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Polycythemia vera

Polycythemia vera is a myeloproliferative disorder in which all cell lines are elevated in the peripheral blood. The disease can be caused by somatic mutations of the JAK2 gene.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Lymphoproliferative syndrome
Myelodysplastic syndrome
Myelofibrosis
Non-Hodgkin lymphoma
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Polycythemia vera
JAK2
Somatic erythrocytosis
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome

References:

1.

Baxter EJ et al. () Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.

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2.

Spivak JL et al. (2014) Two clinical phenotypes in polycythemia vera.

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3.

Wang L et al. (2014) Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes.

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4.

Kelly K et al. (2008) Congenital JAK2V617F polycythemia vera: where does the genotype-phenotype diversity end?

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5.

LAWRENCE JH et al. (1950) Familial occurrence of polycythemia and leukemia.

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6.

None (1956) Radioactive phosphorus in the treatment of primary polycythemia (vera).

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7.

Kralovics R et al. (2003) Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease.

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8.

Chen Z et al. (1998) Gain of 9p in the pathogenesis of polycythemia vera.

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9.

Ratnoff WD et al. (1980) The familial occurrence of polycythemia vera: report of a father and son, with consideration of the possible etiologic role of exposure to organic solvents, including tetrachloroethylene.

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10.

Friedland ML et al. (1981) Polycythemia vera in identical twins.

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11.

Levin WC et al. (1967) Polycythemia vera with Ph-1 chromosomes in two brothers.

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12.

Miller RL et al. () Familial polycythemia vera.

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13.

Manoharan A et al. (1976) Familial polycythaemia vera: a study of 3 sisters.

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14.

Jutzi JS et al. (2013) MPN patients harbor recurrent truncating mutations in transcription factor NF-E2.

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15.

Delhommeau F et al. (2009) Mutation in TET2 in myeloid cancers.

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16.

None (2005) Polycythemia vera and other primary polycythemias.

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17.

None (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.

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18.

Cario H et al. (2003) Familial polycythemia vera with Budd-Chiari syndrome in childhood.

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19.

James C et al. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

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20.

Kralovics R et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders.

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21.

Sozer S et al. (2009) The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.

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22.

OMIM.ORG article

Omim 263300 external link
23.

Orphanet article

Orphanet ID 729 external link
24.

Wikipedia article

Wikipedia EN (Polycythemia_vera) external link
Update: Aug. 14, 2020
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