Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We examined the breakpoints of the COL1A1 gene using the tumour specimens from four patients with DFSP.
|
16681596 |
2006 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Large areas of chromosomes 17q and 22q, bounded by COL1A1 and PDGF beta, respectively, were amplified in DFSP.
|
14633610 |
2003 |
Giant Cell Fibroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These results strongly suggest that the COL1A1-PDGFB chimeric gene expression associated with DP, induces tumours formation through production of mature PDGFB, in an autocrine or paracrine way.
|
11420709 |
2001 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
|
8988177 |
1997 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
As in DFSP at other sites, COL1A1- PDGFB chimeric fusion transcripts are present in vulvar and groin DFSP.
|
12641779 |
2003 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genomic gains of COL1A1-PDGFB were found predominantly in the DFSP component of GCF/DFSP hybrids but in none of the pure GCF, suggesting that these gains are associated with the histologic evolution of GCF into DFSP.
|
18069662 |
2008 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The novel fusion partners appear well suited to drive USP6 transcription in the bone/mesenchymal context: osteomodulin is expressed strongly in osteoblastic lineages, and the COL1A1 promoter has an oncogenic role in the mesenchymal cancer dermatofibrosarcoma protuberans.
|
15735689 |
2005 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most remarkable cytogenetic feature of DFSP is the chromosomal translocation t(17;22)(q22;q13), causing a fusion of the platelet-derived growth factor beta chain (PDGFB) gene at 22q13, and the collagen type 1 alpha 1 (COL1A1) at 17q22.
|
23207290 |
2013 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans.
|
9771975 |
1998 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.
|
25683993 |
2015 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results suggest a role for COL1A1/PDGFB in sarcomatous change in DFSP over time.
|
23347652 |
2013 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because COL1A1 exon 29 has been involved previously in gene fusion with PDGFB exon 2 in several cases of adult or infantile DP presenting either t(17;22) or ring chromosomes, our results support the concept that DP, GCF, and BT are morphologic variants of a same entity, rather than distinct tumors.
|
12034531 |
2002 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive malignant fibroblastic/myofibroblastic tumor of the skin, characterized by the t(17:22)(q22:q13) translocation resulting in fusion of the COL1A1 and PDGFB genes.
|
26488716 |
2016 |
Giant Cell Fibroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A real-time polymerase chain reaction assay for the COL1A1-PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc.Eight cases were analysed.
|
16731589 |
2007 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dermatofibrosarcoma Protuberans (DFSP) carries a translocation resulting in the COL1A1/PDGFB fusion-gene, responsible for platelet derived growth factor beta receptor (PDGFRB) activation.
|
21128251 |
2011 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
To analyse the presence of collagen type I alpha 1-platelet-derived growth factor beta (COL1A1-PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables.
|
19635106 |
2009 |
Giant Cell Fibroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP.
|
23922791 |
2013 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dermatofibrosarcoma protuberans is characterized by a specific translocation t(17;22)(q22;q13) leading to the formation of COL1A1-PDGFB fusion transcripts.
|
27806849 |
2016 |
Giant Cell Fibroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Detection of the COL1A1/PDGFB fusion transcript may be important for the diagnosis of DFSP.
|
19663837 |
2010 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Detection of COL1A1-PDGFB fusion transcripts and platelet-derived growth factor alpha and beta receptors in giant cell fibroblastoma of the postsacrococcygeal region.
|
16634907 |
2006 |
Giant Cell Fibroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We now report characterization of COL1A1/PDGFB chimeric genes at the RNA and DNA sequence levels in a series of DFSPs and GCFs.
|
9739023 |
1998 |
Giant Cell Fibroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This is the first case of DFSP with multiple copies of COL1A1 and PDGFB not confined to ring chromosomes, showing that DFSP is similar to other borderline malignant mesenchymal tumours, where rings and giant markers are alternative vehicles for amplified material.
|
10072161 |
1998 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most frequent molecular abnormality observed in dermatofibrosarcoma protuberans (DFSP) is the formation of a supernumerary ring chromosome or translocation resulting in fusion of the gene encoding the alpha-chain of type 1 collagen, COL1A1 from 17q22, to the platelet-derived growth factor beta-chain, PDGFB gene from 22q13.
|
16640548 |
2006 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The COL1A1/PDGFB translocation was detected in 93% of DFSP.
|
21484928 |
2011 |
Giant Cell Fibroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The characteristic DFSP-associated translocation, t(17;22)(q22;q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients.
|
22153773 |
2012 |