|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this study, we examined the COL1A1-PDGFB fusion transcripts using frozen specimens from three patients with DFSP.
|
17478383 |
2007 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Reverse transcription polymerase chain reaction and sequence analysis showed the presence of an identical COL1A1-PDGFB fusion transcript in ordinary DFSP (plaque-like area), FS, and myxoid areas of DFSP.
|
16126884 |
2005 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
This is the first report of a DFSP case where the lack of chromosomes 17 and 22 rearrangement and the absence of COL1A1-PDGFB fusion gene have been demonstrated.
|
18253748 |
2008 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
FusionGene
|
disease |
ORPHANET |
|
|
|
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
The COL1A1-PDGFB fusion transcript was found in 100% DFSP-FS and 72% DFSP.
|
21570152 |
2011 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To confirm the diagnosis, molecular studies were performed on fixed tumor and revealed the presence of the fusion product of the COL1A1-PDGFB genes characteristic of DFSP.
|
12660034 |
2003 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.
|
25683993 |
2015 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, the COL1A1-PDGFB chimeric gene resulting from a reciprocal translocation, t(17;22), and/or a supernumerary ring chromosome, r(17;22), has been identified, not only in conventional dermatofibrosarcoma protuberans (DFSP) but also in areas of DFSP with progression to fibrosarcoma (so-called fibrosarcomatous transformation) (FS-DFSP).
|
11329146 |
2001 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dermatofibrosarcoma protuberans is underlined by recurrent collagen type I alpha 1 chain-platelet-derived growth factor B chain (COL1A1-PDGFB) fusions but ~ 4% of typical dermatofibrosarcoma protuberans remain negative for this translocation in routine molecular screening.
|
29955147 |
2018 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Essentially no difference in the copy number of COL1A1-PDGFB fusion gene was observed between dermatofibrosarcoma protuberans areas of classic dermatofibrosarcoma protuberans and dermatofibrosarcoma protuberans areas of fibrosarcomatous dermatofibrosarcoma protuberans (median PDGFB copy gain of 1.8 versus 1.7, respectively, P=0.36).
|
16980946 |
2006 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
DFSP is thought to result from a translocation between platelet-derived growth factor beta (PDGFB, 22q13.1) and type 1 collagen (COL1A1, 17q21≈22) leading to a fusion protein (PDGFB) which stimulates the PDGF receptor.
|
22780227 |
2013 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
This finding is in line with previous studies, and suggests further that not only the COL1A1/PDGFB fusion gene formation but also the role of DNA copy number gains in the 17q and 22q regions is crucial per se in the pathogenesis of DFSP.
|
11435686 |
2001 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fluorescence in situ hybridization analysis did not reveal the DFSP fusion gene COL1A1-PDGFB.
|
19016705 |
2009 |