Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A high allele burden of the KIT D816V mutation in peripheral blood or bone marrow aspirates indicates multi-lineage hematopoietic involvement and has been associated with an aggressive clinical course of systemic mastocytosis.
|
31018976 |
2020 |
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 |
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 |
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 |
Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis.
|
30911112 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While KIT D816V is commonly regarded as the driver mutation, the clinical presentation of SM is extremely varied.
|
30849188 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Imatinib has a limited therapeutic role in SM; effective cytoreduction is limited to those with imatinib-sensitive KIT mutations.
|
30536695 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found that in SM 60-99% of the mast cells harboured the KIT D816V mutation.
|
30975542 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A screen of two independent AML databases (AML<sup>databases</sup>) revealed remarkable similarities between KIT D816<sup>mut</sup>/CBF<sup>neg</sup> SM-AML and KIT D816<sup>mut</sup>/CBF<sup>neg</sup> AML<sup>databases</sup> (n = 69) with regard to KIT D816<sup>mut</sup> variant allele frequency, mutation profile, aberrant karyotype, and OS suggesting underlying SM in a significant proportion of AML<sup>databases</sup> patients.
|
30635631 |
2019 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although the pathogenesis of SM is multi-factorial, the acquisition of KIT D816 V is a relatively frequent mutational event and serves as the target of novel agents.
|
30978435 |
2019 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Skin KIT mutation (OR: 51.9, 95% CI: 3.9-678, P = 0.001) and high bone marrow tryptase (OR: 97.4, 95% CI: 10.3-915, P = 0.001) were strong predictors of SM.
|
31009132 |
2019 |
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 |
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 |
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 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
We analyzed cytogenetic and molecular characteristics of 109 patients (KIT D816V+, n = 102, 94%) with indolent (ISM, n = 26) and advanced SM (n = 83) with (n = 73, 88%) or without AHN.
|
29341334 |
2018 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Clinical Validation of KIT Inhibition in Advanced Systemic Mastocytosis.
|
30155614 |
2018 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, HSCs in liver from mice injected with SM-EVs had increased expression of α-SMA and human KIT, particularly around portal areas, compared with mice injected with EVs from normal individuals, suggesting that SM-EVs can also initiate HSC activation in vivo.
|
30352845 |
2018 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
Mastocytosis, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Several years later, midostaurin was discovered to be a potent inhibitor of the FLT3 tyrosine kinase and to have activity against mutant forms of KIT proto-oncogene receptor tyrosine kinase, which drive advanced systemic mastocytosis (SM).
|
29487059 |
2018 |
Mastocytosis, Systemic
|
0.700 |
GeneticVariation
|
disease |
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 |
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 |
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 |