Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Unique frameshift mutations in the calreticulin (CALR) gene, which encodes an endoplasmic reticulum (ER)-localized molecular chaperone, have been identified in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF), which are subgroups of myeloproliferative neoplasms (MPNs).
|
31848992 |
2020 |
Primary Myelofibrosis
|
0.800 |
AlteredExpression
|
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frameshifting mutations (-1/+2) of the calreticulin (CALR) gene are responsible for the development of essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
31471561 |
2020 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Effect of CALR and JAK2 mutations on the clinical and hematological phenotypes of the disease in patients with myelofibrosis - long-term experience from a single center.
|
29534592 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
AML transformation occurred faster in SMF than in PMF and patients who transformed to AML were more SRSF2-mutated and less CALR-mutated at MF sampling.
|
31340059 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Constitutive p-STAT5 values were lower in CALR than homozygous JAK2V617F mutated CD34+ cells from PMF patients.
|
31369569 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin (CALR) exon 9 frameshift mutations have recently been identified in 30-40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) without JAK2 or MPL mutations.
|
30080988 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation loads of the CALR mutations were between 13% and 94% with mean value in PMF cases significantly higher than ET cases (49.94 vs 41.09; t-test, p=0.004).
|
30606612 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Randomly microdissected TRAP<sup>+</sup> OCs from 16 MF patients harbored <i>JAK2</i> or calreticulin (<i>CALR</i>) mutations, confirming MF OCs are clonal.
|
30745304 |
2019 |
Primary Myelofibrosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We performed Sanger sequencing of exon 9 of CALR gene in blood samples obtained from 33 Moroccan patients with ET or PMF non-mutated for JAK2.
|
28340692 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Along with these results, a second review of bone marrow histology, flowcytometry and the detection of a calreticulin gene (<i>CALR</i>) mutation helped with the correct diagnosis of PMF.
|
31371984 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One hundred five Philadelphia-negative MPN patients, including polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF) were initially screened for JAK2 mutations by amplification-refractory mutation system (ARMS-PCR) methodology and were further subjected to detection of CALR gene mutations by our in-house assay, a PCR based amplicon length differentiation assay (PCR-ALDA).
|
31248375 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frameshift mutations in the calreticulin (CALR) gene are present in 30% of essential thrombocythemia and myelofibrosis patients.
|
30846848 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thirty-one JAK2V617F-negative PMF and ET were evaluated for CALR mutation status.
|
31478923 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, we tested the combined effect of busulfan and veliparib on CD34<sup>+</sup> cells obtained from the bone marrow or peripheral blood of 5 patients with JAK2<sup>V617F</sup>-mutated and 2 patients with CALR-mutated MF.
|
30615982 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The CALR mutation occurred at a frequency of 0.0% in PV, whereas in ET, it ranged from 12.6 to 50%, and in PMF, it ranged from 10 to 100%.
|
31208359 |
2019 |
Primary Myelofibrosis
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Notably, mutations in chromatin regulators ASXL1 and/or EZH2 were identified as the first genetic lesions, preceding both JAK2-V617F and CALR mutations, and are thus drivers of clonal myelopoiesis in a PMF subset.
|
29907810 |
2019 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CALR type 1-like mutation was the dominant subtype in CALR-mutated overt PMF patients.
|
29464483 |
2018 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
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 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of particular importance, CALR mutations grant a favorable prognosis in ET and PMF, while ASXL1 mutations confer a poorer outcome.
|
30502850 |
2018 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we generated an induced Pluripotent Stem (iPS) cell line derived from a 65-year old male PMF patient carrying the 5-pb insertion in the CALR gene (CALR<sup>ins5</sup>) and the c.437 G > A mutation in the TP53 gene (p.W146X).
|
30343103 |
2018 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes.
|
29047144 |
2018 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The calreticulin (CALR) exon 9 mutations are found in ∼30% of patients with essential thrombocythemia and primary myelofibrosis.
|
28676668 |
2018 |
Primary Myelofibrosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also found that calreticulin (CALR) mutations were related to reduced S100A8 plasma levels in primary myelofibrosis (PMF).
|
29946821 |
2018 |