Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement
Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement
复制标题
DOI：
10.1186/1746-1596-7-166
复制
发表时间：
2012-11-30
影响因子：
2.6
通讯作者：
Fang, Hong
中科院分区：
文献类型：
--
作者：
Qiao, Jianjun;Patel, Kayuri U.;Fang, Hong
隆突性皮肤纤维肉瘤是一种局部侵袭性间叶肿瘤。它通常表现为突出于皮肤表面的硬化斑块。有些患者临床上有可能是萎缩性的持续斑块。隆突性皮肤纤维肉瘤的萎缩型可能与一些常见的皮肤病相混淆。我们报告一位40岁女性，有10年的萎缩性隆突性皮肤纤维肉瘤病史。分子生物学分析显示COL 1A 1外显子31与PDGFB外显子2之间存在融合。病变被完全切除，CD 34免疫染色显示切除边缘呈阴性。据我们所知，这是第二例通过检测COL 1A 1-PDGFB融合基因证实的萎缩性隆突性皮肤纤维肉瘤。这似乎是第一个报告的融合COL 1A 1外显子31 PDGFB外显子2的萎缩性隆突性皮肤纤维肉瘤。
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.