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 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
Our findings suggest that combinatorial inhibition of CK2 and KIT warrants evaluation as a novel therapeutic strategy in GIST, especially in imatinib-resistant GIST.
|
31776458 |
2020 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
This case illustrates that knowing the specific type of KIT mutations may uncover resistance of certain GIST's to TKIs, necessitating more targeted and alternative therapy.
|
31702819 |
2020 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Additional genetic events including RB1, SMARCB1, and MAX except secondary KIT/PDGFRA mutations are the most common for GISTs to evolve into resistant disease.
|
31758409 |
2020 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Gastrointestinal stromal tumors (GISTs) are one of the most common mesenchymal tumor types and usually contain KIT or PDGFRA mutations.
|
31570771 |
2020 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
WEE1 inhibition could promote KIT autophagic degradation and, therefore, targeting WEE1 might represent a novel strategy for GIST therapies.
|
31197522 |
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 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
We tested the activity of avapritinib, a potent and highly selective inhibitor of mutated KIT and PDGFRA, in three patient-derived xenograft (PDX) GIST models carrying different <i>KIT</i> mutations, with differential sensitivity to standard TKI.<b>Experimental Design:</b> NMRI <i>nu/nu</i> mice (<i>n</i> = 93) were transplanted with human GIST xenografts with <i>KIT</i> exon 11+17 (UZLX-GIST9 <i>
|
30274985 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (GISTs) constitute a small KIT/PDGFRA-WT GIST subgroup featuring DNA methylation which, although pervasive, appears nevertheless not randomly distributed.
|
30616628 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Ripretinib shows efficacy in preclinical cancer models, and preliminary clinical data provide proof-of-concept that ripretinib inhibits a wide range of KIT mutants in patients with drug-resistant GISTs.
|
31085175 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Around 90% of GISTs contain mutations in KIT or PDGFRA and the remaining 10% of GISTs are wild-type.
|
30003531 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
AlteredExpression
|
group |
BEFREE |
CeRNA Expression Profiling Identifies KIT-Related circRNA-miRNA-mRNA Networks in Gastrointestinal Stromal Tumour.
|
31552107 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Patients with KIT exon 11 mutations had better PFS compared to those with KIT exon 9 mutations or wild-type GISTs (p = .017, p = .040, respectively).
|
30346846 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Association between CT imaging features and KIT mutations in small intestinal gastrointestinal stromal tumors.
|
31076599 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
Furthermore, DEPDC5 modulates the sensitivity of GIST to KIT inhibitors, and the combination therapy with mTOR inhibitor and KIT inhibitor may work better in GIST patients with DEPDC5 inactivation.
|
31636198 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Approximately 15% of adult patients with GISTs are negative for mutations in KIT or PDGFRA genes.
|
31708372 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
The IHC characteristic of GIST in descending order showed positivity for vimentin (88.9%), CD117 (83.3%), CD34 (77.8%), Ki67 (63.9%), SMA (38.9%), desmin (27.8%), and S100 (19.4%).
|
30723856 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
Succinate dehydrogenase (SDH)-deficient GISTs are wild type and lack KIT proto-oncogene receptor tyrosine kinase and platelet-derived growth factor receptor A ( KIT or PDGFRA) mutations.
|
30301441 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
We performed RNA sequencing of 75 human GIST tumors from 75 patients, comprising the largest cohort of GISTs sequenced to date, in order to discover differences in the immune infiltrates of KIT and PDGFRA-mutant GIST.
|
30762585 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
Combinations with KIT or MEK inhibitors completely abrogated GIST-survival signaling and displayed synergistic effects.
|
31308077 |
2019 |
Gastrointestinal Stromal Tumors
|
1.000 |
AlteredExpression
|
group |
BEFREE |
Dual inhibition of KIT and MAPK pathways has synergistic antitumor activity in preclinical GIST models.
|
31213500 |
2019 |