Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

external link
2.

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

external link
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.

external link
4.

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

external link
5.

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

external link
6.

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

external link
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.

external link
8.

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

external link
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.

external link
10.

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

external link
11.

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

external link
12.

Miller RL et al. () Familial polycythemia vera.

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

None (2005) Polycythemia vera and other primary polycythemias.

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
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
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum