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Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma

Nature Genetics volume 15, pages 9598 (1997) | Download Citation

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Abstract

Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy1, presents specific features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from the t(17;22)2,3. In this report, the breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF)4,5, were characterised on the genomic and RNA level. These rearrangements fuse the platelet-derived growth factor B-chain (PDGFB, c-sis proto-oncogene) and the collagen type I α1 (COL1A1) genes. PDGFB has transforming activity and is a potent mitogen for a number of cell types, but its role in oncogenic processes is not fully understood6,7. COL1A1 is a major constituent of the connective tissue matrix8. Neither PDGFB nor COL1A1 have so far been implicated in any tumour translocations. These gene fusions delete exon 1 of PDGFB, and release this growth factor from its normal regulation.

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Author information

Author notes

    • Marie-Pierre Simon
    • , Florence Pedeutour
    •  & Kevin P. O'Brien

    M.-R S., F. P. & K. O'B. contributed equally to this work.

Affiliations

  1. Laboratoire de Génétique Chromosomiquedes Tumeurs, CNRS URA1462, Facultede Médecine, Avenue de Valombrose, 06107'Nice cedex 02, France.

    • Marie-Pierre Simon
    • , Florence Pedeutour
    • , Nicolas Sirvent
    • , Josiane Grosgeorge
    •  & Claude Turc-Carel
  2. Divisione Oncologia SperimentaleA, Istituto Nazionak Tumori, Via G. Venezian 1, Milan, Italy.

    • Fabiola Minoletti
    •  & Gabriella Sozzi
  3. Laboratoire d'Anatomie Pathologique, Institut Bergonié, 180 rue de Saint-Genés, 33076 Bordeaux, France.

    • Jean-Michel Coindre
  4. Laboratoire d'Histopathologie A, Institut Gustave-Roussy, rue Camille Desmoulins, 94905 Villejuif cedex, France.

    • Marie-José Terrier-Lacombe
  5. Department of Clinical Genetics, Lund University Hospital, S-221 85 Lund, Sweden.

    • Nils Mandahl
  6. Department of Pathology, New Orleans Children's Hospital, 200 Henry Clay Avenue, New Orleans, Louisiana 70118, USA.

    • Randall Craver
  7. Universität Tübingen, AbteilungMolekulare Genetik, Wilhelmstr. 27, D-72074 Tübingen, Germany.

    • Nikolaus Blin
  8. Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-171 76 Stockholm, Sweden.

    • Claude Turc-Carel
    • , Kevin P. O'Brien
    • , Darek Kedra
    • , Ingegerd Fransson
    • , Cécile Guilbaud
    •  & Jan P. Dumanski

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DOI

https://doi.org/10.1038/ng0197-95

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