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Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase.It is a member of the Janus kinase family and has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family (IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g., IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R).
The concept of myeloproliferative disease was first proposed in 1951 by the hematologist William Dameshek. [18] The discovery of the association of MPNs with the JAK2 gene marker in 2005 and the CALR marker in 2013 improved the ability to classify MPNs. [19] MPNs were classified as blood cancers by the World Health Organization in 2008. [20]
A mutation in the JAK2 kinase (V617F) is strongly associated with polycythemia vera. [18] [19] While it is a JAK2 V617F mutation in 95% of patients, JAK2 exon 12 mutations have also been observed. [20] The V617F mutation is not inherited, but develops as a somatic mutation in the erythroid progenitor cells. [21]
This was updated in 2016 to include a provisional entity, a specific translocation mutation of the JAK2 gene that forms the PCM1-JAK2 fusion gene. [4] These mutation-associated eosinophilic neoplasms as well as some recently discovered mutations that give rise clonal hypereosinophilias are described in the following sections. [citation needed]
Specifically, mutations in exons 12, 13, 14 and 15 of the JAK2 gene are proposed to be a risk factor in developing lymphoma or leukemia. [6] Additionally, mutated STAT3 and STAT5 can increase JAK-STAT signalling in NK and T cells, which promotes very high proliferation of these cells, and increases the likelihood of developing leukaemia. [ 66 ]
Janus kinase (JAK) is a family of intracellular, non-receptor tyrosine kinases that transduce cytokine-mediated signals via the JAK-STAT pathway.They were initially named "just another kinase" 1 and 2 (since they were just two of many discoveries in a PCR-based screen of kinases), [1] but were ultimately published as "Janus kinase".
The underlying cause of PMF is almost always related to an acquired mutation in JAK2, CALR or MPL in a hematopoietic stem/progenitor cell in the bone marrow. [5] There is an association between mutations to the JAK2, CALR, or MPL genes and myelofibrosis. [6]
The most common JAK2 mutation is V617F which is the replacement of a valine amino acid with phenylalanine amino acid at the 617 position, hence the name V617F. This mutation results in the JAK2 protein constantly being turned on, which leads to the overproduction of abnormal blood cells, in ET it is platelets or megakaryocytes.
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