New Assay to Detect Genetic Abnormalities in Sarcomas Outperforms Conventional Techniques (IMAGE)

Elsevier

New Assay to Detect Genetic Abnormalities in Sarcomas Outperforms Conventional Techniques

Caption

Dermatofibrosarcoma protuberans, a rare tumor harboring a COL1A1-PDGFB translocation. A: Hematoxylin and eosin staining shows classic morphology with storiform-arranged spindle tumor cells. B: Although FISH using commercial probes revealed no rearrangement, specifically designed FISH probes reveal colocalization of red (PDGFB) and green (COL1A1) signals, indicating a COL1A1-PDGFB fusion. C: Archer analysis software version 5.0 reveals both fusion partners (COL1A1, exon 10; and PDGFB, exon 2). D: Sanger sequencing of PCR product confirms a COL1A1-PDGFB fusion. Original magnification: x20 (A); x140 (B).

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The Journal of Molecular Diagnostics

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