|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively examined the clinical and biological characteristics of 13 patients with concomitant CLL and MPN--eight primary myelofibrosis (PMF), three essential thrombocytosis (ET), and two polycythemia vera (PV)--who presented to our institution between 1998 and 2014, and tested all patients for MPN-specific aberrations, such as JAK2, MPL and CALR mutations.
|
26402369 |
2016 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As a result, one previously unrecognized MPL mutation (12-bp in-frame insertion) was identified in one patient with ET in addition to an MPLW515K mutation identified in one PMF patient.
|
21555228 |
2011 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Anaemia characterises patients with myelofibrosis harbouring Mpl mutation.
|
17408465 |
2007 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin/MPL (CALR) is the second most frequent mutation and occurs in half of JAK2 and MPL wild-type patients with ET and PMF.
|
27067982 |
2016 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
|
17408465 |
2007 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in exon 10 of the MPL (myeloproliferative leukemia virus oncogene) gene, mainly substitutions encoding W515 variants, have recently been described in a minority of patients with ET or PMF.
|
23065476 |
2012 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The recent discovery of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients without JAK2/MPL mutations has emerged as a relevant finding for the molecular diagnosis of these myeloproliferative neoplasms (MPN).
|
25068507 |
2014 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia.
|
19261614 |
2009 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF.
|
18754026 |
2008 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A number of phenotypic driver (JAK2, CALR, MPL) and additional subclonal mutations have been described in PMF, pointing to a complex genomic landscape.
|
26547506 |
2016 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Only about 10% of patients with myelofibrosis harbor alterations in MPL gene.
|
31446640 |
2019 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential thrombocythemia who lack the JAK2 V617F mutation.
|
23994117 |
2013 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF.
|
18754026 |
2008 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied mutations of MPL exon 10 in patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), first investigating a cohort of 892 consecutive patients.
|
23575445 |
2013 |
|
Primary Myelofibrosis
|
1.000 |
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 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In fact, exome sequencing revealed that most patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) lacking JAK2 or MPL mutations, harbor somatic insertion and/or deletion in exon 9 of CALR gene.
|
28340692 |
2019 |