Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Polycytemia vera

Clinics and Pathology

Disease chronic myeloproliferative syndrome
Phenotype / cell stem origin pluripotent -non lymphoid- stem cell is involved
Epidemiology annual incidence: 10/106; sex ratio: 1M/1F; median age 60 yrs
Clinics asymptomatic for a long time, revealed by symptoms related to blood hyperviscosity (headache, vertigo ...), or by asthenia, pruritus, skin erythrosis, or various other symptoms;
splenomegaly is frequent: 70%;
hepatomegaly in 40%;
blood data: red cell mass of > 36 ml/kg in males, >32 ml/kg in females; arterial oxYgen saturation > 92%;
high haemoglobin;
WBC and platelets counts may be high
Prognosis chronic disease, with, however, risks of thrombosis and haemorrhages in various tissues, including central nervous system; bone marrow evolution towards:
1- myelofibrosis with myeloid metaplasia (MMM) in 20% of cases;
2- acute leukaemia in 10%, either as an acute transformation, or as a therapy related ANLL; prognosis: median survival is 14yrs with blood-letting, 12 yrs with 32P, less than 10 yrs with standard chemotherapy.

Cytogenetics

Cytogenetics Morphological
  • normal karyotype is found in > 80% of cases at diagnosis, - abnormal karyotype occurs with evolution, - but the appearance of a clonal anomaly does not indicate progression of the disease, - and may also occur during evolution to MMM, - finally, up to 100% of cases with acute transformation have chromosome anomalies; these are:
  • del(20q), +8, +9 may be seen solely or simultaneously in 20% of cases with chromosome anomalies, del(13q) and a partial duplication dup(1q) (sometimes in the form of t(1;7(q10;p10)) in 10%, other anomalies in 30%; none of them has prognostic significance;
  • del(5q) del(5q) and del(7q) del(7q), hypodiploidy hypodiploidy are seen in cases evolving towards therapy related ANLL: they confirm the diagnosis and indicate an adverse prognosis

    • Genes involved and Proteins

    Note genes involved are unknown

    Bibliography

    A chromosomal profile of polycythemia vera.
    Rege-Cambrin G, Mecucci C, Tricot G, Michaux JL, Louwagie A, Van Hove W, Francart H, Van den Berghe H
    Cancer genetics and cytogenetics. 1987 ; 25 (2) : 233-245.
    PMID 3828970
     
    A prospective long-term cytogenetic study in polycythemia vera in relation to treatment and clinical course.
    Swolin B, Weinfeld A, Westin J
    Blood. 1988 ; 72 (2) : 386-395.
    PMID 3401588
     
    Gain of 9p in the pathogenesis of polycythemia vera.
    Chen Z, Notohamiprodjo M, Guan XY, Paietta E, Blackwell S, Stout K, Turner A, Richkind K, Trent JM, Lamb A, Sandberg AA
    Genes, chromosomes & cancer. 1998 ; 22 (4) : 321-324.
    PMID 9669670
     
    Myeloproliferative disorders.
    Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
    Best practice & research. Clinical haematology. 2001 ; 14 (3) : 531-551.
    PMID 11640868
     
    Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera.
    Kralovics R, Guan Y, Prchal JT
    Experimental hematology. 2002 ; 30 (3) : 229-236.
    PMID 11882360
     
    Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected.
    Najfeld V, Montella L, Scalise A, Fruchtman S
    British journal of haematology. 2002 ; 119 (2) : 558-566.
    PMID 12406101
     
    Karyotypic abnormalities in myelofibrosis following polycythemia vera.
    Andrieux J, Demory JL, Caulier MT, Agape P, Wetterwald M, Bauters F, La JL
    Cancer genetics and cytogenetics. 2003 ; 140 (2) : 118-123.
    PMID 12645649
     
    The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis.
    Ruggeri M, Tosetto A, Frezzato M, Rodeghiero F
    Annals of internal medicine. 2003 ; 139 (6) : 470-475.
    PMID 13679323
     
    Conventional cytogenetics of myeloproliferative diseases other than CML contribute valid information.
    Bacher U, Haferlach T, Kern W, Hiddemann W, Schnittger S, Schoch C
    Annals of hematology. 2005 ; 84 (4) : 250-257.
    PMID 15692838
     
    Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
    Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Cancer Genome Project, Green AR
    Lancet. 2005 ; 365 (9464) : 1054-1061.
    PMID 15781101
     
    A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
    James C, Ugo V, Le Coudic JP, Staerk J, Delhommeau F, Lacout C, Garon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W
    Nature. 2005 ; 434 (7037) : 1144-1148.
    PMID 15793561
     
    A gain-of-function mutation of JAK2 in myeloproliferative disorders.
    Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC
    The New England journal of medicine. 2005 ; 352 (17) : 1779-1790.
    PMID 15858187
     
    Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
    Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frhling S, Dhner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG
    Cancer cell. 2005 ; 7 (4) : 387-397.
    PMID 15837627
     
    Identification of an acquired JAK2 mutation in polycythemia vera.
    Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz SB, Zhao ZJ
    The Journal of biological chemistry. 2005 ; 280 (24) : 22788-22792.
    PMID 15863514
     
    Management of polycythemia vera and essential thrombocythemia.
    Campbell PJ, Green AR
    Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2005 : 201-208.
    PMID 16304381
     
    The polycthemias.
    Hoffman R, Baker K, Prchal J
    Hoffman R, Benz EJ, Shattil SJ, Furie B, Cohen HJ, Silbertsein LE, McGlave P (Eds)..
     
    A Unique Activating Mutation in JAK2 (V617F) Is at the Origin of Polycythemia Vera and Allows a New Classification of Myeloproliferative Diseases.
    Vainchenker W, Constantinescu SN
    Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2005 : 195-200.
    PMID 16304380
     
    Involvement of various hematopoietic-cell lineages by the JAK2V617F mutation in polycythemia vera.
    Ishii T, Bruno E, Hoffman R, Xu M
    Blood. 2006 ; 108 (9) : 3128-3134.
    PMID 16757685
     
    The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation.
    Jamieson CH, Gotlib J, Durocher JA, Chao MP, Mariappan MR, Lay M, Jones C, Zehnder JL, Lilleberg SL, Weissman IL
    Proceedings of the National Academy of Sciences of the United States of America. 2006 ; 103 (16) : 6224-6229.
    PMID 16603627
     
    The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera.
    Lippert E, Boissinot M, Kralovics R, Girodon F, Dobo I, Praloran V, Boiret-Dupr N, Skoda RC, Hermouet S
    Blood. 2006 ; 108 (6) : 1865-1867.
    PMID 16728702
     
    Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia.
    Scott LM, Scott MA, Campbell PJ, Green AR
    Blood. 2006 ; 108 (7) : 2435-2437.
    PMID 16772604
     

    Contributor(s)

    Written07-1997Jean-Loup Huret and Nicole Smadja
    Laboratoire de Recherche en Cytogénétique Hématologique, Hôpital Saint Antoine, Paris, France

    Citation

    This paper should be referenced as such :
    Huret JL and Smadja N . Polycytemia vera. Atlas Genet Cytogenet Oncol Haematol. July 1997 .
    URL : http://AtlasGeneticsOncology.org/Anomalies/PV.html

    This paper is referenced by INIST as such :
    http://documents.irevues.inist.fr/bitstream/handle/2042/32024/07-1997-PV.pdf   [ Bibliographic record ]
    http://documents.irevues.inist.fr/bitstream/2042/38364/1/07-2006-PV.pdf   [ Bibliographic record ]

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