|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The classic myeloproliferative neoplasms (MPNs) include polycythemia vera and essential thrombocythemia; their molecular basis has been described only recently with the demonstration of recurrent mutations in JAK2 or MPL.
|
19789961 |
2010 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in the calreticulin (CALR) gene were recently discovered in patients with sporadic essential thrombocythemia (ET) and primary myelofibrosis (PMF) lacking JAK2 and MPL mutations.
|
24553179 |
2014 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The detection rates of MPL W515 mutations were 3.5% in 199 ET patients (7/199), 12.5% in 24 PMF patients (3/24) and 5.6% in 36 cMPD-unclassed patients (2/36), respectively.
|
19274616 |
2010 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MPL W515L mutation in pediatric essential thrombocythemia.
|
23441089 |
2013 |
|
Thrombocythemia, Essential
|
0.500 |
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 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Spontaneous regression of essential thrombocythemia with MPL mutation on menopause.
|
24609764 |
2014 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively.
|
26501981 |
2015 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele.
|
23994117 |
2013 |
|
Thrombocythemia, Essential
|
0.500 |
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
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical Manifestation of Calreticulin Gene Mutations in Essential Thrombocythemia without Janus Kinase 2 and MPL Mutations: A Chinese Cohort Clinical Study.
|
27453224 |
2016 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia.
|
18519816 |
2008 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.
|
14764528 |
2004 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets.
|
20113333 |
2010 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2V617F, CALR, and MPL Mutations and Bone Marrow Histology in Patients with Essential Thrombocythaemia.
|
30404086 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
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 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia.
|
27855276 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, this is the first report describing a mutation in the extracellular domain of MPL underlying ET.
|
22389068 |
2012 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A minority of ET and PMF patients harbor mutations that constitutively activate the thrombopoietin receptor (TpoR).
|
18769448 |
2008 |
|
Thrombocythemia, Essential
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET).
|
25189723 |
2014 |
|
Thrombocythemia, Essential
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis.
|
21228032 |
2011 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) and MPL(W515) mutations at a similar rate to essential thrombocythaemia (ET).
|
19120370 |
2009 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, and 3% in ET, and 60%, 25%, and 7% in PMF.
|
26182311 |
2015 |