|
rs77375493
|
|
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T.
|
23594705 |
2013 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Yet, the JAK2 V617F mutation is not a PV-initiating event and the family clustering of PV suggests a contribution of inherited genetic events.
|
21794206 |
2011 |
|
rs77375493
|
|
Refractory anemia with ringed sideroblasts
|
|
0.030 |
GeneticVariation
|
BEFREE |
Within this group, most of the patients harboring JAK2 V617F mutation showed features consistent with the provisional MDS/MPD-U entity refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T).
|
16741247 |
2006 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Within the JAK2 V617F-positive PV patients, however, clinical presentation and degree of myeloproliferation varies to a great extent.
|
17213018 |
2007 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
With the discovery of the JAK2 V617F mutation and its presence in many patients with myeloproliferative neoplasms, research in the JAK2 inhibitor arena has dramatically increased.
|
22041060 |
2011 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
With the advent of targeted therapies, such as the Janus kinase inhibitors, many patients have experienced substantial clinical benefits, including reduction in splenomegaly and symptoms and, in some instances, improvement or stabilization of bone marrow fibrosis and reduction of JAK2 V617F allele burden.
|
30343328 |
2019 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
With the advent of targeted therapies, such as the Janus kinase inhibitors, many patients have experienced substantial clinical benefits, including reduction in splenomegaly and symptoms and, in some instances, improvement or stabilization of bone marrow fibrosis and reduction of JAK2 V617F allele burden.
|
30343328 |
2019 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis.
|
19713696 |
2009 |
|
rs77375493
|
|
Acute erythroleukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis.
|
19713696 |
2009 |
|
rs77375493
|
|
Myeloid Leukemia, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia.
|
28602946 |
2017 |
|
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
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
While both variants have a significant contribution, they have nuanced consequences, with JAK2 46/1 predisposing essentially to JAK2 V617F-positive MPN, and TERT rs2736100 A>C having a more general, non-specific effect on all MPN, regardless of phenotype or major molecular subtype.
|
27061303 |
2016 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis.
|
20008195 |
2009 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis.
|
20008195 |
2009 |
|
rs77375493
|
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis.
|
20008195 |
2009 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoiesis and in most cases manifests as essential thrombocythemia (ET), whereas homozygous JAK2-V617F reduces megakaryopoiesis in favor of increased erythropoiesis, resulting in polycythemia vera and/or myelofibrosis.
|
20008195 |
2009 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
When comparing patients with and without venous thrombosis, cutoff value of V617F burden allele > 90.4% was significant for PV patients with thrombosis (P = .036), as was > 56.7% for PMF patients with thrombosis (P = .046).
|
30301673 |
2019 |
|
rs77375493
|
|
Anemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012).
|
17408465 |
2007 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
We, therefore, sought to determine whether there were JAK2 or MPL lesions in a well-defined, JAK2 V617F-negative MPD cohort, and to determine if clinical associations could be identified based on variations identified in these genes.
|
17920755 |
2007 |
|
rs77375493
|
|
Acute Chest Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
We would like to report and review the relationship between ACS and polycythemia vera with JAK2 V617F mutation.
|
26825737 |
2016 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
We would like to report and review the relationship between ACS and polycythemia vera</span> with JAK2 V617F mutation.
|
26825737 |
2016 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients.
|
18768782 |
2008 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation
|
BEFREE |
We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients.
|
18768782 |
2008 |
|
rs77375493
|
|
Thrombophilia
|
|
0.080 |
GeneticVariation
|
BEFREE |
We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients.
|
18768782 |
2008 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
We treated JAK2-V617F-dependent MPN model cells as well as primary MPN patient cells with the PIM kinase inhibitors SGI-1776 and AZD1208 and the JAK2 inhibitor ruxolitinib.
|
26472029 |
2015 |