|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
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.
|
31697803 |
2020 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
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.
|
31778606 |
2020 |
|
rs77375493
|
|
Thrombocythemia, Essential
|
|
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.
|
31697803 |
2020 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F.
|
30471421 |
2019 |
|
rs77375493
|
|
Leukemia, Myelocytic, Acute
|
|
0.900 |
GeneticVariation
|
BEFREE |
A JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003).
|
30811597 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
An activating mutation in JAK2 (V617F) is present in ~ 95% of polycythemia vera, essential thrombocythemia, and primary myelofibrosis cases.
|
30717771 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Deletion of miR-451 curbs JAK2(V617F)-induced erythrocytosis in polycythemia vera by oxidative stress-mediated erythroblast apoptosis and hemolysis.
|
31399524 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
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).
|
31697804 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
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.
|
31123683 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
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.
|
30772299 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Moreover, leukocytes > 18 × 10<sup>9</sup>/L and V617F burden allele > 25.7% were statistically significantly different in PV</span> 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).
|
30301673 |
2019 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Influence of Blood Count, Cardiovascular Risks, Inherited Thrombophilia, and JAK2 V617F Burden Allele on Type of Thrombosis in Patients With Philadelphia Chromosome Negative Myeloproliferative Neoplasms.
|
30301673 |
2019 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
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
|
|
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
|
|
Myeloproliferative disease
|
|
0.800 |
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.
|
31123683 |
2019 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The median age was 57years (range, 38 to 72); 75% had primary MF and 25% had secondary MF.JAK2 V617F was mutated in 61%.
|
30408564 |
2019 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Furthermore, the V617F mutation in JAK2 was identified in patients affected by myeloproliferative neoplasms.
|
29589523 |
2019 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis.
|
30447300 |
2019 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Notably, mutations in chromatin regulators ASXL1 and/or EZH2 were identified as the first genetic lesions, preceding both JAK2-V617F and CALR mutations, and are thus drivers of clonal myelopoiesis in a PMF subset.
|
29907810 |
2019 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Tyrosine-phosphorylated SOCS3 negatively regulates cellular transformation mediated by the myeloproliferative neoplasm-associated JAK2 V617F mutant.
|
31255914 |
2019 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation.
|
30828850 |
2019 |
|
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 |