|
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 |
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 |
The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM.
|
12007509 |
2002 |
|
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 |
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 |
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
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
These findings demonstrate that the ACB-PCR assay combined with ESMA is a rapid and highly sensitive approach for detection of KIT D816V in SM patients.
|
17040960 |
2006 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
In most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V.
|
16189265 |
2006 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
In a majority of all patients with systemic mastocytosis (SM) including those with mast cell leukemia (MCL), neoplastic mast cells (MC) display the D816V-mutated variant of KIT.
|
18024392 |
2007 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities.
|
17628645 |
2007 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition, EXEL-0862 induced a time- and dose-dependent proapoptotic effect in both mast cell lines and caused a significant reduction in mast-cell content in bone marrow samples from patients with SM harboring D816V and from those without the D816V mutation.
|
16912224 |
2007 |
|
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 |
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 |
Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mutation.
|
18931652 |
2008 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V.
|
18165278 |
2008 |
|
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 |
Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816V.
|
19893034 |
2009 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
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
|
|
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 |
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
|
|
Mastocytosis, Systemic
|
|
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
|
|
Mastocytosis, Systemic
|
|
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 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
INNO-406 was found to inhibit proliferation in HMC-1.1 cells (IC(50): 30-40 nM), but not in HMC-1.2 cells or primary neoplastic cells in patients with KIT D816V-positive SM.
|
20685234 |
2010 |
|
rs121913682
|
|
Mastocytosis, Systemic
|
|
0.800 |
GeneticVariation
|
BEFREE |
KIT D816V mutation has been observed in more than 90% of patients with systemic mastocytosis (SM).
|
20038218 |
2010 |