|
Thrombocythemia, Essential
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Essential thrombocythaemia with mutation in <i>MPL</i>: clinicopathological correlation and comparison with <i>JAK</i>2V617F-mutated and <i>CALR-</i>mutated genotypes.
|
29934356 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin (CALR) mutations were recently described in JAK2 and MPL unmutated primary myelofibrosis (PMF) and essential thrombocythemia.
|
24402162 |
2014 |
|
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 |
Calreticulin mutations and long-term survival in essential thrombocythemia.
|
24791854 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin mutational load influenced blood counts even at the time point of diagnosis in essential thrombocythemia.
|
24895336 |
2014 |
|
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 |
Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations.
|
25139350 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin (CALR) mutations have been reported in Janus kinase 2 (JAK2)- and myeloproliferative leukemia (MPL)-negative essential thrombocythemia and primary myelofibrosis.
|
25305205 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CALR mutations characterize a distinct group of Korean ET and PMF patients.
|
26130950 |
2015 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin mutation burden--is it a stable clone in patients with essential thrombocythemia and myelofibrosis?
|
26460248 |
2015 |
|
Thrombocythemia, Essential
|
0.600 |
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
CALR, JAK2V617F, and MPLW515 mutations were detected in 30% (n = 92), 48% (n = 149), and 1% (n = 4) of patients with ET, respectively.
|
27453224 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis.
|
27716741 |
2016 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CALR mutations appear to be a favorable prognostic factor in PMF, which has not been clearly demonstrated in ET.
|
28948488 |
2017 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A comparison of HCT or Hb values with the expression of JAK2V617F, JAK2 exon 12, and CALR mutations in strictly WHO-defined 257 overt PV and 140 mPV (59 mPV according to BCSH) and 397 patients with essential thrombocythemia (ET) was performed.
|
24535932 |
2014 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen.
|
27909216 |
2017 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although it needs to be confirmed with a larger number of ET patients treated with anagrelide, we suggest that mutational status should be considered carefully when deciding on the most appropriate therapy for each patient, mainly because anagrelide alone was not able to achieve an appropriate hematological response in CALR-mutated ET cases.
|
27041108 |
2016 |
|
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 |
As a whole, these data support the model that CALR-mutated ET could be considered as a distinct disease entity from JAK2V617F-positive MPNs and may provide the molecular basis supporting the different clinical features of these patients.
|
29217833 |
2017 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
As such, CALR first, followed by MPL if CALR is absent, mutation screening is appropriate in the diagnostic work-up of JAK2-unmutated ET but does not replace the need for BM morphologic examination in (1) confirming the diagnosis in triple-negative ET and (2) distinguishing ET from other myeloproliferative neoplasms that share the same mutations, including masked PV and early/prefibrotic myelofibrosis.
|
26355403 |
2015 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
As the second most common mutation in BCR/ABL-negative MPNs, CALR mutation has been included in the latest World Health Organization (WHO) classification criteria as one of the main diagnostic criteria for both essential thrombocythemia (ET) and PMF.
|
29560522 |
2018 |
|
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 |
Collectively, our studies demonstrate that occasional patients with CALR mutation-positive ET or MF carry other MPN-initiating genetic mutations (including JAK2 V617F), acquire "secondary mutations" before or after the CALR mutation, or evolve over time to being CALR mutation-homozygous.
|
28168700 |
2017 |