Dermatofibrosarcoma protuberans occurring in two brothers: Role of environmental or genetic factors? Thomas Jouary, MD, Cécile Beltran, MD, Jean-Michel.

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Dermatofibrosarcoma protuberans occurring in two brothers: Role of environmental or genetic factors? Thomas Jouary, MD, Cécile Beltran, MD, Jean-Michel Coindre, PhD, Philippe Plagnol, PhD, Alain Taieb, PhD, Nathalie Ebran, Florence Pédeutour, MD, Michèle Delaunay, MD Journal of the American Academy of Dermatology Volume 57, Issue 2, Pages S58-S60 (August 2007) DOI: 10.1016/j.jaad.2006.04.059 Copyright © 2007 American Academy of Dermatology, Inc. Terms and Conditions

Fig 1 Partial nucleotide sequence of the PCR product obtained from the cDNA amplification by using the primers COL1A1 exon 46 (forward) and PDGFB exon 3 (reverse). The sequence shows an in-frame fusion of COL1A1 exon 47 to PDGFB exon 2. Journal of the American Academy of Dermatology 2007 57, S58-S60DOI: (10.1016/j.jaad.2006.04.059) Copyright © 2007 American Academy of Dermatology, Inc. Terms and Conditions

Fig 2 Dual color FISH analysis on paraffin-embedded sections of dermatofibrosarcoma protuberans of case 1. A, Dual color probe system for the detection of the COL1A1-PDGFB gene fusion. Black arrows indicate the normal COL1A1 (green signal) and PDGFB (red signal) genes, and white arrows indicate three copies of the COL1A1-PDGFB fusion genes (overlapped red-green signals). B, Dual color “break-apart” probe system detecting the rearrangement of the PDGFB gene. Black arrows indicate the non-rearranged PDGFB gene (juxtaposed red and green signals), and white arrows indicate three copies of the rearranged PDGFB gene (red signals corresponding to the 3′ part of the gene). Journal of the American Academy of Dermatology 2007 57, S58-S60DOI: (10.1016/j.jaad.2006.04.059) Copyright © 2007 American Academy of Dermatology, Inc. Terms and Conditions