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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
It is now well-recognized that the activating JAK2(V617F) mutation occurs in the majority of patients with polycythemia vera (PV) and approximately half of those with either essential thrombocythemia (ET) or myelofibrosis with myeloid metaplasia (MMM).
|
17266061 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature.
|
17687555 |
2007 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years.
|
17023581 |
2007 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conclude that megakaryocytes might be the predominant or even the exclusive lineage that acquires the JAK2(V617F) mutation in ET and that the JAK2(V617F) evolution to higher gene dosages represents a dynamic and complex process substantially involving megakaryocytes.
|
17262192 |
2007 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status.
|
17229651 |
2007 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
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
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis.
|
17317861 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation has recently been described as an essential oncogenic event associated with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocythemia.
|
16954506 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules.
|
17577920 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood leukocytes in the majority of patients with PV and in approximately half of patients with essential thrombocythemia and idiopathic myelofibrosis.
|
17213018 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Despite intriguing pre-clinical data, where transgenic mice overexpressing FLT3-ITD developed a MPD resembling ET, none of the patient samples from ET patients who were JAK2(V617F)-negative demonstrated the presence of activating mutations in the FLT3 receptor.
|
17013813 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF).
|
17255768 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation is a frequent genetic event in the three classical Philadelphia-chromosome negative chronic myeloproliferative disorders (Ph(neg.)-CMPD), polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
|
17313377 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than 80% of PV patients, 30% of patients with ET and in about 50% of patients with idiopathic myelofibrosis.
|
17389152 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among patients with PV and ET, methylation of the PRV-1 gene is also inversely correlated with the presence of the JAK2(V617F) somatic mutation.
|
17976520 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
We provide evidence of increasing JAK2 V617F allele burden from ET, over PV to PMF (P = 0.001 and P < 0.00001 respectively).
|
17961178 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Retrospective data have identified JAK2 V617F as a risk factor for thrombosis in essential thrombocythemia, and have also shown a tight association between JAK2 V617F and abdominal vein thrombosis.
|
17934351 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozygosity is predominantly encountered in prefibrotic CIMF and essential thrombocythaemia but transition from hetero- to homozygosity with onset of fibrosis is rare.
|
17587878 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients.
|
17920754 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The remaining 44 patients showed negative JAK2-V617F expression on granulocytes, but positive JAK2-V617F expression was detected on the platelets from nine of the 33 essential thrombocythaemia (ET) patients, one of the eight polycythaemia vera patients, and two of the three primary myelofibrosis patients.
|
17854308 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Accordingly, the WHO concept of two distinct entities, ET and prefibrotic IMF, does not seem to fit the model of JAK2-positive ET as part of a biological continuum of JAK2 V617F-positive chronic myeloproliferative disorders.
|
18092959 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV) and a substantial proportion of patients with idiopathic myelofibrosis or essential thrombocythemia.
|
17178722 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpression, JAK2 V617F mutation, and clonality, while none of the familial ET showed JAK2 V617F mutation and clonality.
|
17369568 |
2007 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
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 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed the expression of AGT, renin, AT2R1 and ACE genes in normal and bone marrows of PV and ET patients with the respect to the presence of V617F JAK2 mutation.
|
17873518 |
2007 |