rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
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31697803 |
2020 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.
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31689837 |
2019 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, leukocytes > 18 × 10<sup>9</sup>/L and V617F burden allele > 25.7% were statistically significantly different in PV patients (P = .019 and borderline significant at P = .055, respectively), while in ET patients leukocytes > 9.2 × 10<sup>9</sup>/L (P < .001) and age at diagnosis of > 55 years were statistically significantly different (P = .002).
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30301673 |
2019 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients.
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31123683 |
2019 |
rs77375493
|
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F.
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30471421 |
2019 |
rs77375493
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Thrombocythemia, Essential
|
|
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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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
In essential thrombocythaemia (ET), the patients with the JAK2 V617F mutation presented more leucocytes and neutrophils than patients who presented the CALR mutation, who had more platelets and a greater need for cytoreductive therapy.
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30971335 |
2019 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
The current study describes rare cases of SAH accompanied by ischemic stroke secondary to ET along with a review of the current literature, implying specific mechanisms for cerebral artery disorders associated with JAK2 V617F mutation.
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31049728 |
2019 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
Our data show that HIT is more frequent, during heparin treatment, in patients with ET carrying V617F mutation, as compared with patients without mutations (P = 0.029).
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29022213 |
2018 |
rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway.
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30558676 |
2018 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
BEFREE |
Evaluations confirmed left renal artery stenosis and essential thrombocythemia with JAK2 V617F.Angioplasty cured the hypertension.
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29656438 |
2018 |
rs77375493
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Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
HBS1L-MYB rs9376092 associated only with JAK2 V617F-mutated ET (OR = 1.4; 95% CI = 1.1-1.7; P-value = .003).
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29047144 |
2018 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
Fifteen patients with concomitant JAK2 V617F and CALR mutations were identified, of whom 10 were diagnosed with essential thrombocytosis (ET).
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30292681 |
2018 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
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 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF.
|
30502850 |
2018 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
BEFREE |
Essential thrombocythemia during treatment of acute myeloid leukemia with JAK2 V617F mutation: A case report of a CARE-compliant article.
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29979407 |
2018 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
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.
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28365441 |
2017 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
BEFREE |
Of the 110 subjects studied, 62 carried the JAK2 V617F mutation, 21 had CALR mutations, one carried an MPL (W515) mutation, and 28 had non-mutated JAK2, CALR, and MPL (so-called triple-negative ET).
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27875935 |
2017 |
rs77375493
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Thrombocythemia, Essential
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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 |
rs77375493
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Thrombocythemia, Essential
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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 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
BEFREE |
Approximately 95% of PV and 50-70% of ET patients harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations.
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29217833 |
2017 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
BEFREE |
Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients.
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28406068 |
2017 |
rs77375493
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Thrombocythemia, Essential
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0.100 |
GeneticVariation
|
BEFREE |
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia.
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27855276 |
2017 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
BEFREE |
VWF:RCo levels and VWF:RCo/VWF:Ag ratio were lower among JAK2 V617F positive- vs. JAK2 V617F negative- ET patients (P=0.02 and P=0.002, respectively); whereas VWF:Ag levels were comparable (P=0.96).
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27919526 |
2017 |
rs77375493
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Thrombocythemia, Essential
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|
0.100 |
GeneticVariation
|
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.
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28589084 |
2017 |