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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
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.
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22463737 |
2012 |
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rs77375493
|
|
Myelofibrosis
|
|
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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Myelofibrosis
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|
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.
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22280409 |
2012 |
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rs77375493
|
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Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
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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Myelofibrosis
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|
0.100 |
GeneticVariation
|
BEFREE |
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
|
|
Myelofibrosis
|
|
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
|
|
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 |
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rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
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
|
|
Myelofibrosis
|
|
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.
|
20888389 |
2011 |
|
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 |
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 |
In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV.
|
20631743 |
2010 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis!
|
20859081 |
2010 |
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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 |
|
rs77375493
|
|
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 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
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
|
|
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 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
PMF with different stages of myelofibrosis all yielded similar JAK2(V617F) allele burden.
|
19616600 |
2009 |
|
rs77375493
|
|
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 |
|
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 |
|
rs77375493
|
|
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 |
|
rs77375493
|
|
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 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), the activating tyrosine kinase point mutation present in about half of patients with MMM.
|
20425385 |
2007 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
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
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V617F) does not appear to be a causative factor.
|
17587878 |
2007 |