|
rs10815148
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
|
rs10974944
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype.
|
20422415 |
2010 |
|
rs10974947
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
|
rs12342421
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Striking morphologic similarities were found between polycythemia vera JAK2 V617</span>F and primary myelofibrosis JAK2 V617F concerning the localization and cytoplasmic size of megakaryocytes.
|
25171702 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myelofibrosis (homozygous in 20%), and 0% for the other conditions.
|
22333011 |
2012 |
|
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 recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis.
|
18048969 |
2007 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Discovery of the JAK2 V617F mutation in the myeloproliferative neoplasms (MPNs) essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) has stimulated great interest in the underlying molecular mechanisms and treatment of these diseases.
|
23023734 |
2012 |
|
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 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Calreticulin (CALR) mutations were recently identified in a substantial proportion of persons with essential thrombocythemia (ET) and with primary myelofibrosis (PMF) without JAK2(V617F).
|
25860380 |
2015 |
|
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 activating mutation JAK2 V617F plays a central role in the pathogenesis of polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
20160166 |
2010 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis.
|
30447300 |
2019 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis.
|
22300941 |
2012 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
We conclude that JAK2 V617F genotype should be considered in any future risk stratification of patients with PMF.
|
17712047 |
2007 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The influence of JAK2 V617F mutation on blast transformation (BT) and overall survival (OS) in primary myelofibrosis (PMF) is controversial.
|
23555782 |
2013 |
|
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 JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003).
|
30811597 |
2019 |
|
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 |
Allele-specific wild-type blocker quantitative PCR for highly sensitive detection of rare JAK2 p.V617F point mutation in primary myelofibrosis as an appropriate tool for the monitoring of molecular remission following therapy.
|
20354212 |
2010 |
|
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 |
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis.
|
17317861 |
2007 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
|
23666689 |
2013 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F mutation status can predict clinical outcome.
|
23644853 |
2013 |