|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With the advent of targeted therapies, such as the Janus kinase inhibitors, many patients have experienced substantial clinical benefits, including reduction in splenomegaly and symptoms and, in some instances, improvement or stabilization of bone marrow fibrosis and reduction of JAK2 V617F allele burden.
|
30343328 |
2019 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis.
|
19713696 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis.
|
20008195 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
When comparing patients with and without venous thrombosis, cutoff value of V617F burden allele > 90.4% was significant for PV patients with thrombosis (P = .036), as was > 56.7% for PMF patients with thrombosis (P = .046).
|
30301673 |
2019 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis.
|
17285276 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis.
|
19643476 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)).
|
19287382 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We provide evidence of increasing JAK2 V</span>617F allele burden from ET, over PV to PMF (P = 0.001 and P < 0.00001 respectively).
|
17961178 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We performed immunohistochemical studies of MVD and VEGF-expression in 100 MPN, including 24 essential thrombocythemia- (ET), 46 polycythemia vera- (PV), 26 primary myelofibrosis- (PMF), four myelodysplastic (MDS)/MPN- and 20 control reactive bone marrow cases, and correlated these findings with biological and clinical key data and the JAK2-V617F status.
|
19466975 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
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.
|
24951423 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations.
|
21904853 |
2012 |
|
rs10974944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype.
|
20422415 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype.
|
20422415 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We detected the JAK2 V617F mutation in B and NK cells in approximately half the patients with IMF and a minority of those with PV.
|
16954506 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We conclude that JAK2 V617F genotype should be considered in any future risk stratification of patients with PMF.
|
17712047 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis.
|
30447300 |
2019 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis.
|
18612778 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation.
|
17565328 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F mutation status can predict clinical outcome.
|
23644853 |
2013 |
|
rs10974947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
|
rs77375493
|
|
|
0.800 |
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.
|
25934766 |
2015 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This study is the largest hitherto carried out in this setting and shows that the rate of major CV events in PMF is comparable with that reported in essential thrombocythemia, and it is increased in aged patients and those with JAK2 V617F mutation and leukocytosis.
|
19965680 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These studies offer novel insights into the mechanism of JAK/STAT activation in patients with JAK2-V617F-negative essential thrombocytosis and primary myelofibrosis.
|
26573090 |
2016 |
|
rs77375493
|
|
|
0.800 |
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.
|
23537216 |
2013 |