|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required.
|
26919114 |
2016 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
|
20062088 |
2010 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
|
19194467 |
2009 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele.
|
18669880 |
2008 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated.
|
17408465 |
2007 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.
|
16834459 |
2006 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
BEFREE |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.
|
16834459 |
2006 |
|
rs121913615
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
|
16868251 |
2006 |
|
rs121913615
|
|
T |
0.870 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913616
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing.
|
19194467 |
2009 |
|
rs121913616
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
|
16834459 |
2006 |
|
rs121913616
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.
|
16868251 |
2006 |
|
rs121913616
|
|
AA |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs77375493
|
|
|
0.100 |
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
|
|
|
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
|
|
|
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 |
|
rs77375493
|
|
|
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 |
|
rs77375493
|
|
|
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 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall response rates (ORRs) in patients with JAK2 V617F-mutated PV, ET, and MF were 95%, 90.5%, and 9.1%, respectively, while patients with ET and MF without the JAK2 V617F mutations had ORRs of 43.7% and 0%, respectively.
|
30025280 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis.
|
29565699 |
2018 |
|
rs77375493
|
|
|
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 |
|
rs77375493
|
|
|
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 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Since the discovery of the activating V617F mutation in Janus kinase 2 (JAK2), a number of pharmacologic inhibitors of JAK2 have entered clinical trials for patients with myelofibrosis.
|
28441920 |
2017 |
|
rs77375493
|
|
|
0.100 |
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 |