|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
27468853 |
2016 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Calreticulin (CALR) mutations were recently identified in a substantial proportion of persons with essential thrombocythemia (ET) and with primary myelofibrosis (PMF) without JAK2(V617F).
|
25860380 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Increased levels of JAK2 full-length transcript and a small but significant increase in JAK2 exon 14 skipping, are associated with the JAK2-V617F allele burden in PMF granulocytes.
|
25617626 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) .
|
26617890 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens.
|
25719551 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Genomically, the Janus Kinase 2 V617F mutation was observed less often in del(13q) PMF patients (P = .07).
|
26027540 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations.
|
25729726 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation frequency in our PMF patients was similar to those reported previously.
|
26625816 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013.
|
25870379 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
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 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients.
|
25116092 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis.
|
26228487 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations.
|
25746303 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases.
|
25912019 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis.
|
26130950 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Around 50% of patients with myelofibrosis have the JAK2(V617F) mutation, but almost all patients have aberrant activation of the JAK-STAT signalling pathway.
|
26648193 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation allele burden and miR-143 expression level resulted higher in PV and IM respect to ET patients.
|
25527813 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Striking morphologic similarities were found between polycythemia vera JAK2 V617</span>F and primary myelofibrosis JAK2 V617F concerning the localization and cytoplasmic size of megakaryocytes.
|
25171702 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients.
|
24186132 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis.
|
24951423 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF).
|
25023898 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors.
|
24856675 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pathological and clinical entities with the recurrent JAK2 V617F mutation present in ∼98% of patients with polycythemia vera and ∼50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
25259626 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies.
|
25176567 |
2014 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF).
|
24986690 |
2014 |