Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
In >95% of cases, mutations that drive the development of an MPN phenotype occur in a mutually exclusive manner in 1 of 3 genes: <i>JAK2</i>, <i>CALR</i>, or <i>MPL</i> The thrombopoietin receptor, MPL, is the key cytokine receptor in MPN development, and these mutations all activate MPL-JAK-STAT signaling in MPN stem cells.
|
28159736 |
2017 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in JAK2, MPL and CALR genes have been identified in the majority of myeloproliferative neoplasm (MPN) patients, and patients negative for these three mutations are the so-called triple-negative (TN) MPN.
|
28389907 |
2017 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNA-based FMCA for detecting common JAK2, MPL, and CALR mutations is a rapid, simple, and sensitive technique in BCR-ABL1-negative MPNs with >10% mutant allele at the time of initial diagnosis.
|
27939919 |
2017 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the combination of BMN673, ruxolitinib, and hydroxyurea was highly effective in vivo against JAK2(V617F)<sup>+</sup> murine MPN-like disease and also against JAK2(V617F)<sup>+</sup>, CALR(del52)<sup>+</sup>, and MPL(W515L)<sup>+</sup> primary MPN xenografts.
|
29042365 |
2017 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA from peripheral blood, bone marrow, and FFPE bone marrow clot preparations from 52 MPN specimens with known JAK2 and MPL mutation status and 29 non-MPN specimens was analyzed.
|
27018326 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Considering these results, we propose that mutant CALR promotes myeloproliferative neoplasm development by activating c-MPL and its downstream pathway.
|
26817954 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recent data have shown that MPL function is essential for CALR mutant-driven MPN.
|
27177927 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in CALR (calreticulin) have been discovered in 50% to 80% of JAK2 (Janus kinase 2) and MPL (myeloproliferative leukemia protein) wild-type patients with Philadelphia-negative myeloproliferative neoplasm (MPNs).
|
27686170 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
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 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Calreticulin (CALR) mutations are present in 50% to 85% of JAK2/MPL wild-type (wt) myeloproliferative neoplasms (MPNs).
|
27124925 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations other than JAK2, CALR and MPL have also been described in MPN and shown to provide additional prognostic information.
|
26492355 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2-mutated MPN showed erythroid, granulocytic and/or megakaryocytic hyperplasia whereas CALR- and MPL-mutated MPNs displayed granulocytic and/or megakaryocytic hyperplasia.
|
27444979 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
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 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Detection of CALR mutations in a cohort of JAK2/MPL-non-mutated patients with suspected MPN confirmed the diagnosis of MPN in around 53% of cases.
|
26555437 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Discovery in 2006 of mutants of thrombopoietin receptor (TPO-R/MPL) and later on of mutants in negative regulators of JAK-STAT pathway led to the notion that persistent JAK2 activation is a hallmark of MPNs.
|
26370832 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients.
|
25116092 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in the CALR gene were recently discovered in a substantial proportion of Philadelphia-negative chronic myeloproliferative neoplasm (cMPN) patients lacking JAK2 and MPL mutations.
|
25482455 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the frequency and type of CALR mutations, and clinical and hematological characteristics in WT JAK2(V617F) and MPL(W515K/L) MPN patients.
|
26227853 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent advances in the biology of MPNs have greatly facilitated their molecular diagnosis since most patients present with mutation(s) in the JAK2, MPL, or CALR genes.
|
26538820 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of JAK2/MPL mutations in patients with myeloproliferative neoplasms (MPN) has led to the clinical development of JAK kinase inhibitors, including ruxolitinib.
|
25572172 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential thrombocythemia [ET], 58 polycythemia vera [PV], and eight MPN-unclassifiable [MPN-U]) and 4 patients with acute panmyelosis with myelofibrosis (APMF) were retrospectively subjected to Sanger sequencing for CALR, JAK2, and MPL.
|
25873496 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Concurrence of B-lymphoblastic leukemia and myeloproliferative neoplasm with copy neutral loss of heterozygosity at chromosome 1p harboring a MPL W515S mutation.
|
25453399 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Somatic CALR exon 9 mutations have recently been identified in patients with JAK2/MPL-unmutated myeloproliferative neoplasm, and have become an important clonal marker for the diagnosis of essential thrombocythemia (ET) and primary myelofibrosis.
|
25447704 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis.
|
25195195 |
2014 |
Chronic myeloproliferative disorder
|
0.500 |
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 |