Department of Dermatology, The First Affiliated Hospital, College of Medicine, Zhejiang University, No 79, Qingchun Road, Hangzhou 310003, People's Republic of China.
Diagn Pathol. 2012 Nov 30;7:166. doi: 10.1186/1746-1596-7-166.
Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm. It usually presents as an indurated plaque that protrudes above the surface of the skin. Some patients have clinically persistent plaques that might be atrophic. The atrophic variant of dermatofibrosarcoma protuberans may be confused with some common skin diseases with atrophic appearance. We reported a 40-year-old woman who had a 10-year history of an atrophic dermatofibrosarcoma protuberans. Molecular analysis showed a fusion between COL1A1 exon 31 to exon 2 of PDGFB. The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining. To our knowledge, this is the second case of atrophic dermatofibrosarcoma protuberans confirmed by detection of COL1A1-PDGFB fusion gene. This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.
The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1249657688795311.
隆突性皮肤纤维肉瘤是一种局部侵袭性间叶性肿瘤。它通常表现为突出于皮肤表面的硬结斑块。一些患者的临床持续性斑块可能出现萎缩。隆突性皮肤纤维肉瘤的萎缩型可能与一些具有萎缩外观的常见皮肤病混淆。我们报告了一例 40 岁女性，患有隆突性皮肤纤维肉瘤 10 年。分子分析显示 COL1A1 外显子 31 与 PDGFB 外显子 2 之间的融合。病变完全切除，CD34 免疫染色显示切除边缘无肿瘤。据我们所知，这是第二例通过检测 COL1A1-PDGFB 融合基因证实的萎缩性隆突性皮肤纤维肉瘤。这似乎是首例报道在萎缩性隆突性皮肤纤维肉瘤中 COL1A1 外显子 31 与 PDGFB 外显子 2 之间的融合。
