Interphase FISH result of COL1A1/PDGFB Fusion probe hybridized to dermatofibrosarcoma protuberans tumor tissue, showing co-localization and amplification of the fusion gene.
The diagnosis of primary soft tissue and bone tumors is often challenging as they are relatively rare. The misdiagnosis between dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) or giant cell fibroblastoma (GCF) might result in incorrect primary management. DFSP and GCF have in most cases diagnosed today a translocation involving the COL1A1 (collagen, type I, alpha 1) gene at 17q21 and the PDGFB (platelet-derived growth factor beta polypeptide) gene at 22q13. Also, a supernumerary ring chromosome derived from the translocation t(17;22) can be present. The COL1A1/PDGFB t(17;22) Dual-Color Single-Fusion probe is optimized to detect the t(17;22)(q21;q13) involving the COL1A1 (17q21) and PDGFB (22q13) gene regions in dual-color, single-fusion assay on paraffin embedded tissue sections.
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