|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
We also investigated the relationships between the genotypes of each SNP and the risk factors of ET such as routine blood indexes, age and JAK2 V617F mutation.
|
27990849 |
2017 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
In essential thrombocythemia (ET), JAK2 V617F mutation, splenomegaly, and mutations in SH2B3, SF3B1, U2AF1, TP53, IDH2, and EZH2 were found to be additional negative prognostic factors.
|
28948488 |
2017 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET (4 cases, all combined with JAK2-V617F mutation), PV (2 cases, one combined with JAK2-V617F mutation), PMF (one case, combined with JAK2-V617F mutation) and CML (one case, combined with BCR/ABL1 fusion gene).
|
27111338 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
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 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
We assessed the benefit/risk of low-dose aspirin in 433 patients with low-risk essential thrombocythemia (271 with a CALR mutation, 162 with a JAK2(V617F) mutation) who were on antiplatelet therapy or observation only.
|
27175028 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
These studies offer novel insights into the mechanism of JAK/STAT activation in patients with JAK2-V617F-negative essential thrombocytosis and primary myelofibrosis.
|
26573090 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Ph negative MPN (PV, ET and PMF) are characterized by the mutation JAK2(V617F) of the JAK2 protein in the auto-inhibitory JH2 domain, which is found in most PV patients and in approximately half of ET and PMF patients.
|
27282563 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
One case of CML developed ET-like morphology and had JAK2 V617F detected while in molecular remission for CML.
|
26754830 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, a positive Janus kinase 2 (JAK2) V617F cell line established from patients with ET (SET-2 cells) when treated with JAK inhibitor presented high levels of LGALS3.
|
27402956 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
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 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The analysis of the studied parameters in relation to risk factors revealed that patients with ET with a history of thrombotic events had a significantly higher concentration of TF, and patients with the JAK2 V617F mutation had a lower TFPI activity, as compared with patients without the mutation.
|
27243342 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Reduced activity of TFPI in patients with essential thrombocythemia with JAK2 V617F mutation indicates an increased prothrombotic risk in this group of patients.
|
26945263 |
2016 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children.
|
25970554 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study.
|
26028965 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations.
|
25746303 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene.
|
26294037 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
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 |
|
Thrombocythemia, Essential
|
|
0.100 |
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 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations.
|
25729726 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
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 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, this study in a Belgian cohort of patients supports and extends the growing body of evidence that CALR mutant cases of essential thrombocythemia are phenotypically distinct from JAK2 V617F-positive cases, with regards to clinical and hematologic presentation as well as overall survival.
|
25934766 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
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 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
JAK2 V617F mutation frequency in our ET patients was similar to those reported previously.
|
26514532 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
We report the case of an untreated 32-year-old woman with a history of JAK2 V617F-positive ET with cerebellar and subarachnoid hemorrhages without evidence of sinus vein thrombosis.
|
24582788 |
2015 |
|
Thrombocythemia, Essential
|
|
0.100 |
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 |