|
Dermatofibrosarcoma Protuberans
|
0.400 |
FusionGene
|
disease |
ORPHANET |
|
|
|
|
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 |
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 |
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 |
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 |
COL1A1-PDGFB gene fusion is frequent in DFSP, rendering tumor cell proliferation and survival dependent on PDGFRβ (platelet-derived growth factor receptor β) signaling.
|
24173542 |
2014 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans.
|
9790508 |
1998 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma.
|
10963386 |
2000 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
As in DFSP at other sites, COL1A1- PDGFB chimeric fusion transcripts are present in vulvar and groin DFSP.
|
12641779 |
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 |
Cytogenetically, most dermatofibrosarcoma protuberans are characterized by chromosomal rearrangements resulting in the collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor β (PDGFB) fusion gene.
|
25081750 |
2015 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
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 |
Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans.
|
17431412 |
2007 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Detection of the COL1A1/PDGFB fusion transcript may be important for the diagnosis of DFSP.
|
19663837 |
2010 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Differentiating dermatofibrosarcoma protuberans (DFSP) from other dermatofibromas using CD34 immunohistochemistry alone is difficult; therefore, fluorescence in situ hybridisation (FISH) analysis is often employed to identify typical COL1A1-PDGFB fusion or gene rearrangement.
|
22523339 |
2012 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
FISH analysis revealed COL1A1-PDGFB gene rearrangement in all DFSP cases (n=7), whereas RT-PCR could detect the COL1A1-PDGFB fusion transcript only in 1 DFSP.Two cases were negative.
|
20061935 |
2010 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fluorescence in situ hybridization analysis did not reveal the DFSP fusion gene COL1A1-PDGFB.
|
19016705 |
2009 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fusion of the collagen type I a 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans.
|
16040406 |
2005 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays.
|
21111450 |
2011 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
In attendees, t(17;22) COL1A1-PDGFB FISH testing for classic cases of DFSP is appropriately not being used by respondents.
|
30155908 |
2018 |
|
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 |