|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
UNIPROT |
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
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential.
|
16603627 |
2006 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
|
15793561 |
2005 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
|
rs77375493
|
|
Polycythemia Vera
|
T |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Different involvement of the megakaryocytic lineage by the JAK2 V617F mutation in Polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis.
|
17262192 |
2007 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
A clinical laboratory providing the V617F test alone may risk missing a substantial number of patients with PV in areas with a high incidence of exon 12 mutation.
|
20660330 |
2010 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias.
|
21198321 |
2011 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
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
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Because the erythropoietin, thrombopoietin, and granulocyte colony-stimulating factor receptors are all constitutively activated, polycythemia vera is the potential ultimate clinical phenotype of the JAK2 V617F mutation and, as a corollary, is the most common of the 3 disorders.
|
20194236 |
2010 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII.
|
22411871 |
2012 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half of ET and MF (50%) and the majority of PV (up to 97%) are JAK2 V617F positive.
|
16919893 |
2007 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%-60% of essential thrombocythemia, and 50%-60% of primary myelofibrosis).
|
20528738 |
2010 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F.
|
30471421 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
JUNB was one of the genes upregulated in PV, and we confirmed, by quantitative real-time PCR, an overexpression of JUNB in hematopoietic cells of other JAK2 V617F PV patients.
|
18843287 |
2009 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
The median V617F allele burden in PV patients was 40 %, MF was 95 %, and ET was 25 %.
|
24362471 |
2014 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most consistent relationship was that between PV and the JAK2 V617F mutation (p=0.08).
|
19843380 |
2009 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
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
|
|
Polycythemia Vera
|
|
0.900 |
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
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples.
|
23807288 |
2013 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation per se but not the mutational load in patients with ET is associated with a PV-like phenotype and a higher prevalence of previous arterial thrombosis.
|
18616871 |
2008 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
V617F-positive ET and P</span>V displayed significant differences in their serum protein profiles.
|
18838204 |
2008 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activating JAK2(V617F) mutation in a variable proportion of hematopoietic cells.
|
19815050 |
2009 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Treatment with atiprimod, a potent JAK2 inhibitor, caused marked growth inhibition and apoptosis of human (SET-2) and mouse (FDCP-EpoR) JAK2(V617F)-positive cells as well as primary blood or bone marrow mononuclear cells from patients with polycythemia vera; however, these effects were attenuated when any of these cell types were cocultured (cell-on-cell) with human marrow stromal cell lines (e.g., HS5, NK.tert, TM-R1).
|
21512135 |
2011 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV).
|
31697804 |
2019 |