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 |
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 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 |
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 |
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 |
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 |
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 |
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 |
Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.
|
25683993 |
2015 |
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 |
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 |
These results suggest a role for COL1A1/PDGFB in sarcomatous change in DFSP over time.
|
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 |
The newly developed method is valuable to rapidly identify COL1A1-PDGFB fusion transcripts in DFSP.
|
22842571 |
2012 |
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 |
The COL1A1/PDGFB translocation was detected in 93% of DFSP.
|
21484928 |
2011 |
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 |
The COL1A1-PDGFB fusion transcript was found in 100% DFSP-FS and 72% DFSP.
|
21570152 |
2011 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Detection of the COL1A1/PDGFB fusion transcript may be important for the diagnosis of DFSP.
|
19663837 |
2010 |
Dermatofibrosarcoma Protuberans
|
0.400 |
Biomarker
|
disease |
BEFREE |
To analyse the presence of collagen type I alpha 1-platelet-derived growth factor beta (COL1A1-PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables.
|
19635106 |
2009 |