|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay.
|
18336541 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis.
|
18612778 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
A recurrent specific JAK2 V617F mutation has been reported in bcr/abl-negative chronic myeloproliferative diseases (cMPD), including polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
|
18720212 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34(+) cell and neutrophil JAK2(V617F) allele burdens, was present in 24% of ET, 56% of PV, and 93% of PMF patients, and was independent of the CD34(+) cell JAK2(V617F) genotype.
|
18723264 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L.
|
18769448 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia Vera, essential thrombocythemia, and idiopathic Myelofibrosis but has not been previously described in Thalassemia patients.
|
18781401 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Moreover, none of the ET patients with JAK2 V617F and chromosome changes other than add(18)(p11) developed myelof</span>ibrosis.
|
18786436 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
There was a trend towards an association between SOCS3 methylation and lower SOCS3 expression in JAK2 V617F negative patients with idiopathic myelofibrosis but not in JAK2 V617F positive ones.
|
18815196 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies.
|
19167611 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes).
|
19175693 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu.
|
19277418 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)).
|
19287382 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) is observed in most individuals with polycythemia vera, essential thrombocythemia and primary myelofibrosis, there likely are additional genetic events that contribute to the pathogenesis of these phenotypically distinct disorders.
|
19287384 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review.
|
19299003 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
We performed immunohistochemical studies of MVD and VEGF-expression in 100 MPN, including 24 essential thrombocythemia- (ET), 46 polycythemia vera- (PV), 26 primary myelofibrosis- (PMF), four myelodysplastic (MDS)/MPN- and 20 control reactive bone marrow cases, and correlated these findings with biological and clinical key data and the JAK2-V617F status.
|
19466975 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis).
|
19605821 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The number of CD63(+) basophils was higher in patients with polycythemia vera than in healthy subjects or patients with essential thrombocythemia or primary myelofibrosis and was correlated with the V617F burden.
|
19608683 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases.
|
19616600 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis.
|
19643476 |
2010 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation is present in the majority of patients with polycythaemia vera and in approximately half of patients with essential thrombocythaemia and primary myelofibrosis.
|
19657484 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis.
|
19713696 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques.
|
19877761 |
2010 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%).
|
19941738 |
2009 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
This study is the largest hitherto carried out in this setting and shows that the rate of major CV events in PMF is comparable with that reported in essential thrombocythemia, and it is increased in aged patients and those with JAK2 V617F mutation and leukocytosis.
|
19965680 |
2010 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis.
|
20008195 |
2009 |