|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations.
|
25729726 |
2015 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors.
|
24856675 |
2014 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis.
|
17018857 |
2007 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
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.
|
23130336 |
2012 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF.
|
30502850 |
2018 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation frequency in our PMF patients was similar to those reported previously.
|
26625816 |
2015 |
|
rs77375493
|
|
Primary Myelofibrosis
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
|
16293597 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93).
|
15858187 |
2005 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, JAK2 V617F.
|
22251709 |
2012 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A thorough investigation resulted in a final diagnosis of primary myelofibrosis associated with the V617F mutation in the JAK2 gene.
|
29368941 |
2018 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
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.
|
22463737 |
2012 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V6</span>17F) does not appear to be a causative factor.
|
17587878 |
2007 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
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.
|
22280409 |
2012 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques.
|
19877761 |
2010 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM.
|
16949922 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F).
|
20339092 |
2010 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Somatic mutations in an endoplasmic reticulum chaperone, named calreticulin (CALR), is the second most common mutation in patients with ET and PMF after JAK2 V617F mutation.
|
26697989 |
2016 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in ET (17/30), higher in PV (24/30) and in PMF (22/30).
|
22006129 |
2011 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis!
|
20859081 |
2010 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia.
|
16871275 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia vera and in roughly every second patient suffering from essential thrombocythemia and primary myelofibrosis.
|
20587663 |
2010 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pathological and clinical entities with the recurrent JAK2 V617F mutation present in ∼98% of patients with polycythemia vera and ∼50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
25259626 |
2014 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
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
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Furthermore, EndMT is an early event in a JAK2-V617F knock-in mouse model of primary myelofibrosis.
|
28728747 |
2017 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
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 |