Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors.
|
24856675 |
2014 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, none of the ET patients with JAK2 V617F and chromosome changes other than add(18)(p11) developed myelof</span>ibrosis.
|
18786436 |
2008 |
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 |
Myelofibrosis
|
|
0.100 |
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 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013.
|
25870379 |
2015 |
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 |
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 |
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 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis).
|
19605821 |
2009 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM.
|
16949922 |
2006 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu.
|
19277418 |
2009 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Overall survival and probability of survival free of thrombosis, bleeding and MF were analyzed by the Kaplan-Meier method and the presence of the Janus Kinase 2 (JAK2) V617F mutation correlated with the appearance of such complications.
|
17519959 |
2007 |
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 |
Myelofibrosis
|
|
0.100 |
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 |
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 |
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 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The advances in molecular insights, especially the discovery of the Janus kinase 2 (JAK2) V617F mutation and its role in JAK-STAT pathway dysregulation, led to the development of the JAK inhibitor ruxolitinib, which currently represents the cornerstone of medical therapy in MF and hydroxyurea-resistant/intolerant PV.
|
31228096 |
2019 |
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 |
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 |
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 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Overall response rates (ORRs) in patients with JAK2 V617F-mutated PV, ET, and MF were 95%, 90.5%, and 9.1%, respectively, while patients with ET and MF without the JAK2 V617F mutations had ORRs of 43.7% and 0%, respectively.
|
30025280 |
2018 |
Myelofibrosis
|
|
0.100 |
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 |
Myelofibrosis
|
|
0.100 |
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 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Follow-up of transgenic mice expressing V617F JAK2 showed that they develop typical features of myelofibrosis.
|
16901656 |
2007 |
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more "erythremic" and less "thrombocythemic": a molecular, histologic, and clinical study.
|
17875526 |
2007 |