|
Myelofibrosis
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
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 |
|
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 |
ABSTRACT: Background The BCR-ABL-negative myeloproliferative neoplasms, i.e., polycythemia vera, essential thrombocythemia (ET), and myelofibrosis (MF), are characterized by mutations in JAK2, CALR, or MPL.
|
30889303 |
2019 |
|
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 |
CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons.
|
24402162 |
2014 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Correction: Myeloproliferative leukemia protein activation directly induces fibrocyte differentiation to cause myelofibrosis.
|
30232464 |
2018 |
|
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 |
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 |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Immune thrombocytopenia is associated with persistently deranged fibrosis-related seromarker profiles but low bone marrow fibrosis grades: A 2-year observational study on thrombopoietin receptor agonist treatment.
|
29293383 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Only about 10% of patients with myelofibrosis harbor alterations in MPL gene.
|
31446640 |
2019 |
|
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 |
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 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 |
The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis.
|
20151976 |
2010 |