|
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 |
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 |
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 |
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 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results suggest a role for COL1A1/PDGFB in sarcomatous change in DFSP over time.
|
23347652 |
2013 |
|
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 |
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 |
We studied the breakpoints of the COL1A1 gene using the tumor specimens from three patients with DFSP.
|
14643521 |
2003 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This is one of the few studies to demonstrate the value of FISH analysis of the COL1A1-PDGFB gene, which could validate complicated and suspected diagnoses in the routine biopsy of DFSP.
|
28150334 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Objectives We examined the breakpoint of the COL1A1 gene using the tumour specimen from the patient with DFSP.
|
12786837 |
2003 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The COL1A1/PDGFB translocation was detected in 93% of DFSP.
|
21484928 |
2011 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment.
|
30874910 |
2019 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We examined the breakpoints of the COL1A1 gene using the tumour specimens from four patients with DFSP.
|
16681596 |
2006 |
|
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 |
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 |
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 |
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 |