伴有血小板源性生长因子D（PDGFD）重排的隆突性皮肤纤维肉瘤：一个以新型弹性微原纤维蛋白1（EMILIN1）::血小板源性生长因子D（PDGFD）融合为特征的病例系列及文献综述
Dermatofibrosarcoma protuberans with PDGFD rearrangements: a case series featuring a novel EMILIN1::PDGFD fusion and comprehensive literature review.
作者信息
Sotiriou Sotiris, Chatzopoulos Kyriakos, Charville Gregory W, Bean Gregory R, Michal Michael, Gross John M, Bridge Julia A, Gardner Jerad M, Agaimy Abbas, Ng Tony L, Cloutier Jeffrey M, Saoud Carla, Linos Konstantinos
机构信息
Department of Pathology, Aristotle University of Thessaloniki (AUTH), Thessaloniki, Greece.
Department of Pathology, Stanford University, Stanford, CA, USA.
出版信息
Virchows Arch. 2025 Apr 1. doi: 10.1007/s00428-025-04088-4.
Dermatofibrosarcoma protuberans (DFSP) is a locally infiltrative mesenchymal neoplasm usually characterized by a COL1A1::PDGFB fusion. A minority of DFSPs have recently been shown to harbor alternative fusions, involving the PDGFD gene. The aim of this case series and literature review is to highlight the clinicopathologic and molecular features of PDGFD-rearranged DFSPs. Eighteen patients (twelve females and six males) with PDGFD-rearranged DFSPs were collected from the authors' institutional archives. Eight (44%) cases harbored a COL6A3::PDGFD fusion, five (28%) an EMILIN2::PDGFD fusion, and two (11%) an EMILIN1::PDGFD fusion. In three (17%) cases, the fusion partner was unknown. A literature review revealed 29 additional cases. Cumulatively, four alternative fusion genes have been detected: COL6A3::PDGFD (24/47, 51%), EMILIN2::PDGFD (12/47, 26%), EMILIN1::PDGFD (2/47, 4%), and TNC::PDGFD (1/47, 2%). In eight (17%) cases, the fusion partner was unknown. Most (20/24, 83%) COL6A3::PDGFD-fused DFSPs occurred in females with only four (17%) cases described in males. Additionally, half of them (12/24, 50%) developed in the breast/chest wall. EMILIN2::PDGFD-fused DFSPs often occurred in males, were located in the extremities (9/12, 75%), exhibited fibrosarcomatous transformation (9/12, 75%), were confined exclusively or primarily to the subcutis (10/12, 83%), and had a well-circumscribed contour (10/12, 83%). Specific molecular alterations in DFSPs correlate with certain clinicopathologic features. Notably, EMILIN2::PDGFD-fused DFSPs have a slight predilection for males, develop almost exclusively in the subcutis, tend to be well-circumscribed, and often exhibit fibrosarcomatous transformation, while COL6A3::PDGFD-fused DFSPs might have a predilection for the breast/chest wall of female patients. To the best of our knowledge, this is the first report of EMILIN1::PDGFD-fused DFSP.
隆突性皮肤纤维肉瘤（DFSP）是一种局部浸润性间叶肿瘤，通常以COL1A1::PDGFB融合为特征。最近发现少数DFSP存在涉及PDGFD基因的其他融合。本病例系列及文献综述的目的是强调PDGFD重排的DFSP的临床病理和分子特征。从作者所在机构的档案中收集了18例PDGFD重排的DFSP患者（12例女性和6例男性）。8例（44%）病例存在COL6A3::PDGFD融合，5例（28%）存在EMILIN2::PDGFD融合，2例（11%）存在EMILIN1::PDGFD融合。3例（17%）病例的融合伴侣未知。文献综述发现另外29例病例。累计已检测到4种其他融合基因：COL6A3::PDGFD（24/47，51%）、EMILIN2::PDGFD（12/47，26%）、EMILIN1::PDGFD（2/47，4%）和TNC::PDGFD（1/47，2%）。8例（17%）病例的融合伴侣未知。大多数（20/24，83%）COL6A3::PDGFD融合的DFSP发生在女性，男性仅4例（17%）。此外，其中一半（12/24，50%）发生在乳房/胸壁。EMILIN2::PDGFD融合的DFSP常发生在男性，位于四肢（9/12，75%），表现为纤维肉瘤样转化（9/12，75%），仅局限于或主要位于皮下组织（10/12，83%），边界清晰（10/12，83%）。DFSP中的特定分子改变与某些临床病理特征相关。值得注意的是，EMILIN2::PDGFD融合的DFSP略倾向于男性，几乎仅发生在皮下组织，边界往往清晰，且常表现为纤维肉瘤样转化，而COL6A3::PDGFD融合的DFSP可能倾向于女性患者的乳房/胸壁。据我们所知，这是EMILIN1::PDGFD融合的DFSP的首次报告。
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