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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Correction: Myeloproliferative leukemia protein activation directly induces fibrocyte differentiation to cause myelofibrosis.
|
30232464 |
2018 |
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 |
Biomarker
|
disease |
BEFREE |
We screened 136 patients with myelofibrosis and a median age of 58 years who underwent allogeneic stem cell transplantation (AHSCT) for molecular residual disease for JAKV617F (n=101), thrombopoietin receptor gene (MPL) (n=4) or calreticulin (CALR) (n=31) mutation in peripheral blood on day +100 and +180 after AHSCT.
|
28714945 |
2017 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in Janus Kinase-2 (JAK2), calreticulin (CALR) and myeloproliferative leukemia protein (MPL) genes have been recently associated to MF and they all activate the JAK/STAT signaling pathway.
|
29123956 |
2017 |
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 |
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 |
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 |
These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
|
17408465 |
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Key differences from the 2011 diagnostic recommendations included: lower threshold values for hemoglobin and hematocrit and bone marrow examination for diagnosis of polycythemia vera (PV), according to the revised WHO criteria; the search for complementary clonal markers, such as ASXL1, EZH2, IDH1/IDH2, and SRSF2 for the diagnosis of myelofibrosis (MF) in patients who test negative for JAK2V617, CALR or MPL driver mutations.
|
29515238 |
2018 |
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Only about 10% of patients with myelofibrosis harbor alterations in MPL gene.
|
31446640 |
2019 |
Myelofibrosis
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
"Driver" mutations in JAK2, MPL and indels in CALR underlie the vast majority of cases of PMF and post-ET MF; the remainder (≈ 10%) lack identifiable driver mutations, but other clonal markers are usually detectable.
|
31630335 |
2020 |
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 |
Whether noncanonical and/or concomitant JAK2- and MPL-mutations exist in myelofibrosis (MF) regardless of phenotype-driver mutations is not yet elucidated.
|
31135094 |
2019 |
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 |
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 |