rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
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 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93).
|
15858187 |
2005 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML.
|
15860661 |
2005 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
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 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
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 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates.
|
16225651 |
2005 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
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 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
T |
0.800 |
GeneticVariation |
CLINVAR |
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
|
16293597 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
|
16293597 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis.
|
16325696 |
2005 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 patients whose disease had evolved into myelofibrosis; median percentages of mutant alleles in these subgroups were significantly different (32% versus 95%, P < .001).
|
16373657 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points.
|
16531268 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy.
|
16532437 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia.
|
16563504 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
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
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up.
|
16810614 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome.
|
16825501 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia.
|
16871275 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Because the JAK-STAT signaling pathway is involved in the regulation of genes encoding matrix metalloproteinases (MMPs), we examined the expression of MMPs, their tissue inhibitors (TIMPs), and collagen types in relation to the JAK2 status (V617F mutation versus wild-type) in cIMF (n = 64).
|
16877349 |
2006 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Follow-up of transgenic mice expressing V617F JAK2 showed that they develop typical features of myelofibrosis.
|
16901656 |
2007 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
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 |
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs.
|
16919893 |
2007 |