Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
MGD |
|
|
|
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The recent discovery of a recurrent activating Janus tyrosine kinase (JAK2) mutation (JAK2VG17F) in all 3 classic MPDs offers another opportunity for refining current diagnoses and disease classifications.
|
16178503 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias.
|
16037387 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In the past 3 months, 7 different studies have Independently described a close association between an activating JAK2 mutation (JAK2V617F) and the classic bcr/abi-negative MPD (ie, polycythemia vera, essential thrombocythemia, myelofibrosis with myeloid metaplasia) as well as the less frequent occurrence of the same mutation in both atypical MPD and the myelodysplastic syndrome.
|
16007902 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.
|
15920007 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
We therefore analyzed the Janus kinase 2 (Jak2) DNA sequence, EEC growth, PRV-1 expression, and c-Mpl (myeloproliferative) levels in a cohort of 78 myeloproliferative disorder (MPD) patients (42 ET, 22 PV, and 14 IMF).
|
15985544 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders.
|
15860661 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
BEFREE |
We investigated the role of the cytoplasmic tyrosine kinase JAK2 in patients with a myeloproliferative disorder.
|
15781101 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL.
|
16330446 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Retroviral transduction of the mutant JAK2 into murine HSC leads to the development of an MPD with polycythemia.
|
16304380 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
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 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We conclude that multiple molecular abnormalities are involved in the pathogenesis of the MPDs and that aberrant Mpl expression may be a common denominator of aberrant signaling in both the JAK2 V617F-positive and JAK2 V617F-negative MPDs.
|
16912229 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Transcription factor Fli-1 expression by bone marrow cells in chronic myeloproliferative disorders is independent of an underlying JAK2 (V617F) mutation.
|
16930139 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Recent information regarding disease pathogenesis, including a contribution to the myeloproliferative disorder phenotype by a gain-of-function JAK2 mutation (JAK2(V617F)), has revived the prospect of targeted therapeutics as well as molecular monitoring of treatment response.
|
16675707 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Among these 22 families, the absence of the JAK2 mutation both in purified T and B cells in 13 unrelated patients and the observation of variable ratios of the JAK2 mutant allele in patient leucocytes indicated that the Val617Phe JAK2 mutation was acquired in familial MPDs.
|
16537803 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The first question is how a unique mutation may explain the clinical diversity of JAK2 V617F-positive MPDs.
|
16810610 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
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 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Recently, the JAK2 V617F mutation has been reported in high proportions of chronic myeloproliferative disorders, including polycythemia vera.
|
16321863 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Substitution of a valine for a phenylalanine destabilizes the JH2 domain of JAK2 causes loss of the auto-inhibitory activity of this domain and explains some of the biological phenomena observed in patients with myeloproliferative disorders (MPD).
|
16285006 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A point mutation in the Janus tyrosine kinase 2 (JAK2) gene has been described in patients with chronic myeloproliferative disorders (MPD), but the clinical significance of JAK2(V617F), which may be harbored in either the heterozygote or homozyote status, is still largely undefined.
|
16572198 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The current findings indicated that the JAK2 (V617F) mutation represents an acquired somatic mutation in patients with familial chronic myeloproliferative disorders and probably occurs as a secondary genetic event in the background of preexisting clonal hematopoiesis.
|
16998940 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a first test for diagnosis.
|
17133457 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis.
|
17145859 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloproliferative disorder.
|
16810614 |
2006 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
However, until the recent description of the constitutively activating V617F point mutation of the Janus 2 tyrosine kinase (JAK2)--a high-frequency molecular marker that is extremely specific for clonal chronic myeloproliferative disorders--distinction of PV from secondary erythrocytosis or other conditions has often been difficult.
|
16827884 |
2006 |