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rs77375493
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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.
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25912019 |
2015 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia.
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25934766 |
2015 |
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rs77375493
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0.100 |
GeneticVariation |
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The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis.
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26228487 |
2015 |
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rs77375493
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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.
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26648193 |
2015 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors.
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24856675 |
2014 |
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rs77375493
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0.100 |
GeneticVariation |
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We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis.
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24951423 |
2014 |
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rs77375493
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0.100 |
GeneticVariation |
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JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients.
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24186132 |
2014 |
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rs77375493
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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.
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23445613 |
2013 |
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rs77375493
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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.
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23057517 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The chronic myeloproliferative neoplasms (MPNs), are characterized by a Janus Kinase (JAK)-2 V617F point mutation but this molecular abnormality does not explain by itself the pathogenesis of these disorders, or the phenotypic diversity associated with essential thrombocythemia, polycythemia vera (PV), and myelofibrosis.
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24290217 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
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There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML.
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22818858 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of ruxolitinib (Jakafi(®)) in myelofibrosis, a real-time polymerase chain reaction assay for initial screening of all samples, and a novel single-nucleotide polymorphism typing (SNaPshot)-based assay for samples with less than 5% mutant allele burden.
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23537216 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The most prevalent mutation identified is a gain-of-function mutation in the Janus kinase (JAK) family, JAK2 V617F, which has been identified in more than half of patients with myelofibrosis.
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23307549 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
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However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans.
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23313046 |
2013 |
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rs77375493
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0.100 |
GeneticVariation |
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Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis.
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22300941 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
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In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can clearly separate distinct risk groups and can be used in addition to the Lille model to predict OS after RIC-ASCT for myelofibrosis.
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22280409 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
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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.
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22796437 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
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The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myelofibrosis (homozygous in 20%), and 0% for the other conditions.
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22333011 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
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These changes and the resultant clinical research are discussed in this article where we argue that discovery of the JAK2 V617F mutation has signalled the much delayed change in therapeutic paradigm for myelofibrosis and possibly other MPNs from palliation and allowing us to move closer to, but not yet attain, a cure.
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22463737 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly.
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22364960 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenotypes of ET patients, including older age, higher neutrophil count, and greater rates of organomegaly, thrombotic events, and myelofibrosis.
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23130336 |
2012 |
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rs77375493
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0.100 |
GeneticVariation |
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JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis.
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22234689 |
2012 |
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rs77375493
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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.
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20650526 |
2011 |
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rs77375493
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0.100 |
GeneticVariation |
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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.
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21224469 |
2011 |
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rs77375493
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0.100 |
GeneticVariation |
BEFREE |
These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primary MF, post-ET MF, and post-PV MF), presumably due to expansion of the JAK2 V617F clone and that this characteristic is surprisingly independent of JAK2 V617F homozygosity, suggesting that additional genomic lesions may contribute to this unique molecular process that distinguishes MF from ET and PV.
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20888389 |
2011 |