rs77375493
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Chronic myeloproliferative disorder
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0.100 |
GeneticVariation
|
BEFREE |
MPN driver mutations in genes associated with the JAK-STAT pathway include JAK2 V617F, JAK2 exon 12 mutations and mutations in MPL, CALR, and CSF3R.
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31778606 |
2020 |
rs77375493
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Chronic myeloproliferative disorder
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|
0.100 |
GeneticVariation
|
BEFREE |
The majority (94%) of patients were positive for the JAK2 V617F mutation, whilst in 29% recurrent ICVEs (range two to three) were noted prior to MPN diagnosis.
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30629793 |
2019 |
rs77375493
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Chronic myeloproliferative disorder
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|
0.100 |
GeneticVariation
|
BEFREE |
In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
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30772299 |
2019 |
rs77375493
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Chronic myeloproliferative disorder
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|
0.100 |
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).
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31697804 |
2019 |
rs77375493
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Chronic myeloproliferative disorder
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|
0.100 |
GeneticVariation
|
BEFREE |
Consistent with this, treatment with a small molecule IRAK1/4 inhibitor rescued the aberrantly elevated IL-1β production in the JAK2-V617F MPN model.
|
31434702 |
2019 |
rs77375493
|
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Tyrosine-phosphorylated SOCS3 negatively regulates cellular transformation mediated by the myeloproliferative neoplasm-associated JAK2 V617F mutant.
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31255914 |
2019 |
rs77375493
|
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
The majority of patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) harbor a gain of function mutation V617F in Janus kinase (JAK) 2.
|
31227936 |
2019 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype.
|
31248375 |
2019 |
rs77375493
|
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
The JAK2 46/1 haplotype, but not the TERT rs2736100 SNP, was correlated to the JAK2 V617F mutant allele burden in JAK2 V617F-positive MPN patients.
|
31571131 |
2019 |
rs77375493
|
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
LY2784544 demonstrated efficacy in JAK2 V617F-mutated MPNs, including in patients previously on ruxolitinib therapy, who had an ORR of 3.3%.
|
30025280 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Of the 51 patients diagnosed with MPN and a JAK-2 V617F mutation, 33 suffered from PV, 15 from ET and 3 from MF.
|
29492207 |
2018 |
rs77375493
|
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our findings support the possibility of coexisting JAK2 V617F and CALR mutations and stress the importance of further molecular screening in MPN patients with low allele frequencies of JAK2 V617F.
|
30292681 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN).
|
29717448 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN).
|
29150911 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently, reports about Philadelphia and JAK2 V617F-positive MPN cases have been described in literature.
|
29508552 |
2018 |
rs77375493
|
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion.
|
29214759 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN.
|
29767839 |
2018 |
rs77375493
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Erythroid staining for pSTAT5 was seen exclusively in "triple-negative (TN)" cases lacking JAK2 V617F, MPL, and CALR mutations (P=0.006, TN vs. other genotypes), and pSTAT5 staining in megakaryocyte nuclei was seen in 2 TN cases. pSTAT5 staining in TN MPN suggests that other unknown abnormalities in this pathway may contribute to the pathogenesis of these cases.
|
27258562 |
2018 |
rs77375493
|
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs).
|
29202466 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation.
|
29306106 |
2018 |
rs77375493
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Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value = .01).
|
29047144 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Eight patients underwent the JAK2 V617F gene test when diagnosed with MPN.
|
30452397 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our experiments revealed high analytical sensitivity for both tests, suggesting that they are capable of detecting the JAK2 V617F mutation at diagnosis of MPN with a limit of detection (LoD) of 0.12% for qPCR and 0.01% for ddPCR.
|
30056580 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
We report 2 cases of renovascular hypertension associated with JAK2 V617F mutation-positive MPNs and provide a literature review.
|
29656438 |
2018 |
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found the expression levels of p-JAK2, VEGF, HIF-1a and MVD in the newly diagnosed MPNs were significantly increased and were related to the JAK2 V617F burden.
|
28554272 |
2018 |