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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Essential thrombocythemia during treatment of acute myeloid leukemia with JAK2 V617F mutation: A case report of a CARE-compliant article.
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29979407 |
2018 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F-positive erythroid burst-forming units (BFU-Es) were more frequent in patients with PV compared with patients with ET (P = .022) and, strikingly, V617F-homozygous BFU-Es were detected in all 17 patients with PV, but in none of the patients with ET (P < .001).
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16772604 |
2006 |
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rs77375493
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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.
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17577920 |
2007 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV.
|
24820309 |
2014 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 52-year-old man developed essential thrombocythemia (ET) with JAK2 V617F mutation after orthotopic liver transplantation (OLT).
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16929538 |
2006 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation.
|
20633767 |
2010 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.
|
31689837 |
2019 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
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 |
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rs77375493
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|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway.
|
30558676 |
2018 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients.
|
16210033 |
2005 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A retrospective investigation of the JAK2 V617F mutation was carried out in DNA samples from 131 bone marrow (BM) core biopsy specimens corresponding to patients with polycythemia vera (PV) (n = 31), essential thrombocythemia (ET) (n = 31), chronic idiopathic myelofibrosis (CIM) (n = 18), as well as patients with normal BM and secondary reactive hyperplasia.
|
16949922 |
2006 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A significant decrease in JAK2 V617F allele load was observed at 36 months both in PV and ET patients, being the reduction in PV higher than in ET patients (P = 0·01).
|
21219298 |
2011 |
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rs77375493
|
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Thrombocythemia, Essential
|
|
0.100 |
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 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocythemia and B-chronic lymphocytic leukemia and in two relatives with lymphoproliferative disorders.
|
19816006 |
2009 |
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rs77375493
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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 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%-60% of essential thrombocythemia, and 50%-60% of primary myelofibrosis).
|
20528738 |
2010 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although polycythemia vera JAK2 V617F and essential thrombocythemia JAK2 V617F</span> shared similarities in localization, distribution, and amount of megakaryocytes, morphology was different.
|
25171702 |
2014 |
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rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although it is in vogue to consider essential thrombocythemia as more than one disease in terms of both molecular phenotype (presence or absence of JAK2(V617F)) and putative pattern of myelopoiesis (monoclonal versus polyclonal), it is yet to be shown that such differences influence either the natural history of the disease or current therapy.
|
16456375 |
2006 |
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rs77375493
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|
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 |
An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.
|
16885051 |
2006 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPDs), polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocytosis (ET).
|
16912229 |
2006 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
An activating mutation (V617F) in the pseudokinase domain of the Janus kinase (JAK)-2 tyrosine kinase has been described in 90% of patients with polycythemia vera (PV) and 50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (MF).
|
22583424 |
2012 |
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rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Approximately 50% of essential thrombocythaemia and primary myelo-fibrosis patients do not have a JAK2 V617F mutation.
|
20151976 |
2010 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Approximately 95% of PV and 50-70% of ET patients harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations.
|
29217833 |
2017 |