|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The results suggested that plasma Dkk-1 levels could differentiate ET from pre-PMF, in JAK2 V617F-positive as well as in CALR-positive patients, and also ET from PV in JAK2 V617F-positive patients.
|
29975001 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evaluations confirmed left renal artery stenosis and essential thrombocythemia with JAK2 V617F.Angioplasty cured the hypertension.
|
29656438 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
A 41-year-old man was admitted because of headache, and diagnosed as JAK2-negative ET.
|
29617043 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk to those carrying at least one variant allele for CASP9.
|
29542026 |
2019 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin mutation analysis in non-mutated Janus kinase 2 essential thrombocythemia patients in Chiang Mai University: analysis of three methods and clinical correlations.
|
29521158 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Compared to JAK2-mutated ET patients, CALR-mutated ET patients were younger, showed lower WBC counts, lower hemoglobin levels, higher platelet counts, and fewer thrombotic events.
|
29464483 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this regard, the 2016 changes were aimed at facilitating the distinction between masked PV and JAK2-mutated ET and between prefibrotic/early and overtly fibrotic PMF.
|
29426921 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CALR, a gene that codes for the calcium-binding chaperone calreticulin, is the predominant mutation in patients with non-mutated JAK2 essential thrombocythemia, accounting for 20-25% of the overall somatic mutation frequency in ET.
|
29411299 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Using flow cytometry and confocal microscopy, we found that the levels of PS-exposing erythrocytes, platelets, leukocytes, and serum-cultured ECs were significantly higher in each ET group [JAK2, CALR, and triple-negative (TN) (all P < 0.001)] than those in controls.
|
29332224 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Expert commentary: We use age>60 years, presence of JAK2 mutation and a prior thrombotic history as the principle determinants of 'high-risk' for thrombosis in PV and ET, dividing the patients into very-low, low, intermediate and high-risk disease.
|
29313725 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Quantitative assessment of JAK2 and CALR mutations was performed on diagnostic DNA samples from 425 essential thrombocythemia (ET) and 227 primary myelofibrosis patients using real-time quantitative PCR and fragment length analysis.
|
29306106 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
Description of recurrent genetic abnormalities in driver genes, including Janus Kinase 2 (JAK2), myeloproliferative leukemia and calreticulin, a better appreciation of the key diagnostic role of bone marrow features, results of large epidemiologic studies and a few but landmark controlled clinical trials produced in the last decade, all resulted in a reappraisal of the approach to polycythemia vera and essential thrombocythemia.
|
29194068 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
HBS1L-MYB rs9376092 associated only with JAK2 V617F-mutated ET (OR = 1.4; 95% CI = 1.1-1.7; P-value = .003).
|
29047144 |
2018 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
A phase 1 study of the Janus kinase 2 (JAK2)<sup>V617F</sup> inhibitor, gandotinib (LY2784544), in patients with primary myelofibrosis, polycythemia vera, and essential thrombocythemia.
|
28934680 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The World Health Organization classification system recognizes 4 variants of JAK2 mutation-enriched myeloproliferative neoplasms (for expansion of gene symbols, use search tool at www.genenames.org): essential thrombocythemia (ET), polycythemia vera (PV), primary myelofibrosis (PMF), and prefibrotic PMF.
|
28778261 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The latter group included cases of JAK2-mutated ET, primary myelofibrosis, myelodysplastic syndrome, and various reactive conditions.
|
28685840 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The identification of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis that are mutually exclusive with the JAK2 V617F mutation has stirred an intensive research interest about the molecular functions of CALR and its mutants in myeloproliferative neoplasms (MPNs) and its diagnostic/prognostic value.
|
28589084 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Multivariate analysis to evaluate the effect of mutation (CALR vs JAK2) on the slope of mutant burden in not treated pts with a positive slope adjusting for diagnosis (ET vs PMF) showed a trend toward a higher increase of mutant burden in CALR vs JAK2 (β = 0.19, P = 0.061) with no difference between diagnosis (P = 0.419).
|
28422716 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most common mutation-cytogenetic combinations in myeloproliferative neoplasm (MPN) were mutations of JAK2 or ASXL1 with del(20q) and were more common in patients with PMF and PV than in patients with ET.
|
28419183 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have reported that increased activated B cells can facilitate platelet production mediated by cytokines regardless JAK2 mutational status in ET.
|
28415571 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It has been confirmed that JAK2 mutation and leukocytosis are independent predictors for thrombotic events in ET patients.
|
28397442 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia.
|
28365441 |
2017 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed Sanger sequencing of exon 9 of CALR gene in blood samples obtained from 33 Moroccan patients with ET or PMF non-mutated for JAK2.
|
28340692 |
2019 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic lesions such as JAK2 mutations and BCR-ABL translocation are often mutually exclusive in MPN patients and lead to essential thrombocythemia, polycythemia vera, or myelofibrosis or chronic myeloid leukemia, respectively.
|
28335073 |
2017 |