Department of Anatomic Pathology, Graduate School of Medicine Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Curr Treat Options Oncol. 2019 Mar 14;20(4):29. doi: 10.1007/s11864-019-0628-3.
Cutaneous sarcoma is a group of malignant mesenchymal tumors primarily involving the dermis, and it is characterized by extreme clinicopathological heterogeneity. Although its occurrence rate is rare, dermatofibrosarcoma protuberans (DFSP) is one of the most common types of dermal sarcoma. DFSP grows slowly and tends to relapse locally after inadequate resection. There are various histological variants of DFSP tumors and it often mimics benign lesions such as dermatofibroma and scar, which make accurate diagnosis difficult and delayed, and some cases progress to the stage where the tumor is unresectable. Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment. For example, some clinical studies have confirmed the efficacy of imatinib methylate, an αPDGFR-targeted therapy for unresectable or metastatic DFSP. The present review summarizes recent updates in DFSP research, diagnostics, and treatment.
皮肤肉瘤是一组主要累及真皮的恶性间叶性肿瘤，其具有极端的临床病理异质性。虽然其发生率较低，但隆突性皮肤纤维肉瘤（DFSP）是最常见的皮肤肉瘤类型之一。DFSP 生长缓慢，在不充分切除后易局部复发。DFSP 肿瘤存在多种组织学变异，常模拟良性病变，如皮肤纤维瘤和瘢痕，这使得准确诊断变得困难且延迟，一些病例进展为肿瘤无法切除的阶段。近年来癌症遗传学和分子生物学方法的进展阐明了 COL1A1-PDGFB 融合基因、与 DFSP 发病机制相关的一些新的融合基因变异和途径，从而推动了皮肤肉瘤的诊断和治疗的发展。例如，一些临床研究已经证实了针对不可切除或转移性 DFSP 的 αPDGFR 靶向治疗药物伊马替尼甲醚的疗效。本综述总结了 DFSP 研究、诊断和治疗的最新进展。
