Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We assessed the role of low EPO level for PV diagnosis in the context of positive JAK2 mutation status as well as other diagnostic parameters.
|
31525610 |
2020 |
Polycythemia Vera
|
1.000 |
Biomarker
|
disease |
BEFREE |
JAK2 inhibitors and interferon-α are the established therapies in MF and high-risk PV patients.
|
31741139 |
2020 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inflammatory and oncogenic signaling converge in disease evolution of BCR-ABL-negative myeloproliferative neoplasms, clonal hematopoietic stem cell disorders characterized by gain-of-function mutation in JAK2 kinase (JAK2V617F), with highest prevalence in patients with polycythemia vera (PV).
|
30967632 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One hundred five Philadelphia-negative MPN patients, including polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF) were initially screened for JAK2 mutations by amplification-refractory mutation system (ARMS-PCR) methodology and were further subjected to detection of CALR gene mutations by our in-house assay, a PCR based amplicon length differentiation assay (PCR-ALDA).
|
31248375 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
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).
|
31697804 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
IPF analysis was performed on 22 patients with known JAK2 V617F mutation and 41 patients who were negative for this mutation previously tested because of suspicion of PV.
|
30601597 |
2019 |
Polycythemia Vera
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ruxolitinib is a JAK-1/JAK-2 inhibitor indicated for the treatment of polycythemia vera and primary or secondary myelofibrosis.
|
30639623 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
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.
|
30772299 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
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.
|
31123683 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An activating mutation in JAK2 (V617F) is present in ~ 95% of polycythemia vera, essential thrombocythemia, and primary myelofibrosis cases.
|
30717771 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We found that ASXL1 or EZH2 mutation acquisition after JAK2 leads to PV, while ASXL1 mutation acquisition before JAK2 leads to ET or PMF.
|
31704857 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The advances in molecular insights, especially the discovery of the Janus kinase 2 (JAK2) V617F mutation and its role in JAK-STAT pathway dysregulation, led to the development of the JAK inhibitor ruxolitinib, which currently represents the cornerstone of medical therapy in MF and hydroxyurea-resistant/intolerant PV.
|
31228096 |
2019 |
Polycythemia Vera
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We found that JAK1/2 or JAK2 inhibition prevented the IL-6 activation of STAT3 and AKT pathways in polycythemia vera and HEL cells.
|
30571852 |
2019 |
Polycythemia Vera
|
1.000 |
Biomarker
|
disease |
BEFREE |
Blood tests and a bone marrow biopsy revealed a diagnosis of JAK2 positive primary polycythaemia rubra vera.
|
31101584 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Aberrant JAK2 tyrosine kinase signaling drives the development of Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
31725895 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, the presence of JAK2 mutation is expected in PV while approximately 90% of patients with ET express mutually exclusive JAK2, CALR, or myeloproliferative leukemia mutations.
|
30281843 |
2019 |
Polycythemia Vera
|
1.000 |
Biomarker
|
disease |
BEFREE |
JAK-STAT signaling dysregulation has been noted in inflammatory disorders, and aberrant JAK2 pathway activation has been implicated in myelofibrosis and polycythemia vera.
|
31560729 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion of miR-451 curbs JAK2(V617F)-induced erythrocytosis in polycythemia vera by oxidative stress-mediated erythroblast apoptosis and hemolysis.
|
31399524 |
2019 |
Polycythemia Vera
|
1.000 |
Biomarker
|
disease |
BEFREE |
MPN patients with VTEs were significantly more female (p = 0.028), JAK2 positive (p = 0.018), or had a polycythemia vera (p = 0.009).
|
30155552 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F.
|
30471421 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It has been observed that, during a course of disease, transformation from JAK2-mutated essential thrombocythemia (ET) to overt polycythemia vera (PV) can occur.
|
31449697 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this article, we report a unique patient with polycythemia vera driven by a rare complex in-frame deletion-insertion mutation in JAK2 exon 12, and CML driven by uncommon p210 e14a3 (b3a3) BCR/ABL fusion transcript.
|
30463063 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are often characterized by specific somatic mutations in any of the three genes: JAK2, CALR, or MPL.
|
31571131 |
2019 |
Polycythemia Vera
|
1.000 |
Biomarker
|
disease |
BEFREE |
The whole body <sup>18</sup>F-FDG scan of a JAK2+ PV patient before treatment (a) as compared to a matched subject (b) is found below; of note is the PV patient's elevated uptake in the pelvis, femur and spine.
|
30843002 |
2019 |
Polycythemia Vera
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We further aim to investigate Jak2 exon 12 mutations in larger number of PV patients to assess their clinical relevance and role in disease onset, progression and transformation.
|
30519338 |
2018 |