|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome.
|
28629749 |
2018 |
|
rs121913682
|
|
|
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 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene.
|
25582384 |
2015 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, for example, in SRSF2, ASXL1, or RUNX1.
|
29341334 |
2018 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The KIT D816V mutation is consistently present in lesional skin in adults with SM.
|
23774045 |
2013 |
|
rs121913682
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V, which confers resistance to imatinib.
|
20553795 |
2010 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This medication inhibits the notoriously resistant Kit D816V mutant and is approved for the treatment of systemic mastocytosis and is effective against tumors bearing the D816V activation/resistance mutation.
|
29704617 |
2018 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The high frequency of KIT(D816V) in neoplastic mast cells and leukaemic myelomonocytic cells in SM-CMML may point to a common precursor in these patients, and may have implications for the biology of the disease and the development of KIT-targeting therapies.
|
20112369 |
2010 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our results show the presence of D816V KIT mutation in virtually all adults (93%) with indolent and aggressive forms of SM, except well-differentiated SM (29%), while other KIT mutations were rarely (< 3%) detected.
|
16741248 |
2006 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816V.
|
19893034 |
2009 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our findings warrant a clinical trial of ponatinib in patients with systemic mastocytosis harboring D816V KIT.
|
24552773 |
2014 |
|
rs121913682
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mutation.
|
18931652 |
2008 |
|
rs121913682
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Six other patients reported symptomatic improvement, including two with D816V KIT mutation-positive SM (one reported improvement in diarrhea and the other in fatigue).Other patients had no benefit.Imatinib was relatively well tolerated.
|
19193436 |
2009 |
|
rs121913682
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V <i>KIT</i> mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms.
|
28439288 |
2017 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We found that in SM 60-99% of the mast cells harboured the KIT D816V mutation.
|
30975542 |
2019 |
|
rs121913682
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In summary, we have identified CCL2 as a novel KIT D816V-dependent key regulator of vascular cell migration and angiogenesis in SM.
|
27856463 |
2017 |
|
rs121913682
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This is typified by midostaurin, which has been approved by the US Food and Drug Administration for mutant FLT3-positive AML and for KIT D816V-positive SM.
|
31309543 |
2019 |
|
rs121913682
|
|
|
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
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Investigation for presence of the activating KIT point mutation D816V is very helpful to establish a correct diagnosis of SM in all the difficult cases exhibiting a low degree of bone marrow infiltration or puzzling morphological findings.
|
20616612 |
2010 |