|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest similar phenotypes, including hypermethylated epigenomic signatures, tendency to occur in pediatric patients, and lack of KIT/PDGFRA mutations. dSDH GISTs often harbor deleterious mutations in SDH subunit genes (SDHA, SDHB, SDHC, and SDHD, termed SDHx), but some are SDHx wild type (WT).
|
25540324 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal (GI) tract, and the majority contain KIT or PDGFRA activating mutations.
|
21400668 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
All GISTs diagnosed in Southern Switzerland (1999-2005) were identified using Ticino Cancer Registry and analysed for c-kit and PDGFRA mutations.
|
18785120 |
2008 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
An additional p.D38V missense mutation in SDHA exon 2 was identified by Sanger sequencing in the extended KIT/PDGFRA WT GIST patients cohort.
|
22974104 |
2012 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Interesting data have been reported also on IGF1r in gastrointestinal stromal tumors (GISTs) especially in children and in young adult patients whose disease does not harbour mutations on KIT and PDGFRA and are poorly responsive to conventional therapies.
|
21078151 |
2010 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
After the demonstration that gastrointestinal stromal tumours without c-Kit mutations harbour PDGFR-alpha-activating mutations and that PDGFR-alpha is also a therapeutic target for imatinib mesylate, the interest for this receptor has increased considerably.
|
16168125 |
2005 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
We investigated the correlation between metabolic response by (18)F-FDG PET and objective response, glucose transporter type 4 (GLUT4) expression, and KIT/PDGFRA mutation status in patients with gastrointestinal stromal tumor undergoing neoadjuvant imatinib mesylate therapy.
|
22381410 |
2012 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
This is the first documented case of synchronous gastric GIST and NEC with the examination of protein expression and gene mutations in KIT and PDGFRA, which will help to further understand the etiology and pathogenesis of NEC coexisting with GIST in a gastric location.
|
25674291 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Our results support that KIT and PDGFRA mutations are very rare events in NF-1 GIST.
|
19020900 |
2009 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
In the current study, we set out to explore the frequency and distribution pattern of c-KIT (exons 9, 11 and 13) and PDGFRA (exons 12 and 18) by direct sequencing in a series of 70 Indian GIST cases.
|
25481675 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
In this study, we applied the high resolution array-based comparative genomic hybridization (array-CGH) technology to 66 primary GISTs (40 gastric and 26 nongastric, 48 with KIT and 18 with PDGFRA mutations) for identification of novel high-level alterations and for characterization of genotype-related genomic changes.
|
17171690 |
2007 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Concomitant KIT/BRAF and PDGFRA/BRAF mutations are rare events in gastrointestinal stromal tumors.
|
27097112 |
2016 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
We identified 196 patients with tumours harbouring 200 KIT alterations (exon 11: 173 patients, exon 9: 22 patients, exon 17: 3 patients, exon 13: 2 patients; 4 patients had double KIT mutations), 6 patients with PDGFRA mutations and 26 patients with wild-type (WT) GIST genotype.
|
26687836 |
2016 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Our meta-analysis aimed to investigate the association between imatinib resistance and KIT and PDGFRA mutations in GIST.METHODS.
|
24369323 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
NF-1-associated GISTs are usually wild type for c-KIT and platelet-derived growth factor receptor-alpha (PDGFR-alpha) mutations and harbor a different oncogenic molecular mechanism.
|
18628470 |
2008 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
UNIPROT |
We determined the KIT and PDGFRA mutation status of 1,105 unique GISTs using a combination of denaturing high-performance liquid chromatography and direct sequencing.
|
15928335 |
2005 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
KIT and PDGFRA are the most commonly mutated type III receptor tyrosine kinase genes in GIST.
|
16785193 |
2006 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
This is the first study to report an acquired PDGFRα mutation in port-site recurrence after laparoscopic resection of a GIST.
|
22487635 |
2012 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Recently, KRAS codon 12 and 13 mutations were reported in a small subset of KIT or PDGFRA mutant GISTs.
|
23702733 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Activated mutation of kit constituted 90.7% genetic alteration of Taiwanese with advanced GIST and no PDGFRA mutation was detected.
|
17195905 |
2007 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Gastrointestinal stromal tumors (GIST) are characterized by gain-of-function mutations in KIT/PDGFRA genes leading to a constitutive receptor activation which is well counteracted by imatinib.
|
22282465 |
2012 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
GISTs with PDGFRA mutations have been found to have several characteristic morphological features, sometimes allowing to discriminate them from GISTs with c-kit mutations.
|
26191304 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
The molecular biology and clinical behaviour of gastrointestinal stromal tumours (GISTs) are associated with their anatomical localization (stomach or intestine), and also with the mutation status of the receptor tyrosine kinases KIT and PDGFRA.
|
19768731 |
2010 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Patients, platelet-derived growth factor receptor alpha (PDGFRA) D842V-mutated gastrointestinal stromal tumours (GISTs) are known for their insensitivity to imatinib.
|
28284172 |
2017 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
We conclude that, although most patients with type 1 neurofibromatosis and gastrointestinal stromal tumors do not have KIT or PDGFRA mutations, KIT germline mutations might be implicated in the pathogenesis of gastrointestinal stromal tumors in some patients.
|
15540118 |
2005 |