|
rs121913682
|
|
Mastocytosis, Systemic
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosis.
|
18559612 |
2008 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results suggest that both methods provide clinically useful and complementary information through the identification and/or quantification of the KIT D816V mutation in peripheral blood of patients suspected of systemic mastocytosis.
|
26067933 |
2015 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Asp-816-->Val with a subset of sporadic persistent (systemic) mastocytosis (mostly adults), and Gly-839-->Lys with (a subset of) typical pediatric (mostly cutaneous) mastocytosis.
|
10529583 |
1999 |
|
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 |
DCC-2618 is a spectrum-selective pan KIT and PDGFRA inhibitor which blocks KIT D816V and multiple other kinase targets relevant to systemic mastocytosis.
|
29439183 |
2018 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
While KIT D816V is commonly regarded as the driver mutation, the clinical presentation of SM is extremely varied.
|
30849188 |
2019 |
|
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 |
The identification of KIT D816V mutation and the emergence of novel targeted therapies have significantly improved the diagnosis and treatment of systemic mastocytosis.
|
30545997 |
2018 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
A case of systemic mastocytosis carrying the characteristic mutation at codon 816 (D816V) in the KIT gene of mast cells, with two concurrent accompanying clonal haematopoietic non-mast cell-lineage disorders, chronic myeloproliferative disease, unclassifiable and precursor B lymphoblastic leukaemia is documented.
|
18663058 |
2008 |
|
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 |
Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event.
|
25567135 |
2015 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
The Asp816Val mutation in the catalytic domain of the c-kit receptor has been identified in patients with systemic mastocytosis.
|
9827716 |
1998 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val.
|
9858225 |
1998 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Dasatinib has in vitro and in vivo efficacy in SM-AML patients with KIT(D816V) mutation.
|
18986703 |
2009 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
In summary, digital PCR-based KIT D816V mutation burden measurement in the tissue represents a novel biomarker with independent prognostic significance that can also be employed for monitoring disease progression and treatment response in systemic mastocytosis.
|
31018976 |
2020 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Because the D816V mutation was detected in the initial bone marrow specimen, strict application of three minor diagnostic criteria (spindling, CD25, D816V) enabled a diagnosis of SM-AML to be confirmed retrospectively in the initial bone marrow tissue.
|
14990611 |
2004 |
|
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 |
In a phase I trial of avapritinib (formerly BLU-285), which targets D816V mutant KIT, for the treatment of advanced systemic mastocytosis, patients experienced rapid and durable disease control.
|
29233825 |
2018 |
|
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 activating point mutation D816V was detected in 8/11 patients with SM but not in any of the other haematological malignancies.
|
16505282 |
2006 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Here we investigated IL1β, IL6, IL13, CCL23 and clusterin plasma levels in 75 SM patients--66 indolent SM (ISM) and 9 aggressive SM--and analyzed their prognostic impact among ISM cases grouped according to the extent of hematopoietic involvement of the bone marrow cells by the KIT D816V mutation.
|
26153655 |
2016 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes.
|
29331029 |
2018 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
In summary, our data show that KIT D816V in AML is highly associated with co-existing SM (SM-AML).
|
20471335 |
2010 |
|
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 |
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 |