|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The calreticulin (CALR) exon 9 mutations are found in ∼30% of patients with essential thrombocythemia and primary myelofibrosis.
|
28676668 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Discovery of CALR mutations led to the increased molecular diagnostic of ET and PMF up to 90%.
|
26697989 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
Biomarker
|
disease |
BEFREE |
Driver mutations (JAK2V617F, MPLW515L/K or CALR), pentraxin-3 and C-reactive protein in essential thrombocythemia and polycythemia vera.
|
28228104 |
2017 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Levels of eNOS protein expression were stimulated by Calreticulin mutations in granulocytes of essential thrombocythemia.
|
27341002 |
2017 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report the data of 183 patients diagnosed with ET strictly according to the WHO 2008 criteria and with a full molecular diagnosis, including the following: 114 patients (62·3%) with JAK2V617F; 25 (13·7%) with CALR type 1 and 19 (10·4%) with CALR type 2; 3 (1·6%) with MPL; 22 (12%) who were 3NEG.
|
27271054 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cases included low thrombotic risk essential thrombocythemia (ET) with either JAK2V617F or CALR mutation, polycythemia vera with ExT either with or without leukocytosis, an ET patient needing urgent orthopedic surgery, and a poorly controlled ET patient with acute cerebral venous sinus thrombosis.
|
27734130 |
2017 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Compared with PV and ET, the JAK2V617F and CALR mutated allele burden was significantly higher in PPV-MF and/or PET-MF, indicating a role for accumulation of mutated alleles in the process of transformation to MF.
|
27037840 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF.
|
24957246 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The secondary objectives were to evaluate the accuracy of CALR mutation analysis by high-resolution melting (HRM) analysis and real-time polymerase chain reaction (PCR) compared with DNA sequencing and to compare clinical characteristics of CALR mutated and JAK2V617F mutated ET.
|
29521158 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Amongst persons with CALR mutations, those with PMF had different clinical features from those with ET.
|
25746303 |
2015 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate the consequences of heterozygous and homozygous CALR mutations and provide a powerful model for dissecting the pathogenesis of CALR-mutant ET and PMF.
|
29282219 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
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 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin mutations and long-term survival in essential thrombocythemia.
|
24791854 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that JAK2V617F-positive ET patients and CALR mutation-positive patients have different mechanisms of occurrence and clinical features of ET, suggesting the potential need for therapy stratification in the future.
|
26614694 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Compared to non-46/1 haplotype, the presence of 46/1 haplotype had a trend to have higher white blood cell count in JAK2V617F-mutated PV and ET patients but not in CALR-mutated ET.
|
25976465 |
2015 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin-mutated ET appears to be a distinct entity with a more indolent course.
|
24627549 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The frequency of CALR mutations was 20.3% in 123 MPN patients; 31.1% in ET (n=74), 25% in primary myelofibrosis (n=4) and 2.2% in polycythemia vera (n=45).
|
27486987 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Many studies have reported important diagnostic and prognostic significance of CALR mutations in ET and PMF patients and CALR mutation screening has been proposed to be incorporated into WHO diagnostic criteria for MPN.
|
27039813 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The only mutation found in the CALR gene was a frameshift (p.L367 fs) in one ET patient.
|
25858548 |
2015 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we performed for the first time a manual and automated quantitative assessment of the CALR mutation load at protein level using CAL2, a recently developed CALR mutation specific monoclonal antibody, on a cohort of 117 patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) and compared the CALR protein mutation loads with the CALR mutation load values established by a molecular assay.
|
30606612 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CALR mutations were more frequent in post-ET MF compared with ET (P = .04).
|
27124925 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Compared with those patients with JAK2V617F mutation, CALR-mutated ET patients displayed unique hematological phenotypes, including higher platelet counts, and lower leukocyte counts and hemoglobin levels.
|
26375990 |
2015 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CALR mutations were present in 44% of ET (15/34), 14% of persistent thrombocytosis suggestive of MPN (3/21) and none of the secondary thrombocytosis (0/98).
|
25068507 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CALR or MPL are present as driving mutations in the majority of remaining ET and PMF patients.
|
30558676 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the size of the mutated clone in chronic phase MPN is different according to genotype with CALR-mutated ET showing a pattern similar to that observed in MF.
|
27427771 |
2016 |