|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study thus supports a role for mast cells and D816V-KIT activity in IL-6 dysregulation in mastocytosis and provides insights into the intracellular mechanisms.
|
30948489 |
2020 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We propose considering the KIT mutation status and bone marrow tryptase levels to aid the diagnosis of isolated CM in adult mastocytosis patients.
|
31009132 |
2019 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 and KIT Exon 8 mutation is associated with characteristic mastocytosis and dismal outcomes.
|
31004601 |
2019 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene.
|
31522012 |
2019 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the tyrosine kinase receptor KIT have been described in both mastocytosis and gastrointestinal stromal tumors (GIST), but are usually found in separate domains and often respond differently to signal transduction inhibitors.
|
31109590 |
2019 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This review provides an overview of the role of KIT mutations in mastocytosis and anaphylaxis, and highlights emerging therapies for mastocytosis, targeting these mutations.
|
31028494 |
2019 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Primary disorders causing constitutively hyperactivity of mast cells are called mastocytosis and are frequently due to a gain-of-function mutation of the KIT gene encoding the transmembrane tyrosine kinase receptor.
|
30350746 |
2018 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that although activating c-KIT mutations are associated with mast cell growth, other genes probably play a role in the cause of mastocytosis.
|
29350409 |
2018 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The use of allele-specific quantitative polymerase chain reaction to identify KIT D816V in the peripheral blood of adults with mastocytosis has been reported to have value in the diagnosis, assessment of disease burden and management of this disease.
|
30488427 |
2018 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
SLAM family member 8 is involved in oncogenic KIT-mediated signalling in human mastocytosis.
|
29498772 |
2018 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, the ROSA<sup>KIT D816V</sup> subclone has been successfully used to generate a unique <i>in vivo</i> model of advanced mastocytosis by injection into immunocompromised mice.
|
29976735 |
2018 |
|
Mastocytosis
|
1.000 |
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
|
1.000 |
Biomarker
|
disease |
BEFREE |
Tyrosine Kinase Inhibition in Mastocytosis: KIT and Beyond KIT.
|
30007468 |
2018 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation.
|
29643855 |
2018 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
The KIT and PDGFRA switch-control inhibitor DCC-2618 blocks growth and survival of multiple neoplastic cell types in advanced mastocytosis.
|
29439183 |
2018 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CEACAM1 knockdown upregulated cell growth of HMC1.2 cells harboring KIT mutations detected in clinical mastocytosis, whereas downregulated the growth of TT cells harboring RET mutations detected in clinical MTCs.
|
28332308 |
2017 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we demonstrate that crenolanib targets KIT D816 in SM and CBF AML models: crenolanib inhibits cellular proliferation and initiates apoptosis of mastocytosis cell lines expressing these mutations.
|
29137311 |
2017 |
|
Mastocytosis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We previously reported a mouse model of mastocytosis based on conditional expression of a constitutively active Kit protein.
|
27664314 |
2017 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It is most often an acquired condition but can be inherited; the most commonly identified genetic aberrations leading to mastocytosis are activating mutations involving codon 816 of the KIT gene.
|
28520972 |
2017 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
This might explain at least in part why treatment with KIT inhibitors alone so far has been disappointing in most published clinical trials for mastocytosis.
|
29088753 |
2017 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in KIT play an important role in diagnosis and prognosis of multiple malignancies including mastocytosis, gastrointestinal stromal tumors, and a subset of melanoma and acute myeloid leukemia.
|
27258816 |
2016 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We thereby demonstrate that caution should be taken when using the potentially very sensitive NGS technique for KIT D816V mutation analysis in mastocytosis, as many patients with SM have D816V mutation levels below the detection limit of NGS.
|
26095448 |
2016 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TRAIL-R1 may represent an attractive diagnostic and therapeutic target in diseases associated with KIT mutations, such as mastocytosis.
|
25833810 |
2015 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.
|
26158763 |
2015 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We here propose a consensus on methodologies used to detect KIT mutations in patients with mastocytosis at diagnosis and during follow-up with sufficient precision and sensitivity in daily practice.
|
25650093 |
2015 |