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Dermatofibrosarcoma protuberans with COL1A1 (exon 18) – PDGFB (exon 2) fusion transcript
Author(s) -
Saeki H.,
Ohmatsu H.,
Hoashi T.,
Asano N.,
Idezuki T.,
Kawabata Y.,
Asahina A.,
Kikuchi K.,
Tamaki K.
Publication year - 2003
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2003.05367.x
Subject(s) - dermatofibrosarcoma protuberans , pdgfb , exon , fusion transcript , fusion gene , genetics , biology , medicine , cancer research , gene , receptor , platelet derived growth factor receptor , growth factor
Summary Background Fusion of the collagen type I α 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.