Dermatofibrosarcoma protuberans: pathology, genetics and potential therapeutic strategies

• Published in: Annals of diagnostic pathology Vol. 25; pp. 64 - 71
• Main Authors: Thway, Khin, MD, FRCPath, Noujaim, Jonathan, MD, Jones, Robin L, MD, MRCP, Fisher, Cyril, MD, DSc, FRCPath
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.12.2016
• Subjects: Bednář tumor; Biomarkers, Tumor - analysis; COL1A1-PDGFB; Dermatofibrosarcoma - diagnosis; Dermatofibrosarcoma - genetics; Dermatofibrosarcoma - pathology; Dermatofibrosarcoma - therapy; Dermatofibrosarcoma protuberans; Diagnosis, Differential; Fibrosarcoma; Giant cell fibroblastoma; Humans; Immunohistochemistry - methods; Neoplasm Recurrence, Local - genetics; Neoplasm Recurrence, Local - pathology; Neoplasm Recurrence, Local - therapy; Pathology; Pathology, Molecular - methods; Sarcoma; Skin Neoplasms - diagnosis; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Skin Neoplasms - therapy; Translocation; Translocation, Genetic; giant cell fibroblastoma; sarcoma; genetics; pathology; translocation; Bednář tumor; Dermatofibrosarcoma protuberans; gene rearrangement; fibrosarcoma; COL1A1- PDGFB; Translocation; Sarcoma; COL1A1-PDGFB; Giant cell fibroblastoma; Fibrosarcoma
• ISSN: 1092-9134; 1532-8198
• DOI: 10.1016/j.anndiagpath.2016.09.013

Abstract Dermatofibrosarcoma protuberans (DFSP), the most common dermal sarcoma, is a malignant fibroblastic tumor most frequently arising in middle-aged adults. It is typically a low-grade sarcoma that grows slowly but has a high rate of local recurrence with low metastatic potential. DFSP is characterized by a specific translocation t(17;22)(q22;q13) leading to formation of COL1A1 - PDGFB fusion transcripts. Histologically DFSP has characteristic morphology, of storiform islands of bland spindle cells, and immunohistochemically it shows diffuse expression of CD34. However, the morphology and immunoprofile can overlap with a variety of other soft tissue neoplasms. The preferred management of localized disease is wide surgical resection or Mohs micrographic surgery, while radiotherapy may be used for margin-positive disease where re-excision is not possible, or for inoperable disease. DFSP is generally regarded as refractory to conventional chemotherapy. Treatment options for systemic disease have been previously limited, but the PDGFβR, KIT and ABL inhibitor imatinib is now an option for effective systemic therapy. Continued insight into the tumorigenic molecular changes generated by the fusion oncogene may lead to further specific targeted treatments. We review DFSP, discussing the morphologic spectrum and variants, immunohistochemistry, molecular genetic findings, potential targeted treatments and the differential diagnosis.