Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The discovery of KIT mutations as central to the pathobiology of mastocytosis has prompted development of KIT-targeted agents, including imatinib and midostaurin (approved medications for patients with advanced systemic mastocytosis), and drugs in development, like KIT D816V-specific inhibitor avapritinib.
|
30007460 |
2018 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We recently introduced the D816V+ allele fraction as a disease marker in SM using a sensitive and quantitative KIT D816V mutation analysis that consistently allows mutation detection in peripheral blood (PB) and bone marrow (BM).
|
23621866 |
2013 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The prognostic impact of c-KIT mutation in systemic mastocytosis associated with acute myeloid leukaemia patients.
|
23683787 |
2013 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The majority of patients with systemic mastocytosis exhibit a D816V mutation in the activating loop of the Kit receptor expressed on mast cells.
|
23152053 |
2012 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Well-differentiated systemic mastocytosis (WDSM) is a rare variant of systemic mastocytosis (SM) characterized by bone marrow (BM) infiltration by mature-appearing mast cells (MCs) often lacking exon 17 KIT mutations.
|
26100086 |
2016 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
We conclude that EXEL-0862 is active against KIT activation loop mutants and is a promising candidate for the treatment of patients with SM and other KIT-driven malignancies harboring active site mutations.
|
16912224 |
2007 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
We examined expression of SIRPalpha, SIRPalpha ligand CD47, and Src homology 2 domain-containing protein tyrosine phosphatase-1 (SHP-1), a tyrosine phosphatase-type, negative regulator of KIT-dependent signaling, in normal human lung mast cells (HLMC) and neoplastic MC obtained from nine patients with SM.
|
15784688 |
2005 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report two cases of AML t(8;21) associated SM that KIT mutation occurred in exon 8 (T417_D419delinsY).
|
31004601 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells.
|
23743299 |
2013 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An acquired somatic mutation at codon 816 in the KIT receptor tyrosine kinase is associated with poor prognosis in patients with systemic mastocytosis and acute myeloid leukemia (AML).
|
24091327 |
2013 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ours is the the first case report in the literature of an adult with systemic mastocytosis likely due to a p.Arg634Trp KIT mutation.
|
28520972 |
2017 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Systemic mastocytosis associated with t(8;21) acute myeloid leukemia in a child: detection of the D816A mutation of KIT.
|
22847983 |
2012 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis.
|
21134978 |
2011 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A KIT M541L variant in SM was identified in leukemic cells, normal hematopoietic cells, and buccal mucosal cells, suggesting a germline polymorphism.
|
30044348 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, our data show that KIT D816V in AML is highly associated with co-existing SM (SM-AML).
|
20471335 |
2010 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Together, KIT-independent signaling via Lyn/Btk contributes to growth of neoplastic MCs in advanced SM.
|
21680801 |
2011 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
We exploit these findings to validate a combination treatment strategy targeting the epigenetic deregulation caused by loss of TET2 and the constitutively active KIT receptor for the treatment of patients with aggressive SM.
|
24788138 |
2014 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene.
|
12091362 |
2002 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic activating mutations in the mast cell growth factor KIT gene cause cutaneous mastocytosis in young children and systemic mastocytosis with a more guarded prognosis in adults who may also harbor other gene mutations with oncogenic potential as they age.
|
30390314 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we demonstrate that crenolanib is an inhibitor of mutant-KIT D816 isoforms at clinically achievable concentrations, and thus may be a potential treatment for SM and CBF AML as a monotherapy or in combination approaches.
|
29137311 |
2017 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
MCP purity (CD117 and Lin2), maturity (CD34 and FcεRI), interaction receptors and ligands (CD154 and HLA-DR), and SM-specific (CD2 and CD25) markers were measured using flow cytometry.
|
29223146 |
2018 |