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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

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    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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