Dermatology Department, Instituto Valenciano de Oncología, Valencia, Spain.
Semin Diagn Pathol. 2013 Feb;30(1):13-28. doi: 10.1053/j.semdp.2012.01.002.
Dermatofibrosarcoma protuberans (DFSP) is a rare superficial tumor characterized by high rates of local recurrence and low risk of metastasis. DFSP occurs most commonly on the trunk and proximal extremities, affects all races, and often develops between the second and fifth decade of life. The tumor grows slowly, typically over years. Histologically, several variants of DFSP have been described and should be well characterized to avoid misdiagnosis with other tumors. These include pigmented (Bednar tumor), myxoid, myoid, granular cell, sclerotic, atrophic DFSP, giant cell fibroblastoma, and DFSP with fibrosarcomatous areas. Of all these variants, only the DFSP with fibrosarcomatous areas is high grade, with a higher rate of local recurrence and distant metastasis. DFSP is genetically characterized by the t(17;22)(q22;q13), resulting in the fusion of alpha chain type 1 of collagen gene and platelet-derived growth factor beta gene. This translocation is present in 90% of DFSP and represents a very useful tool in the differential diagnosis of DFSP with other tumors with similar histology. The standard treatment is wide local excision with at least a 2-cm margin. However, local recurrence after apparently adequate surgical excision is well recognized. Mohs micrographic surgery would be the treatment of choice with a better cure rate and maximal conservation of tissue. When surgery is insufficient, clinical evidence has suggested that imatinib mesylate is a safe and effective treatment in DFSP, especially in cases of local advanced or metastatic disease. This article presents an overview of the state of the art in the clinicopathological management of this disease.
隆突性皮肤纤维肉瘤（DFSP）是一种罕见的浅表肿瘤，其局部复发率高，转移风险低。DFSP 最常发生于躯干和近端肢体，影响所有种族，通常发生于生命的第二至第五个十年。肿瘤生长缓慢，通常需要数年时间。组织学上，DFSP 有几种变体，应进行良好的特征描述，以避免误诊为其他肿瘤。这些变体包括色素性（Bednar 瘤）、黏液样、肌样、颗粒细胞样、硬化性、萎缩性 DFSP、巨细胞成纤维细胞瘤和具有纤维肉瘤样区域的 DFSP。在所有这些变体中，只有具有纤维肉瘤样区域的 DFSP 是高级别肿瘤，具有更高的局部复发率和远处转移率。DFSP 的遗传学特征是 t(17;22)(q22;q13)，导致胶原基因的α链 1 型和血小板衍生生长因子β基因融合。这种易位存在于 90%的 DFSP 中，是鉴别具有相似组织学的其他肿瘤的非常有用的工具。标准治疗是广泛局部切除，至少切除 2cm 边缘。然而，明显充分的手术切除后局部复发是众所周知的。Mohs 显微外科手术是首选治疗方法，具有更高的治愈率和最大限度的组织保留。当手术不足时，临床证据表明甲磺酸伊马替尼在 DFSP 中是一种安全有效的治疗方法，特别是在局部晚期或转移性疾病的情况下。本文介绍了该疾病临床病理管理的最新进展。
