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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003).
|
30811597 |
2019 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points.
|
16531268 |
2006 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders.
|
16247455 |
2006 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM.
|
17266061 |
2007 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the majority of patients with polycythemia vera (PV), and some with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis.
|
17183644 |
2006 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
About half of patients with myelofibrosis carry a gain-of-function mutation in the Janus kinase 2 gene (JAK2 V617F) that contributes to the pathophysiology of the disease.
|
20843246 |
2010 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases.
|
25912019 |
2015 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Additionally, both the lack of mutation status progression in serial analysis (available in nine patients) and the low frequency of patients with high mutated allele burden suggest that LT arising from MMM is probably not dependent on changes in JAK2(V617F) mutation status.
|
16563504 |
2006 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated.
|
17296581 |
2007 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Apoptotic resistance in MMM correlated with anemia (P=0.01) and the JAK2-V617F (P=0.01).
|
16871275 |
2006 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Around 50% of patients with myelofibrosis have the JAK2(V617F) mutation, but almost all patients have aberrant activation of the JAK-STAT signalling pathway.
|
26648193 |
2015 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because the JAK-STAT signaling pathway is involved in the regulation of genes encoding matrix metalloproteinases (MMPs), we examined the expression of MMPs, their tissue inhibitors (TIMPs), and collagen types in relation to the JAK2 status (V617F mutation versus wild-type) in cIMF (n = 64).
|
16877349 |
2006 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia.
|
17133423 |
2007 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Collectively, our studies demonstrate that occasional patients with CALR mutation-positive ET or MF carry other MPN-initiating genetic mutations (including JAK2 V617F), acquire "secondary mutations" before or after the CALR mutation, or evolve over time to being CALR mutation-homozygous.
|
28168700 |
2017 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Collectively, these results indicate that G6 is efficacious in Jak2-V617F-mediated myelofibrosis, and given its bone marrow efficacy, it may alter the natural history of this disease.
|
22796437 |
2012 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Compared with JAK2 (V617F)-positive PV patients, those with exon 12 mutations had significantly higher hemoglobin level and lower platelet and leukocyte counts at diagnosis but similar incidences of thrombosis, myelofibrosis, leukemia, and death.
|
21224469 |
2011 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis!
|
20859081 |
2010 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Depending on the biological background of individual patients, heterozygous and homozygous JAK2 V617F ET/PV may preferentially induce myeloid metaplasia with myelofibrosis with a relative suppression of megakaryocytic and erythropoietic myeloproliferation leading to clinical pictures of fibrotic chronic idiopathic myelofibrosis (CIMF) or agnogenic myeloid metaplasia.
|
16810614 |
2006 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis.
|
22300941 |
2012 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Follow-up of transgenic mice expressing V617F JAK2 showed that they develop typical features of myelofibrosis.
|
16901656 |
2007 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays.
|
23057517 |
2013 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells.
|
23445613 |
2013 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Higher JAK2(V617F) allele burden correlated with more advanced myelofibrosis, greater splenomegaly, and higher white blood cell count, but not with age, gender, hematocrit level, or frequency of phlebotomy prior to cytoreductive therapy.
|
20650526 |
2011 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans.
|
23313046 |
2013 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L.
|
18769448 |
2008 |