|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Gastrointestinal stromal tumors (GISTs), generally KIT-positive and KIT/PDGFRA mutation-driven mesenchymal neoplasms, most commonly originate from the stomach or small intestine, but in rare examples they involve the omentum.
|
19440146 |
2009 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Only a single (3%) GIST was amplified for MDM2. p53 protein expression, mitotic index, and KIT/PDGFRA mutations did not correlate with recurrence or metastasis (P=0.20, 0.50, and 0.08, respectively) but tumor size did (P=0.04).
|
23060298 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetically, the tumor showed a silent mutation in exon 18 of the PDGFRA gene at codon 824 GTC > GTT (V824V) [rs2228230].
|
22009637 |
2012 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
(1) To test whether in genomewide expression profiling differentially expressed genes were also distinct on the protein level including KIT and PDGFRA (2) to correlate the expression with clinicopathological parameters (3) to identify activating mutations that might be eligible for tyrosine kinase inhibitor therapy by mutational analysis of tumors with high expression.
|
22160160 |
2012 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Identification of PDGFRA rearrangement, as in the present case, is particularly critical given the sensitivity and excellent response to imatinib, which has completely changed the natural history of this neoplasm.
|
31744552 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genomic DNA was isolated from microdissected formalin-fixed paraffin-embedded tumour tissue and examined for KIT and PDGFRA mutations by PCR and direct sequencing of KIT and PDGFRA.
|
17513510 |
2008 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Importantly, Pax3 is regionally expressed in human glioma as well, with high PAX3 mRNA characterizing 40% of human BSG, revealing a subset of tumors that significantly associates with PDGFRA alterations, amplifications of cell cycle regulatory genes, and is exclusive of ACVR1 mutations.
|
25330836 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In subsets of gastrointestinal stromal tumors (GISTs), mutations of the KIT and PDGFRA receptor tyrosine kinases correlate with tumor prognosis and response to tyrosine kinase inhibitors (TKIs).
|
25735500 |
2015 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genomic DNA was extracted from the tumor and normal mucosa and mutations for 4 exons of KIT gene and 3 exons of PDGFRA gene were determined.
|
17255767 |
2007 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GIST-specific KIT or PDGFRA mutations have been linked to tumor location, tumor cell morphology and clinical behavior.
|
18246046 |
2008 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation analysis of c-Kit hotspot exons (9, 11, 13 and 17) and PDGFRA hotspot exons (12 and 18) was performed in aspirates of 33 GISTs and 18 non-GIST mesenchymal tumors.
|
17145623 |
2007 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Tumor and normal DNA from a GIST case carrying the IM-resistant PDGFRA D842V mutation was analyzed by whole exome sequencing (WES) to identify additional potential targets for therapy.
|
28768491 |
2017 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We have investigated the link between single nucleotide polymorphisms (SNPs) within the PDGFRalpha gene promoter and the occurrence of brain tumours (medulloblastomas, supratentorial primitive neuroectodermal tumours (PNETs), ependymal tumours, astrocytomas, oligodendrogliomas, and mixed gliomas).
|
15635072 |
2005 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastrointestinal stromal tumors revealed by next generation sequencing.
|
25427437 |
2015 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
None of the 16 analyzable tumors showed mutations in PDGFRA.
|
26990750 |
2017 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors.
|
17566086 |
2007 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia.
|
29025601 |
2017 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Detection of mutant free circulating tumor DNA in the plasma of patients with gastrointestinal stromal tumor harboring activating mutations of CKIT or PDGFRA.
|
23833305 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our objective was to investigate the possibility that patients with CT and/or their tumors may harbor mutations of the SDHB, SDHC, SDHD, KIT, and PDGFRA genes and identify any other genetic alterations in CT tumors.
|
17535989 |
2007 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It is not known if Merkel cell carcinomas (MCCs) show mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene similar to a subset of gastrointestinal stromal cell tumors.
|
18190445 |
2008 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thus, lack of mutations in KIT or PDGFRA in solid-pseudopapillary neoplasms suggests that imatinib mesylate is less likely to be effective in the treatment for patients with metastatic disease or unresectable tumor, and patients who are just not good surgical candidates.
|
16778826 |
2006 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Four patients with 1 clinically apparent tumor (mean size 5.6 cm) and 1 to 3 further small incidental tumors (mean size 0.7 cm) were analysed by mutation analysis and comparative genomic hybridization for mutations of KIT and PDGFRA and chromosomal imbalances in their tumors.
|
17527083 |
2007 |
|
Neoplasms
|
0.100 |
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 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thus, the "in vivo" evidence that these two mutations of PDGFRA are sensitive to Imatinib was confirmed by a multidimensional approach comprising "in silico" experiments that, in association to molecular and biochemical analyses, constitutes a powerful tool to predict Imatinib sensitivity, clinically beneficial in the treatment of these tumors with molecularly targeted therapies.
|
20473908 |
2011 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Further cytogenetic analysis revealed that this tumor had a point mutation (D842V substitution) in exon 18 of the platelet-derived growth factor receptor alpha gene.
|
16332719 |
2005 |