Abstract
Dermatofibrosarcoma protuberans (DFSP) is an uncommon, slow growing, sarcoma of dermal and subcutaneous tissue with an infiltrative growth pattern. Although DFSP has a high rate of local recurrence, it rarely metastasizes. DFSP is characterized by a chromosomal translocation involving the collagen type 1 a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22. Various exons of the COL1A1 gene have been reported to be involved in the fusion with exon 2 of the PDGFB gene. In this study, we examined the COL1A1-PDGFB fusion transcripts using frozen specimens from three patients with DFSP. The molecular biology study with reverse transcriptase polymerase chain reaction (RT- PCR) and sequencing showed that the ends of exons 25, 31, and 45 in the COL1A1 gene were fused with PDGFB. The exon 2 of the PDGFB gene fused with exon 31 of the COL1A1 gene was a novel fusion gene.
| Original language | English |
|---|---|
| Pages (from-to) | 217-219 |
| Number of pages | 3 |
| Journal | European Journal of Dermatology |
| Volume | 17 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - May 2007 |
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Keywords
- COL1A1
- Dermatofibrosarcoma protuberans
- Fusion gene
- PDGFB
ASJC Scopus subject areas
- Dermatology
Cite this
A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans. / Nakanishi, Gen; Lin, Song Nan; Asagoe, Kenji; Suzuki, Norihiro; Matsuo, Akiko; Tanaka, Ryo; Makino, Eiichi; Fujimoto, Wataru; Iwatsuki, Keiji.
In: European Journal of Dermatology, Vol. 17, No. 3, 05.2007, p. 217-219.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans
AU - Nakanishi, Gen
AU - Lin, Song Nan
AU - Asagoe, Kenji
AU - Suzuki, Norihiro
AU - Matsuo, Akiko
AU - Tanaka, Ryo
AU - Makino, Eiichi
AU - Fujimoto, Wataru
AU - Iwatsuki, Keiji
PY - 2007/5
Y1 - 2007/5
N2 - Dermatofibrosarcoma protuberans (DFSP) is an uncommon, slow growing, sarcoma of dermal and subcutaneous tissue with an infiltrative growth pattern. Although DFSP has a high rate of local recurrence, it rarely metastasizes. DFSP is characterized by a chromosomal translocation involving the collagen type 1 a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22. Various exons of the COL1A1 gene have been reported to be involved in the fusion with exon 2 of the PDGFB gene. In this study, we examined the COL1A1-PDGFB fusion transcripts using frozen specimens from three patients with DFSP. The molecular biology study with reverse transcriptase polymerase chain reaction (RT- PCR) and sequencing showed that the ends of exons 25, 31, and 45 in the COL1A1 gene were fused with PDGFB. The exon 2 of the PDGFB gene fused with exon 31 of the COL1A1 gene was a novel fusion gene.
AB - Dermatofibrosarcoma protuberans (DFSP) is an uncommon, slow growing, sarcoma of dermal and subcutaneous tissue with an infiltrative growth pattern. Although DFSP has a high rate of local recurrence, it rarely metastasizes. DFSP is characterized by a chromosomal translocation involving the collagen type 1 a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22. Various exons of the COL1A1 gene have been reported to be involved in the fusion with exon 2 of the PDGFB gene. In this study, we examined the COL1A1-PDGFB fusion transcripts using frozen specimens from three patients with DFSP. The molecular biology study with reverse transcriptase polymerase chain reaction (RT- PCR) and sequencing showed that the ends of exons 25, 31, and 45 in the COL1A1 gene were fused with PDGFB. The exon 2 of the PDGFB gene fused with exon 31 of the COL1A1 gene was a novel fusion gene.
KW - COL1A1
KW - Dermatofibrosarcoma protuberans
KW - Fusion gene
KW - PDGFB
UR - http://www.scopus.com/inward/record.url?scp=34249809687&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34249809687&partnerID=8YFLogxK
U2 - 10.1684/ejd.2007.0151
DO - 10.1684/ejd.2007.0151
M3 - Article
C2 - 17478383
AN - SCOPUS:34249809687
VL - 17
SP - 217
EP - 219
JO - European Journal of Dermatology
JF - European Journal of Dermatology
SN - 1167-1122
IS - 3
ER -