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.

Bioptical Laboratory Ltd Plzen Czech Republic

Department of Dermatology Geisinger Medical Center Danville PA USA

Department of Laboratory Medicine Geisinger Medical Center Danville PA USA

Department of Pathology and Laboratory Medicine Dartmouth Hitchcock Medical Center Lebanon NH USA

Department of Pathology and Laboratory Medicine Memorial Sloan Kettering Cancer Center 1275 York Ave New York NY 10065 USA

Department of Pathology and Laboratory Medicine University of British Columbia Vancouver Canada

Department of Pathology and Microbiology University of Nebraska Medical Center Omaha NE USA

Department of Pathology Aristotle University of Thessaloniki Thessaloniki Greece

Department of Pathology Faculty of Medicine in Plzen Charles University Prague Plzen Czech Republic

Department of Pathology Stanford University Stanford CA USA

Division of Molecular Pathology ProPath Dallas TX USA

Division of Surgical Pathology Department of Pathology Johns Hopkins Hospital Baltimore MD USA

Geisel School of Medicine at Dartmouth Hanover NH USA

Institute of Pathology Friedrich Alexander University Erlangen Nürnberg University Hospital Erlangen Erlangen Germany

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