|
rs121913614
|
|
|
0.730 |
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 |
|
rs121913614
|
|
|
0.730 |
GeneticVariation |
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
rs121913614
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.
|
19713221 |
2010 |
|
rs121913615
|
|
|
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 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF).
|
28990497 |
2018 |
|
rs121913615
|
|
|
0.100 |
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
|
20062088 |
2010 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia.
|
19261614 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases.
|
19616600 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
|
19194467 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele.
|
18669880 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either a novel mutation (S204F) or the previously described W515L.
|
18723266 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML).
|
18464114 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated.
|
17408465 |
2007 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
|
rs121913615
|
|
|
0.100 |
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 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies.
|
25176567 |
2014 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis.
|
23872309 |
2013 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
19274616 |
2010 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
rs121913616
|
|
|
0.050 |
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 |