Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.
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.
Saeki
H
H
Department of Dermatology, Faculty of Medicine, University of Tokyo, Hongo 7-3-1, Bunkyo-ku, Tokyo 113-8655, Japan.
Ohmatsu
H
H
Hoashi
T
T
Asano
N
N
Idezuki
T
T
Kawabata
Y
Y
Asahina
A
A
Kikuchi
K
K
Tamaki
K
K
D000328:Adult; D001483:Base Sequence; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D018223:Dermatofibrosarcoma / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000032:analysis*; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics*
C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D015514:Oncogene Proteins, Fusion; D020574:Proto-Oncogene Proteins c-sis