rs17292650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a single nucleotide substitution (G1238T) that results in a change from lysine to asparagine at amino acid 39 (K39N) in three African-American women referred for an evaluation of an MPD.
|
15269348 |
2004 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that V617F is widespread in MPDs.
|
15920007 |
2005 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs121918462
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Eight of 19 patients with NS/MPD carried the Thr73Ile substitution.
|
15928039 |
2005 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, the JAK2 V617F mutation has been reported in high proportions of chronic myeloproliferative disorders, including polycythemia vera.
|
16321863 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A mutation in the JH2 pseudokinase domain of the Janus kinase 2 gene (JAK2 V617F) has been described in chronic myeloproliferative disorders (MPD).
|
16408098 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
DNA from 161 samples was isolated from peripheral blood granulocytes and formalin-fixed bone marrow clot sections in patients with CMPDs and without myeloproliferative disorders previously genotyped for the JAK2 V617F (G-->T) mutation, which included 114 wild types (GG) and 47 mutants (GT and TT).
|
16627272 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloproliferative disorder.
|
16810614 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
If detection of JAK2 V617F drastically simplifies the diagnosis of MPDs, and especially PV, prospective clinical trials will be necessary to determine if the therapeutic attitude and disease prognosis will depend on the presence of JAK2 V617F.
|
16810610 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia.
|
16831057 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia.
|
16931578 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An acquired gain-of-function mutation in the Janus kinase 2 (JAK2-V617F) is frequently found in patients with myeloproliferative disorders (MPDs).
|
16675710 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using the single probe assay, we examined 70 cases with a presumptive diagnosis of MPD, of which 38 (54%) yielded positive results for the presence of the JAK2 V617F mutation, and 92 follicular lymphoma cases, which were negative for the JAK2 V617F mutation.
|
17022694 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD).
|
17145859 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Janus kinase2 V617F was present in 13/162 AML samples (8%): 10/13 transformed MPD, and three apparent de novo AML (one of 12 AML-M6, one of 24 AML-M7, and one AML-M2 - all mixed clonality).
|
16598306 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients.
|
16810609 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |