Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Myelodysplastisches Syndrom
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.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

None (2005) Polycythemia vera and other primary polycythemias.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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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.

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15.

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

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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.

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17.

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

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18.

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

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19.

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

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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.

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21.

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

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Update: 26. September 2018

 

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