643544 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27069254 }} </ref>
*[[Complete blood count]]
*[[Complete blood count]]
:*[[Erythrocytosis]]: This is a hallmark laboratory finding in polycythemia vera.
:*[[Erythrocytosis]]
:*Increased hemoglobin: Hemoglobin is usually more than 16.5 g/dl. Elevated hemoglobin corresponds with elevated red blood cell mass.
:*Increased [[hemoglobin]]
:*Increased [[granulocyte]]s of all types: Polycythemia vera is characterized by panmyelosis (elevation of cell counts of all 3 cell lines).
:*[[Thrombocytosis]]
:*Increased [[basophil]]s and [[eosinophil]]s
:*[[Leukocytosis]]
:*[[Thrombocytosis]]: This is an elevation of platelet count to more than 400,000/mcl.
:*Increased [[basophil]]s and [[eosinophils]]
:*[[Leukocytosis]]: This is an elevation of white blood cell count to more than 11,000/mcl.
*The following blood levels may be elevated in blood chemistry (non specific):
*Blood chemistry
:*Blood urea nitrogen ([[BUN]])
:*The following blood levels may be elevated (but these are non-specific):
:*[[Creatinine]]
::*Blood urea nitrogen ([[BUN]])
:*[[Phosphate]]
::*[[Creatinine]]
:*[[Lactate dehydrogenase]] (LDH)
::*[[Phosphate]]
:*[[Alanine aminotransferase]] (ALT)
::*[[Lactate dehydrogenase]] (LDH)
:*[[Aspartate transaminase]] (AST)
::*[[Alanine aminotransferase]] (ALT)
:*[[Uric acid]]
::*[[Aspartate transaminase]] (AST)
*Peripheral blood mutational testing
::*[[Uric acid]]
:*[[JAK2]] V617F mutation or [[Janus kinase|JAK2]] exon 12 mutation
*Peripheral blood mutational testing: The JAK2 V617F mutation or JAK2 exon 12 mutation can be detected on peripheral blood testing.
*Bleeding and clotting factor
*Bleeding and clotting factor
:*The following blood levels may be elevated:
:*[[Prothrombin time|Elevation of prothrombin time]] (PT) or [[international normalized ratio]] (INR)
::*[[Prothrombin time]] (PT) or [[international normalized ratio]] (INR)
:*[[Partial thromboplastin time|Elevation of partial thromboplastin time]] (PTT)
::*[[Partial thromboplastin time]] (PTT)
*[[Erythropoietin]] (EPO)
*[[Flow cytometry]]: Flow cytometry of the peripheral blood is usually normal in polycythemia vera. There is usually no abnormal immunophenotype.
:*It is usually low in polycythemia vera but can be normal in about 20% of patients.  
*[[Cytogenetics]]: Cytogenetics are usually normal in patients with polycythemia vera.
:*It is usually high in secondary polycythemia vera.
*[[Fluorescent in situ hybridization]] (FISH): FISH is usually normal in polycythemia vera. There are no particular translocations, deletions, insertions, or duplications.
*[[Bone marrow biopsy]]
*[[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.<ref name="pmid27069254">{{cite journal| author=Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM et al.| title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. | journal=Blood | year= 2016 | volume= 127 | issue= 20 | pages= 2391-405 | pmid=27069254 | doi=10.1182/blood-2016-03-643544 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27069254  }} </ref>
:*Elevation of [[white blood cells]], [[red blood cells]], and [[platelets]]
*[[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==
==References==

Latest revision as of 03:11, 14 September 2019


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]; Shyam Patel [3] Ifeoma Odukwe, M.D. [4]

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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]

  • The following blood levels may be elevated in blood chemistry (non specific):
  • Peripheral blood mutational testing
  • JAK2 V617F mutation or JAK2 exon 12 mutation
  • Bleeding and clotting factor
  • It is usually low in polycythemia vera but can be normal in about 20% of patients.
  • It is usually high in secondary polycythemia vera.

References

  1. 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.
  2. Denman M, Szur L, Ansell BM (1966). "Hyperuricaemia in polycythaemia vera". Ann Rheum Dis. 25 (4): 340–4. PMC 2453349. PMID 5947579.
  3. Murakami J, Shimizu Y (2013). "Hepatic manifestations in hematological disorders". Int J Hepatol. 2013: 484903. doi:10.1155/2013/484903. PMC 3626309. PMID 23606974.
  4. 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.
  5. Stein BL, Oh ST, Berenzon D, Hobbs GS, Kremyanskaya M, Rampal RK, Abboud CN, Adler K, Heaney ML, Jabbour EJ, Komrokji RS, Moliterno AR, Ritchie EK, Rice L, Mascarenhas J, Hoffman R (November 2015). "Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F". J. Clin. Oncol. 33 (33): 3953–60. doi:10.1200/JCO.2015.61.6474. PMC 4979103. PMID 26324368.
  6. 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.

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