Molekulargenetisches Labor
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Polycythaemia vera

Die Polycythaemia vera ist eine Bluterkrankung bei der sich alle Zellreihen im peripheren Blut vermehrt finden. Ausgelöst werden kann eine solche Erkrankung durch somatische Mutationen im JAK2-Gen.

Gliederung

Hereditäre maligne Bluterkrankungen
Akute myeloische Leukämie
Erbliche Anfälligkeit für akute myeloische Leukämie
Erbliche Anfälligkeit für myelodysplastisches Syndrom
Juvenile myelomonozyäre Leukämie
Lymphoproliferatives Syndrom
Myelodysplastisches Syndrom
Non-Hodgkin-Lymphom
Noonan-Syndrom ähnliches Krankheitsbild und juvenile myelomonozytische Leukämie
Osteomyelofibrose
Polycythaemia vera
JAK2
Somatische Erythrozytose

Referenzen:

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 Artikel

Wikipedia DE (Polycythaemia_vera) external link
Update: 14. August 2020
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