rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms such as polycythemia vera (PV), which are associated with the JAK mutation V617F, remain incurable despite progress in the use of JAK2 inhibitors for treatment of some of these diseases.
|
27784744 |
2017 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our objective was to survey hematologists in the diagnosis and treatment of PV in the modern, post-JAK2 V617F discovery era.
|
27697978 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The TERT rs2736100 A>C SNP strongly correlated to all MPN, regardless of the phenotype (PV, ET or PMF) and major molecular subtype (JAK2 V617F- or CALR-positive).
|
27061303 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results demonstrate the prevalence of JAK2 mutations (V617F and in exon 12) in PV cases.
|
27410038 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We would like to report and review the relationship between ACS and polycythemia vera</span> with JAK2 V617F mutation.
|
26825737 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by an overactive Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway through mutations in JAK2 exons 12 or 14 (JAK2 V617F).
|
26894383 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation frequency in our PV patients was similar to those reported internationally.
|
27039724 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here, a 22 year old female with angiographically proven BCS secondary to JAK2/V617F positive Polycythemia vera on therapeutic warfarin presented with acute liver failure (ALF).
|
26626649 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Interferon-α has been used in PV and has shown significant activity in achieving hematologic responses and decreasing JAK2 V617F mutation allele burden.
|
26975864 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
27468853 |
2016 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In addition, a patient with polycythemia vera diagnosed as being JAK2 V617F-negative by unlabeled probe melting curve analysis was found to be positive by the microchip.
|
26235214 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates.
|
25968903 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analyzed in 929 Chinese patients with BCR-ABL1-negative MPN, including 234 cases of polycythemia vera (PV), 428 ETs, 187 PMFs, and 80 unclassifiable MPNs (MPN-Us).
|
26071474 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and polycythemia vera (PV) in 4.
|
25116182 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens.
|
25719551 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)).
|
25849990 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) .
|
26617890 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2(V617F) mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL(515) mutation.
|
25116092 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The JAK2 c.1849G>T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and contributes to dysregulated JAK signaling in myelofibrosis (MF), polycythemia vera (PV), and essential thrombocythemia (ET).
|
26228487 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation allele burden and miR-143 expression level resulted higher in PV and IM respect to ET patients.
|
25527813 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In conclusion, platelet counts and splenomegaly were significant predictors for the transformation to post-PV MF, while anemia (hemoglobin levels <100 g/L) and age>65 years were significant predictors for poor prognosis of post-PV MF in Chinese PV patients with JAK2(V617F) or exon12 mutation.
|
26370613 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified.
|
25951317 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases.
|
25912019 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F.
|
26324368 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES).
|
25860380 |
2015 |