Search results for "PDGFB"

showing 4 items of 4 documents

Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB

2008

Fusion geneInfectious DiseasesPDGFBbusiness.industryCancer researchDermatofibrosarcoma protuberansmedicineDermatologymedicine.diseasebusinessJournal of the European Academy of Dermatology and Venereology
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Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ…

2011

Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses. FISH and RT-PCR were carried out on paraffin embedded tissue samples. Regarding the RT-PCR approach, all COL1A1 exons and exon 2 of PDGFB were evaluated. Sensitivity, specificity, positi…

AdultMaleCancer ResearchCD34Chromosomal translocationBiologyCollagen Type Ilaw.inventionlawGeneticsmedicineDermatofibrosarcoma protuberansHumansChildIn Situ Hybridization FluorescencePolymerase chain reactionFibrosarcomatous Dermatofibrosarcoma ProtuberansPDGFBmedicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionDermatofibrosarcomaProto-Oncogene Proteins c-sismedicine.diseaseMolecular biologyCollagen Type I alpha 1 ChainImmunohistochemistryFluorescence in situ hybridizationGenes Chromosomes and Cancer
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Biphasic dermatofibrosarcoma protuberans with a labyrinthine plexiform high‐grade fibrosarcomatous transformation

2013

Several variants of dermatofibrosarcoma protuberans, a low-grade superficial sarcoma, are well recognized. The most prognostically important is the fibrosarcomatous variant. We report a case of biphasic dermatofibrosarcoma protuberans in which the high-grade component exhibited a previously undescribed plexiform pattern. A clinicopathological study complemented with immunohistochemical, ultrastructural, reverse transcription polymerase chain reaction and fluorescence in situ hybridization analyses of this unique case. Histopathologically, a conventional low-grade dermatofibrosarcoma protuberans was admixed with intratumoral high-grade areas showing a striking labyrinthine plexiform pattern …

MalePathologymedicine.medical_specialtySkin NeoplasmsHistologyOncogene Proteins FusionFibrosarcomaCD34DermatologyBiologyPathology and Forensic MedicinemedicineDermatofibrosarcoma protuberansHumansIn Situ Hybridization FluorescencePDGFBmedicine.diagnostic_testDermatofibrosarcomaMiddle AgedPrognosismedicine.diseaseImmunohistochemistryCell Transformation NeoplasticCOL1A1/PDGFB Fusion GeneImmunohistochemistrySarcomaImmunostainingFluorescence in situ hybridizationJournal of Cutaneous Pathology
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Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications.

2009

Aims:  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. Methods and results:  Multiplex reverse transcriptase-polymerase chain reaction was carried out using frozen tissue. Our series contained 14 men and six women. Histologically, most cases were of conventional type (n = 9), followed by fibrosarcoma (n = 4), Bednar tumour (n = 2), sclerosing (n = 2), myoid (n = 1) and atrophic (n = 1) DFSP, and giant cell fibroblastoma (n = 1). Immunohistochemistry revealed CD34 express…

AdultMalePathologymedicine.medical_specialtyHistologySkin NeoplasmsAdolescentCD34Antineoplastic AgentsBiologyCollagen Type IPiperazinesPathology and Forensic MedicineYoung AdultDermatofibrosarcoma protuberansmedicineHumansAgedDNA PrimersAged 80 and overPDGFBBase SequenceDermatofibrosarcomaGeneral MedicineGiant-cell fibroblastomaMiddle Agedmedicine.diseaseMohs SurgeryCollagen Type I alpha 1 ChainImatinib mesylatePyrimidinesFusion transcriptCOL1A1/PDGFB Fusion GeneBenzamidesImatinib MesylateFemaleGene FusionDermatofibrosarcomaGenes sisHistopathology
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