|
Myelofibrosis
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Myelofibrosis
|
0.900 |
SomaticCausalMutation
|
disease |
ORPHANET |
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 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Myelofibrosis
|
0.900 |
SomaticCausalMutation
|
disease |
ORPHANET |
The diagnosis of patients with mutant MPL alleles at the time of molecular testing was de novo MMM in 12 patients, ET in 4, post-ET MMM in 1, and MMM in blast crisis in 3.
|
16868251 |
2006 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The diagnosis of patients with mutant MPL alleles at the time of molecular testing was de novo MMM in 12 patients, ET in 4, post-ET MMM in 1, and MMM in blast crisis in 3.
|
16868251 |
2006 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of patients with mutant MPL alleles at the time of molecular testing was de novo MMM in 12 patients, ET in 4, post-ET MMM in 1, and MMM in blast crisis in 3.
|
16868251 |
2006 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
|
17408465 |
2007 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
|
19194467 |
2009 |
|
Myelofibrosis
|
0.900 |
Biomarker
|
disease |
RGD |
Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim.
|
19671919 |
2009 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Myelofibrosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor.
|
19996410 |
2010 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
|
20062088 |
2010 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis.
|
20151976 |
2010 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons.
|
24402162 |
2014 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The objective of the current study was to examine the impact of CALR mutation variant stratified driver mutational status on overall (OS), myelofibrosis-free (MFFS), thrombosis-free, and leukemia-free survival (LFS) in ET; 495 patients (median age 58 years; 61% females) with ET were fully annotated for the their driver mutational status: 321 (65%) harbored JAK2, 109 (22%) CALR, and 12 (2%) MPL mutations and 11% were triple-negative.
|
26890983 |
2016 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Myelofibrosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
A thrombopoietin receptor antagonist is capable of depleting myelofibrosis hematopoietic stem and progenitor cells.
|
27114459 |
2016 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF).
|
27913528 |
2016 |
|
Myelofibrosis
|
0.900 |
Biomarker
|
disease |
BEFREE |
Conversely, elimination of macrophages expressing MPL by clodronate liposomes reversed the MF phenotype of the murine model, suggesting that fibrocyte differentiation induced by MPL activation contributes to the progression of MF.
|
28386106 |
2017 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Activating point mutations in the MPL gene encoding the thrombopoietin receptor are found in 3%-10% of essential thrombocythemia (ET) and myelofibrosis patients.
|
28395806 |
2017 |
|
Myelofibrosis
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The thrombopoietin/MPL axis is activated in the Gata1<sup>low</sup> mouse model of myelofibrosis and is associated with a defective RPS14 signature.
|
28622305 |
2017 |
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A 65-year-old woman with MPL-mutated essential thrombocythemia and progression to myelofibrosis was noted upon routine pretransplant testing to have mixed field reactivity with anti-D and an historic discrepancy in RhD type.
|
28653329 |
2017 |