Dermatofibrosarcoma protuberans (DFSP) is a rare proliferative condition representing skin sarcomas which is known to locally recur yet very rarely metastasizes. Its genetic background is a reciprocal translocation t(17;22)(q22;q13) that producesCOL1A1-PDGFBgene fusion. Complete resection is the primary treatment. The aim of this review is to outline the pathogenesis, diagnosis, and management of DFSP. A clear-cut distinction between low-to-moderate-grade DFSP with excellent prognosis and high-grade fibrosarcomatous DFSP with a much worse prognosis is underlined. Malignant transformation within DFSP (or high histologic grade), older age, being female, large primary tumor size (≥10 cm), narrow surgical margins of excision (<3 cm), surgical margin positivity for tumor cells, short time to recurrence, numerous recurrences, tumor that was recently rapidly enlarging, and presence of pain in the tumor have all been proposed as clinicopathological risk factors for recurrence and metastasis. A tendency for local growth and local relapses of well- and moderately differentiated DFSPs is an argument for their surgical excision, possibly combined with reconstructive surgery, even in patients of advanced age. Another main point of this review is that cases of DFSP with fibrosarcomatous transformation are a challenge and require careful medical attention. Both anatomopathological evaluation of the presence of lymphovascular space invasion and sentinel lymph node biopsy at DFSP surgery merit further study.
隆突性皮肤纤维肉瘤是一种罕见的皮肤肉瘤增殖性疾病，以局部复发率高但极少转移为特征。其遗传学背景为t(17;22)(q22;q13)相互易位导致的COL1A1-PDGFB基因融合。完整手术切除是主要治疗手段。本综述旨在系统阐述隆突性皮肤纤维肉瘤的发病机制、诊断及治疗策略，重点强调预后良好的低-中级别病变与预后极差的高级别纤维肉瘤型病变的明确区分。目前公认的临床病理学复发与转移危险因素包括：肿瘤恶性转化（或高级别组织学分级）、高龄、女性、原发肿瘤体积大（≥10 cm）、手术切缘过窄（<3 cm）、切缘肿瘤细胞阳性、复发间隔时间短、多次复发、近期肿瘤快速增大以及肿瘤疼痛等。高分化和中分化隆突性皮肤纤维肉瘤的局部生长和复发倾向支持其应接受手术切除（必要时联合重建手术），即使是高龄患者也应考虑。本综述另一要点指出，发生纤维肉瘤转化的隆突性皮肤纤维肉瘤病例具有特殊挑战性，需要格外审慎的医疗关注。术中淋巴血管间隙浸润的病理学评估及前哨淋巴结活检的价值值得进一步研究。
Dermatofibrosarcoma Protuberans: An Updated Review of the Literature
肿瘤(癌症)患者之家