|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis.
|
29565699 |
2018 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Collectively, our studies demonstrate that occasional patients with CALR mutation-positive ET or MF carry other MPN-initiating genetic mutations (including JAK2 V617F), acquire "secondary mutations" before or after the CALR mutation, or evolve over time to being CALR mutation-homozygous.
|
28168700 |
2017 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), the activating tyrosine kinase point mutation present in about half of patients with MMM.
|
20425385 |
2007 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in MMM is significantly higher with an antecedent history of polycythaemia vera (PV), and its presence in AMM does not affect prognosis but is associated with PV-characteristic clinical features.
|
16225651 |
2005 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays.
|
23057517 |
2013 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Depending on the biological background of individual patients, heterozygous and homozygous JAK2 V617F ET/PV may preferentially induce myeloid metaplasia with myelofibrosis with a relative suppression of megakaryocytic and erythropoietic myeloproliferation leading to clinical pictures of fibrotic chronic idiopathic myelofibrosis (CIMF) or agnogenic myeloid metaplasia.
|
16810614 |
2006 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia.
|
17133423 |
2007 |
|
Myelofibrosis
|
|
0.100 |
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 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The discovery of the JAK2 V617F mutation in the majority of MF patients has been followed by significant progress in drug development for MF.
|
28395559 |
2017 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2 V617F is less severe and different from the rapid fatal myelofibrosis induced by TpoR W515L.
|
18769448 |
2008 |
|
Myelofibrosis
|
|
0.100 |
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 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia.
|
25934766 |
2015 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
To identify key features that may help distinguish these 2 entities, we retrospectively studied 21 cases diagnosed as "CMML" with JAK2 V617F and bone marrow fibrosis that were identified from a cohort of 610 cases of CMML diagnosed in 2006 to 2016.
|
30447300 |
2019 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis.
|
26228487 |
2015 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM.
|
17266061 |
2007 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM.
|
16293880 |
2005 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Apoptotic resistance in MMM correlated with anemia (P=0.01) and the JAK2-V617F (P=0.01).
|
16871275 |
2006 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myelofibrosis (homozygous in 20%), and 0% for the other conditions.
|
22333011 |
2012 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The chronic myeloproliferative neoplasms (MPNs), are characterized by a Janus Kinase (JAK)-2 V617F point mutation but this molecular abnormality does not explain by itself the pathogenesis of these disorders, or the phenotypic diversity associated with essential thrombocythemia, polycythemia vera (PV), and myelofibrosis.
|
24290217 |
2013 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome.
|
16825501 |
2006 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V617F) does not appear to be a causative factor.
|
17587878 |
2007 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primary MF, post-ET MF, and post-PV MF), presumably due to expansion of the JAK2 V617F clone and that this characteristic is surprisingly independent of JAK2 V617F homozygosity, suggesting that additional genomic lesions may contribute to this unique molecular process that distinguishes MF from ET and PV.
|
20888389 |
2011 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis!
|
20859081 |
2010 |
|
Myelofibrosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML.
|
15860661 |
2005 |