|
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 |
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 |
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 |
Direct sequencing and DHPLC were relatively insensitive assays for mutation detection, together identifying only 53% of the JAK2 V617F positive cases of ET.
|
16916724 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A common somatic point mutation has recently been identified in the Janus kinase 2 (JAK2) gene in virtually all cases of polycythemia vera and in a majority of patients with essential thrombocythemia and idiopathic myelofibrosis.
|
20425335 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Even though this mutation has been predicted to constitutively activate the JAK2 kinase, spontaneous phosphorylation of STAT5 does not seem to be a frequent finding in platelets from ET patients.
|
16923108 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Limited effects on JAK2 mutational status after pegylated interferon alpha-2b therapy in polycythemia vera and essential thrombocythemia.
|
16956836 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
Second, after correlation with morphological features, it turned out that the characteristics of the megakaryocytes were more specific than the mutational status of JAK2 in characterizing ET and CIM.
|
16949922 |
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 |
These two patients and two other patients among the JAK2 mutated ET did not meet the WHO PV criteria due to their initial low hemoglobin levels.
|
17249502 |
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 |
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 |
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 |
LHGDN |
The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS).
|
16926301 |
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 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV.
|
17183644 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
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 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We studied 111 patients with ET; 39% were JAK2 mutant positive, and clone size (percentage mutant JAK2) was concordant with XCIP when constitutive T-cell patterns were taken into account.
|
17023581 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, this JAK2 mutation is present in only a subset (35-50%) of patients with essential thrombocythemia (ET).
|
17013813 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
The rate of thrombotic complications in JAK2-positive ET patients was significantly higher than that in wild-type ET patients and not statistically different from that in PV patients.
|
17229651 |
2007 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recent studies identified an activating mutation in the JAK2 tyrosine kinase (JAK2V617F) in most patients with polycythemia vera and in approximately half of those with essential thrombocythemia and primary myelofibrosis.
|
17906464 |
2007 |