Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors  Avery A. Sandberg, Julia A. Bridge  Cancer Genetics and Cytogenetics  Volume 140, Issue 1, Pages 1-12 (January 2003) DOI: 10.1016/S0165-4608(02)00848-8

Fig. 1 Histologic appearance of dermatofibrosarcoma protuberans (DFSP) and its fibrosarcomatous variant. (A) Dermal location of DFSP with uninvolved zone beneath atrophic dermis. (B) Characteristic microscopic appearance of DFSP with interwoven fascicles of cells forming a storiform pattern. (C) Fascicular herringbone pattern of growth with frequent mitoses representative of the fibrosarcomatous variant of DFSP. (D) Fibrosarcomatous variant of DFSP infiltrating underlying muscle (Bowne et al., 2000) [86]. Cancer Genetics and Cytogenetics 2003 140, 1-12DOI: (10.1016/S0165-4608(02)00848-8)

Fig. 2 Karyotype of a giant cell fibroblastoma (GCF) showing a balanced translocation, 46,XY,t(17;22)(q21.33;q13.1), as the sole cytogenetic anomaly (arrows) (Craver et al., 1995) [34]. This cytogenetic change is identical to that seen in DFSP. Cancer Genetics and Cytogenetics 2003 140, 1-12DOI: (10.1016/S0165-4608(02)00848-8)

Fig. 3 Karyotype of a DFSP with 50 chromosomes, including a ring chromosome (r), the latter being the most common cytogenetic change in DFSP and GCF. Trisomies 4, 5, and 8 are present. The karyotype is one of four DFSP with ring chromosomes demonstrated with FISH to contain chromosome 17 sequences [55]. In subsequent years this research group confirmed and extended the nature of these ring chromosomes (Pédeutour et al., 1994) [56–58]. Cancer Genetics and Cytogenetics 2003 140, 1-12DOI: (10.1016/S0165-4608(02)00848-8)

Fig. 4 Breakpoints in COL1A1 and PDGFB in DFSP. Shown is a partial genomic structure of the COL1A1 gene from exon 1 to exon 46, with the appropriate location of the breakpoints in eight DFSP indicated by arrows pointing to the various exons affected. The breakpoint in PDGFB gene usually involves exon 2 solely. Open boxes represent untranslated regions (Wang et al., 1999) [22]. Cancer Genetics and Cytogenetics 2003 140, 1-12DOI: (10.1016/S0165-4608(02)00848-8)

Fig. 5 Schematic presentation of the molecular events associated with the COL1A1-PDGFB gene fusion in DFSP or GCF according to Simon et al [69]. This scheme is to serve as a guide in the discussion related to the molecular events presented by these authors and outlined in some detail in the text. In (A) is shown the chimeric COL1A1-PDGFB cDNA map. In (B) is shown the deduced chimeric protein map. In (C) is shown the deduced chimeric protein map compared with the wild-type proteins. COL1A1 sequences are shown in white and those of PDGFB as shaded areas. The black areas and white areas on the left of the chimeric protein in (C) indicate the COL1A1-PDGFB signal peptide sequences, respectively. Arrows indicate mutation points on the COL1A1-PDGFB sequence; arrowheads point to proteolytic cleavage sites. C5 and P5 refer to respective mutated pcDNA 3.1-T94796 construction. Numbers to the left of arrowheads indicate the amino acid (aa) position on the chimeric COL1A1-PDGFB protein sequence, which begins at the first methionine of the consensus COL1A1 sequence (Simon et al., 2001) [69]. Cancer Genetics and Cytogenetics 2003 140, 1-12DOI: (10.1016/S0165-4608(02)00848-8)