Dermatofibrosarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively.
|
30187166 |
2019 |
Dermatofibrosarcoma
|
0.100 |
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
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Application of COL1A1-PDGFB fusion gene detection by fluorescence in situ hybridization in biopsy tissue of dermatofibrosarcoma protuberans.
|
28150334 |
2017 |
Dermatofibrosarcoma
|
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 |
Dermatofibrosarcoma
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair.
|
26261653 |
2015 |
Dermatofibrosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans.
|
22842571 |
2012 |
Dermatofibrosarcoma
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans.
|
18069662 |
2008 |
Dermatofibrosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays.
|
17950782 |
2008 |
Dermatofibrosarcoma
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays.
|
17950782 |
2008 |
Dermatofibrosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1-PDGFB fusion.
|
18253748 |
2008 |
Dermatofibrosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans.
|
17478383 |
2007 |
Dermatofibrosarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans.
|
17431412 |
2007 |
Dermatofibrosarcoma
|
0.100 |
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
|
0.100 |
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
|
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 |
Dermatofibrosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans (DFSP).
|
14643521 |
2003 |
Dermatofibrosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR.
|
12641779 |
2003 |
Dermatofibrosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.
|
12786837 |
2003 |
Dermatofibrosarcoma
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
COLIA1-PDGFB gene fusion in dermatofibrosarcoma protuberans. molecular analysis of a case with an unusual large marker containing sequences from chromosomes 7, 8, 17, 21, and 22.
|
12127408 |
2002 |
Dermatofibrosarcoma
|
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 |
Dermatofibrosarcoma
|
0.100 |
Biomarker
|
disease |
LHGDN |
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
|
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 |
Dermatofibrosarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans.
|
11329146 |
2001 |