Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair.
Dermatofibrosarcoma protuberans (DFSPs) is an uncommon dermal tumor of intermediate to low-grade malignancy. A few patients have clinically persistent plaques that might be atrophic, and they are difficult to be diagnosed clinically. With the development of cytogenetic and molecular biology techniques, the detection of fusion transcripts of the collagen type 1a1 (COL1A1) and platelet-derived growth factor-BB (PDGFB) genes has been recognized as a reliable and valuable molecular tool for the diagnosis of DFSPs. We reported a 24-year-old woman who had a 2 years history of atrophic DFSPs, and detected the gene fusion between COL1A1 to PDGFB by one-step method of RT-PCR using only a single primer pair. The gene fusion detected by this rapid and efficient one-step method in our patient appears to be the first report of atrophic DFSPs, and we detected a novel COL1A1 breakpoint between exon 2 and exon 3.
Department of Dermatology, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University Beijing 100010, China ; Department of Dermatology, Beijing Electric Power Hospital Beijing 100073, China.
Wen-Jun
WJ
Xu
Department of Dermatology, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University Beijing 100010, China.
Ju-Sheng
JS
Wang
D018223:Dermatofibrosarcoma / Q000235:genetics*; D005260:Female; D006801:Humans; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012878:Skin Neoplasms / Q000235:genetics*; D055815:Young Adult
C120892:COLIA1-PDGFB fusion protein, human; D015514:Oncogene Proteins, Fusion
CD34; COL1A1-PDGFB; Dermatofibrosarcoma protuberans; RT-PCR; atrophic