|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
CTD_human |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three studies now report an amino acid substitution in the JAK2 kinase in most patients with polycythemia vera as well as in some cases of essential thrombocythemia and chronic idiopathic myelofibrosis.
|
15837617 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
|
15837627 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
CTD_human |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers.
|
16197445 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information.
|
16197451 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while some patients with other chronic myeloproliferative disorders such as idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) also express the JAK2 V617F mutation.
|
16210034 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2.
|
16293597 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that JAK2 V617F-positive essential thrombocythaemia and polycythaemia vera form a biological continuum, with the degree of erythrocytosis determined by physiological or genetic modifiers.
|
16325696 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis.
|
16434490 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Increased platelet and leukocyte activation as contributing mechanisms for thrombosis in essential thrombocythemia and correlation with the JAK2 mutational status.
|
16461300 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
CTD_human |
The recently discovered single somatic activating point mutation in the JAK2 gene (JAK2-V617F) is found in the great majority of patients with PV, but also in many patients with phenotypically classified ET and other MPDs.
|
16484586 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a series of proven Ph- CMPDs classified according to World Health Organization criteria (n = 79), we detected the JAK2 mutation in 90% of polycythemia vera, 22% of cellular prefibrotic chronic idiopathic myelofibrosis, 60% of advanced chronic idiopathic myelofibrosis, and 27% of essential thrombocythemia.
|
16645202 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET.
|
16728702 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET.
|
16728702 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia (n = 103) was similar to the previously reported results.
|
16741247 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET).
|
16772604 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a "forme fruste of PV" consistent with early PV mimicking ET (JAK2 V617F trilinear MPD).
|
16810609 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
With the recent discovery of the V617F mutation in the Janus kinase 2 (JAK2) tyrosine kinase in almost all cases of PV and in a subset of patients with ET, studies are now pending to assess the role of this mutation in the hematopoietic cell activation process and/or in the occurrence of thromboses in ET and PV.
|
16810614 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Essential thrombocythemia (ET) is rare in children, and little or no information is available about clonality or JAK2 mutations.
|
16849644 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, a mutation in the Janus kinase 2 (JAK2) gene has been found in a significant number of cases of ET and other CMPDs.
|
16879015 |
2006 |