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

Marie-Pierre Simon; Florence Pedeutour; Nicolas Sirvent; Josiane Grosgeorge; Fabiola Minoletti; Jean-Michel Coindre; Marie-José Terrier-Lacombe; Nils Mandahl; Randall Craver; Nikolaus Blin; Gabriella Sozzi; Claude Turc-Carel; Kevin P. O'Brien; Darek Kedra; Ingegerd Fransson; Cécile Guilbaud; Jan P. Dumanski

doi:10.1038/ng0197-95

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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

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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

Marie-Pierre Simon, Florence Pedeutour, Nicolas Sirvent, Josiane Grosgeorge, Fabiola Minoletti, Jean-Michel Coindre, Marie-José Terrier-Lacombe, Nils Mandahl, Randall Craver, Nikolaus Blin, …

Nature genetics, Vol.15(1), pp.95-98

01/01/1997

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

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Agriculture

Animal Genetics and Genomics

Article

Biomedical and Life Sciences

Biomedicine

Cancer Research

Gene Function

Général

Human Genetics

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Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy 1 , 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 understood 6,7 . 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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Titre: Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma
Créateurs - sans rôle: Marie-Pierre Simon - Laboratoire de Génétique Chromosomiquedes Tumeurs, CNRS URA1462, Facultede Médecine
Florence Pedeutour - Laboratoire de Génétique Chromosomiquedes Tumeurs, CNRS URA1462, Facultede Médecine
Nicolas Sirvent - Laboratoire de Génétique Chromosomiquedes Tumeurs, CNRS URA1462, Facultede Médecine
Josiane Grosgeorge - Laboratoire de Génétique Chromosomiquedes Tumeurs, CNRS URA1462, Facultede Médecine
Fabiola Minoletti - Divisione Oncologia SperimentaleA, Istituto Nazionak Tumori
Jean-Michel Coindre - Laboratoire d'Anatomie Pathologique, Institut Bergonié
Marie-José Terrier-Lacombe - Laboratoire d'Histopathologie A, Institut Gustave-Roussy, rue Camille Desmoulins
Nils Mandahl - Department of Clinical Genetics, Lund University Hospital
Randall Craver - Department of Pathology, New Orleans Children's Hospital
Nikolaus Blin - Universität Tübingen, AbteilungMolekulare Genetik
Gabriella Sozzi - Divisione Oncologia SperimentaleA, Istituto Nazionak Tumori
Claude Turc-Carel - Laboratoire de Génétique Chromosomiquedes Tumeurs, CNRS URA1462, Facultede Médecine, Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital
Kevin P. O'Brien - Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital
Darek Kedra - Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital
Ingegerd Fransson - Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital
Cécile Guilbaud - Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital
Jan P. Dumanski - Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital
Détails de publication: Nature genetics, Vol.15(1), pp.95-98
Éditeur: Nature Publishing Group US
Nombre de pages: 4
Identifiants: 99148901409311
Unité académique: Recherche hors université
Langue: English
Type de ressource: Journal article