|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Using highly sensitive assays, KIT D816V can be detected in peripheral blood leukocytes from most patients with systemic mastocytosis (SM) that is a major step forward in screening and SM diagnosis.
|
25650093 |
2015 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate clinical suspicion and pathologic evaluation by tryptase and CD25 IHC and KIT D816V mutation analysis.
|
26276780 |
2015 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
D816V KIT mutation, found in ∼80% of SM, is resistant to the currently available tyrosine kinase inhibitors (TKIs) (e.g. imatinib mesylate).
|
25088577 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
We therefore conclude that RQ-PCR assays for KIT D81</span>6V are useful complimentary tools for diagnosis, disease monitoring, and evaluation of prognosis in patients with SM.
|
24281161 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our findings warrant a clinical trial of ponatinib in patients with systemic mastocytosis harboring D816V KIT.
|
24552773 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
In both conditions, an aberrantly activated oncoprotein with tyrosine kinase activity, namely BCR-ABL1 in chronic myeloid leukemia, and mutant KIT, mostly KIT D816V, in systemic mastocytosis, is key to disease evolution.
|
24598853 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
To conclude, the KIT D816V burden correlates with the variant of mastocytosis, predicts survival, and is a valuable follow-up parameter in SM.
|
24750133 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis.
|
25034364 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our data show that KIT D816V is a disease-propagating oncoprotein, but it does not activate MCs to release proinflammatory mediators, which may explain why mediator-related symptoms in SM occur preferentially in the context of a coexisting allergy.
|
24677542 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
In this report, we demonstrate the cooperation between KIT D816V and loss of function of TET2 in mast cell transformation and demonstrate a more aggressive phenotype in a murine model of SM when both mutations are present in progenitor cells.
|
24788138 |
2014 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Most adults with indolent SM carry the KIT D816V mutation.
|
23621866 |
2013 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Here, the authors report significant symptomatic, cutaneous and systemic response to imatinib in a case of childhood onset indolent D816V KIT unmutated systemic mastocytosis (SM).
|
23659595 |
2013 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
The KIT D816V mutation is consistently present in lesional skin in adults with SM.
|
23774045 |
2013 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and to suboptimal responses to diverse therapies, we analyzed 39 KIT D816V mutated patients with indolent SM (n = 10), smoldering SM (n = 2), SM with associated clonal hematologic nonmast cell lineage disorder (SM-AHNMD, n = 5), and aggressive SM (n = 15) or mast cell leukemia (n = 7) with (n = 18) or without (n = 4) AHNMD for additional molecular aberrations.
|
23958953 |
2013 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
The analysis of bone marrow and peripheral blood samples of patients with SM showed KIT surface level increase for patients with the KIT D816V mutation but not for patients who had no KIT mutation.
|
23127495 |
2013 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells.
|
23743299 |
2013 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
GEP analyses were performed by using DNA-oligonucleotide microarrays in highly purified BMMCs from patients with SM carrying the D816V KIT mutation (n=26) classified according to the diagnostic subtype of SM versus normal/reactive BMMCs (n=7).
|
23403045 |
2013 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
We conclude that decreased phosphorylation and increased levels of Bim overcome the prosurvival effect of the D816V mutation and that the results warrant further investigations of the clinical effects of proteasomal inhibition in systemic mastocytosis.
|
23152053 |
2012 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
The presence of the KIT D81</span>6V mutation in the CBF AML subgroup can therefore not be considered indicative of associated SM.
|
22145956 |
2012 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) immature phenotype of BMMC, in the absence of coexisting normal MC in the BM, was associated with multilineage involvement by the D816V KIT mutation, regardless of the diagnostic subtype of the disease (for example, indolent vs aggressive SM), which supports the utility of the immunophenotype of BMMC as a surrogate marker to screen for multilineage KIT mutation in ISM.
|
22051531 |
2012 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions resulting in systemic mastocytosis (SM) and chronic eosinophilic leukemia, respectively.
|
22449623 |
2012 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Finally, the assay is suitable for use in prospective studies of the KIT D816V allele burden as a treatment endpoint in SM.
|
21354053 |
2011 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-positive systemic mastocytosis.
|
21457934 |
2011 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
The data from these studies indicate that, apart from KIT(D816V), other kinase targets and target pathways may play a role in disease evolution and progression, especially in patients with SM with an associated clonal hematological non-mast cell lineage disease (SM-AHNMD).
|
21641642 |
2011 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
KIT-D816V-independent oncogenic signaling in neoplastic cells in systemic mastocytosis: role of Lyn and Btk activation and disruption by dasatinib and bosutinib.
|
21680801 |
2011 |