Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Activating mutation of KIT or PDGFRA is the primary molecular mechanism for gastrointestinal stromal tumors (GISTs).
|
31197522 |
2020 |
Gastrointestinal Stromal Tumors
|
0.800 |
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
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Most gastrointestinal stromal tumours (GIST) are driven by activating oncogenic mutations of KIT/PDGFRA, which provide a compelling therapeutic target.
|
31776458 |
2020 |
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
Coding exons of KIT and PDGFRA in GISTs with additional malignancies were sequenced.
|
30877378 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
FGF3/FGF4 duplication was associated with high expression of FGF4, both at mRNA and protein level, a growth factor normally not expressed in adult tissues or in KIT/PDGFRA-mutated GIST.
|
30887595 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Of the sporadic cases, one shared the same KIT gene mutation within each GIST and one had two lesions that were both wild-type for KIT and PDGFRA.
|
31413638 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Gastrointestinal stromal tumor (GIST) is a mesenchymal neoplasm characterized by activating mutations in the related receptor tyrosine kinases KIT and PDGFRA.
|
30630822 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Gene expression profiles (GEP) from 31 KIT/PDGFRA-mutant GIST were analyzed to evaluate the tumor microenvironment and immunotherapy predictive signatures such as the expanded IFN-γ-induced immune signature (EIIS) and the T-cell-inflamed signature (TIS).
|
31428517 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Through machine learning, we generated gene expression-based immune profiles capable of differentiating KIT and PDGFRA-mutant GISTs, and also identified additional immune features of high PD-1 and PD-L1 expressing tumors across all GIST mutational subtypes, which may provide insight into immunotherapeutic opportunities and limitations in GIST.
|
30762585 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
The pathogenetically heterogeneous KIT/PDGFRA-WT GISTs were also significantly MGMT-methylated (11/24-46%-, vs. 1/24-4%- of KIT/PDGFRA-mutant cases, p = 0.002).
|
30616628 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
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
|
0.800 |
Biomarker
|
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
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Most pediatric GISTs lack the c-kit or platelet-derived growth factor receptor alpha (PDGFRA) genes mutations.
|
30252568 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Mutually exclusive KIT and PDGFRA mutations are considered to be the earliest events in gastrointestinal stromal tumors (GIST), but insufficient for their malignant progression.
|
31553483 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
To investigate epigenetic alterations systematically, we mapped DNA methylation, CTCF insulators, enhancers, and chromosome topology in KIT-mutant, PDGFRA-mutant and SDH-deficient GISTs.
|
31666694 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Oncogenic KIT or PDGFRA tyrosine kinase mutations are compelling therapeutic targets in most gastrointestinal stromal tumors (GISTs), and the KIT inhibitor, imatinib, is therefore standard of care for patients with metastatic GIST.
|
31371779 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
The in vivo evidence that PDGFRA p.His845_Asn848delinsPro is sensitive to imatinib was confirmed by the molecular modelling, which may represent a reliable tool for the prediction of clinical outcomes and treatment selection in GIST, especially for rare mutations.
|
30778083 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Up to 85% of gastrointestinal stromal tumors (GIST) harbor mutually exclusive mutations in the KIT or the PDGFRA gene.
|
31124195 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
The prognosis and the clinical course of these tumors is different from that of KIT- or PDGFR-α-mutated GISTs.
|
31169996 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
One-third of gastrointestinal stromal tumors (GISTs) that lack KIT or PDGFRA mutations show succinate dehydrogenase (SDH) mutations or promoter hypermethylation.
|
31072206 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Gastrointestinal stromal tumors (GISTs) arise anywhere along the gastrointestinal tract, most commonly as a result of c-kit or PDGFRA proto-oncogene mutations.
|
31047041 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
For patients with PDGFRA D842V mutations, the next generation of drugs may become the first active treatment options.Comprehensive molecular testing of KIT/PDGFRA-wildtype GIST may unmask clinically relevant targets, including NTRK fusions.
|
31033566 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Sanger sequencing revealed that the GIST tumor cells contained a deletion mutation (c.2527_2538 del12,843-846del4), which was located in exon 18 of PDGFRA.
|
31647020 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
Imatinib mesylate (IM), which inhibits both KIT and PDGFRA receptors, significantly improved treatment of advanced (metastatic, recurrent, and/or inoperable) GISTs.
|
31708372 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Based on c-kit and DOG-1 immunoreactivity and a PDGFRA mutation (p.Trp559_Arg560del), the tumor was diagnosed as an epithelioid variant GIST.
|
31273885 |
2019 |