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TEL-JAK2 is a gene fusion resulting from a chromosomal translocation between chromosomes 9 and 12 observed in human leukemia. [ 1 ] [ 2 ] The 5' moiety of TEL is fused to the 3' end of JAK2 . The oligomerisation domain of the TEL protein (also called ETV6 ) becomes juxtaposed to the tyrosine kinase domain of JAK2, and as result the TEL-JAK2 ...
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).
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]
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".
Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for the tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. [10]
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 ]
Multiple ETS factors have been found to be associated with cancer, such as through gene fusion. For example, the ERG ETS transcription factor is fused to the EWS gene, resulting in a condition called Ewing's sarcoma. [6] The fusion of TEL to the JAK2 protein results in early pre-B acute lymphoid leukaemia. [7]
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] Previously, they were known as myeloproliferative diseases (MPD). In 2016, Mastocytosis was no longer classified ...