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Case Reports
. 2003 May;148(5):1028-31.
doi: 10.1046/j.1365-2133.2003.05367.x.

Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript

H Saeki  1 , H Ohmatsu, T Hoashi, N Asano, T Idezuki, Y Kawabata, A Asahina, K Kikuchi, K Tamaki
Affiliations
Case Reports

Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript

H Saeki et al. Br J Dermatol. 2003 May.

Abstract

Background: Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been described in dermatofibrosarcoma protuberans (DFSP). Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. Objectives We examined the breakpoint of the COL1A1 gene using the tumour specimen from the patient with DFSP.

Methods: Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumour cells. Nucleotide sequence analysis was carried out using the PCR product to identify the breakpoint.

Results: The COL1A1-PDGFB fusion transcript was detected from the tumour specimen. Sequence analysis revealed that exon 18 of the COL1A1 gene was fused with exon 2 of the PDGFB gene.

Conclusions: This study identified a novel COL1A1 breakpoint, namely, exon 18 of the COL1A1 gene.

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