Fig. 2
From: Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions
COL6A3-PDGFD dermatofibrosarcoma protuberans. a Biopsy specimen highlighting deep-seated dense nodular proliferation (case number 6, HES staining, × 20 magnification). b Storiform proliferation with honeycomb infiltrative pattern typical of dermatofibrosarcoma protuberans (HES, × 200). c Fibrous stromal changes focally interposed between tumor cells (HES, × 250) d Tumor cells display ovoid monomorphic nuclei (HES, × 400). e Array-comparative genomic hybridization profile showing deletions and breakpoints involving COL6A3 and PDGFD. Additional copy number alteration includes gain of chromosome 12. f–g Fluorescence in situ hybridization (FISH) using COL6A3 break-apart probe f and PDGFD break-apart probe g showing an unbalanced rearrangement with loss of the 3′COL6A3 and the 5′PDGFD, respectively. h Structure of COL6A3-PDGFD fusion transcript. From top to bottom: scheme representing locus and chromosomal position of COL6A3 and PDGFD; schematic of breakpoints positions involving COL6A3 exon 42 and PDGFD exon 6; nucleotide sequence of adjoined sequences
