Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Myelodysplastic syndrome
Myelofibrosis
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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

None (2005) Polycythemia vera and other primary polycythemias.

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

Miller RL et. al. () Familial polycythemia vera.

[^]
12.

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

[^]
13.

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

[^]
14.

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.

[^]
15.

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

[^]
16.

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.

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
Update: Sept. 26, 2018