Possible role of the collagen type I alpha 1–platelet-derived growth factor beta chain fusion gene in the development of dermatofibrosarcoma protuberans with fibrosarcomatous transformation

Fuminori Katsumata MD, Koji Kamiya MD, PhD, Hitomi Miyauchi BEng, Hirofumi Okada MD, Atsuko Sato MD, PhD, Takeo Maekawa MD, PhD, Mayumi Komine MD, PhD, Mamitaro Ohtsuki MD, PhD
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Abstract

Dermatofibrosarcoma protuberans with fibrosarcomatous transformation (DFSP-FS) is a rare variant, with higher rates of recurrence and metastasis than DFSP. Detection of the collagen type I alpha 1 (COL1A1)–platelet-derived growth factor beta chain (PDGFB) fusion gene is useful for the diagnosis of DFSP. In this letter, we report a case of DFSP-FS, focusing on the expression of the COL1A1-PDGFB fusion gene in the lesions. Increased expression of the COL1A1-PDGFB fusion gene may be associated with fibrosarcomatous changes during the pathogenesis of DFSP.

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I型胶原α1-血小板衍生生长因子β链融合基因在纤维肉瘤转化的皮肤纤维肉瘤隆突发展中的可能作用
伴有纤维肉瘤转化的隆突性皮肤纤维肉瘤(DFSP‐FS)是一种罕见的变体,其复发和转移率高于DFSP。检测I型胶原α 1 (COL1A1) -血小板衍生生长因子β链(PDGFB)融合基因对诊断DFSP有重要意义。在这封信中,我们报告了一例DFSP - FS,重点关注COL1A1 - PDGFB融合基因在病变中的表达。COL1A1 - PDGFB融合基因的表达增加可能与DFSP发病过程中纤维肉瘤的改变有关。
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CiteScore
0.60
自引率
10.00%
发文量
69
审稿时长
12 weeks
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