|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Increased levels of JAK2 full-length transcript and a small but significant increase in JAK2 exon 14 skipping, are associated with the JAK2-V617F allele burden in PMF granulocytes.
|
25617626 |
2015 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
However, the molecular basis of JAK2 V617F-negative essential thrombocythemia and primary myelofibrosis remains largely unexplained.
|
21082983 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) was 82.0%, 36.6% and 51.1% respectively.
|
20331763 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V.
|
18165278 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders.
|
16247455 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) .
|
26617890 |
2015 |
|
rs77375493
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Notably, mutations in chromatin regulators ASXL1 and/or EZH2 were identified as the first genetic lesions, preceding both JAK2-V617F and CALR mutations, and are thus drivers of clonal myelopoiesis in a PMF subset.
|
29907810 |
2019 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up.
|
16810614 |
2006 |
|
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 |
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.
|
24186132 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points.
|
16531268 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
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.
|
22818858 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs.
|
16919893 |
2007 |
|
rs77375493
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Because JAK2 inhibitors are not specific for JAK2(V617F), responses have also been observed in JAK2(V617F) -negative MPNs because of the inhibition of wild-type JAK2, which is also likely responsible for the induction of cytopenias in patients with MF and for the normalization of peripheral blood counts observed in patients with ET or PV.
|
21766300 |
2012 |
|
rs77375493
|
|
|
0.800 |
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
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential thrombocythemia who lack the JAK2 V617F mutation.
|
23994117 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected.
|
17059429 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negative myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
20560681 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation is present in the majority of patients with polycythaemia vera and in approximately half of patients with essential thrombocythaemia and primary myelofibrosis.
|
19657484 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in patients with serious myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia and primary myelofibrosis.
|
20205617 |
2010 |
|
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 |
The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens.
|
25719551 |
2015 |