|
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 |
Biomarker
|
disease |
BEFREE |
Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions.
|
29955147 |
2018 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Little is known regarding oncoproteins other than platelet-derived growth factor subunit B in dermatofibrosarcoma protuberans (DFSP).
|
29792909 |
2018 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
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 |
GeneticVariation
|
disease |
BEFREE |
The high frequency of PDGFB rearrangement in vulvar DFSP provides a useful exploit in diagnostically challenging cases and genetic evidence of probable clinical response to targeted therapeutics in cases of locally advanced or metastatic tumors.
|
29140881 |
2018 |
|
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 |
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 |
Dermatofibrosarcoma protuberans (DFSP) is an aggressive PDGFB-dependent cutaneous sarcoma characterized by infiltrative growth and frequent local recurrences.
|
25852058 |
2015 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
With the development of cytogenetic and molecular biology techniques, the detection of fusion transcripts of the collagen type 1a1 (COL1A1) and platelet-derived growth factor-BB (PDGFB) genes has been recognized as a reliable and valuable molecular tool for the diagnosis of DFSPs.
|
26261653 |
2015 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although COL1A1/PDGFB fusion gene was identified in the tumor cells recently, not all of the cases were positive for the fusion gene, and further researches are still needed to clarify the pathogenesis of DFSP.
|
24525843 |
2014 |
|
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 |
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications.
|
23347652 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.
|
23199263 |
2012 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans.
|
22842571 |
2012 |
|
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 COL1A1/PDGFB translocation was detected in 93% of DFSP.
|
21484928 |
2011 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
In conclusion, the COL1A1/PDGFB fusion gene was present in most of the dermatofibrosarcoma protuberans tissue samples.
|
21111450 |
2011 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic aberrations involving the platelet-derived growth factor-beta (PDGFB) gene and the collagen type 1 alpha1 (COL1A1) gene have been implicated in the pathogenesis of dermatofibrosarcoma protuberans (DFSP), a slow-growing and locally infiltrative dermal tumour.
|
19663837 |
2010 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications.
|
19635106 |
2009 |
|
Dermatofibrosarcoma Protuberans
|
0.400 |
GeneticVariation
|
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 |
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 |