| Literature DB >> 8988177 |
M P Simon1, F Pedeutour, N Sirvent, J Grosgeorge, F Minoletti, J M Coindre, M J Terrier-Lacombe, N Mandahl, R D Craver, N Blin, G Sozzi, C Turc-Carel, K P O'Brien, D Kedra, I Fransson, C Guilbaud, J P Dumanski.
Abstract
Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from the t(17;22). In this report, the breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF), 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 alpha 1 (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. COL1A1 is a major constituent of the connective tissue matrix. 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.Entities:
Mesh：
Substances：
Year: 1997 PMID： 8988177 DOI： 10.1038/ng0197-95
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330