Dermatofibrosarcoma protuberans: a population-based cancer registry descriptive study of 66 consecutive cases diagnosed between 1982 and 2002

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare malignant tumour of the skin, with an estimated incidence of 0.8 to five cases per 1 million people per year. OBJECTIVE: To study epidemiological, immunohistochemical and clinical features, delay in diagnosis, type of treatment and outcome of DFSP from 1982 to 2002. METHODS: Using data from the population-based cancer registry, 66 patients with pathologically proved DFSP were included (fibrosarcomatous DFSP were excluded). Each patient lived in one of the four departments of Franche-Comté (overall population of 1 million people) at the time of diagnosis. The main data sources came from public and private pathology laboratories and medical records. The rules of the International Agency for Research on Cancer were applied. RESULTS: The estimated incidence of DFSP in Franche-Comté was about three new cases per 1 million people per year. Male patients were affected 1.2 times as often as female patients were. The trunk (45%) followed by the proximal extremities (38%) were the most frequent locations. DFSP occurred mainly in young adults between 20 and 39 years of age. Mean age at diagnosis was 43 years, and the mean delay in diagnosis was 10.08 years. Our 66 patients initially underwent a radical local excision. Among them, 27% experienced one or more local recurrences during 9.6 years of follow-up. There was one regional lymph node recurrence without visceral metastases. These recurrences were significantly related to the initial peripheral resection margins. We observed a local recurrence rate of 47% for margins less than 3 cm, vs. only 7% for margins ranging from 3 to 5 cm [P=0.004; OR=0.229 (95%, CI=0.103-0.510)]. The mean time to a first local recurrence was 2.65 years. Nevertheless, there was no death due to the DFSP course at the end of the follow-up, and the final outcome was favourable. CONCLUSION: Our study emphasizes the importance of wide local excision with margins of at least 3 cm in order to prevent local recurrence. However, the recent development of inhibitors of signal transduction by the PDGFB pathway should soon modify the surgical strategy, which is often too mutilating.     

An unusual dermatofibrosarcoma protuberans: a case report

Dermatofibrosarcoma protuberans (DFSP) previously called Morbus Darier is an intermediate grade sarcoma with a fairly high rate of recurrence, it occurs most commonly on the trunk and extremities but may also occur in the head and neck region. Treatment of choice is wide excision. A 69-year-old female patient with a 57-year history of dermatofibrosarcoma protuberans is presented. The lesion appeared on the right forehead and both eyelids at the age of 12 years. The patient required 64 surgeries mostly for the head and neck lesions.     

隆突性皮纤维肉瘤23例临床分析

本文报告了我科1978～1990年间收治的降突性皮纤维肉瘤23例,均经组织学证实.治疗以手术切除为主,术后局部复发率为65.2%.无一例发生转移.切除不彻底是复发的主要原因.作者指出广泛切除是防止复发的主要措施,手术前后的放疗有可能减少复发.     

Atrophic variants of dermatofibroma and dermatofibrosarcoma protuberans

Dermal atrophy of more than 50% of the locoregional dermis may be the predominant histopathological feature in dermatofibroma and dermatofibrosarcoma protuberans. This may cause diagnostic difficulties. In the present study 26 cases of atrophic dermatofibroma were compared with three cases of atrophic dermatofibrosarcoma protuberans. Clinically, both conditions mostly occurred on the (upper) trunk of females. While atrophic dermatofibroma usually presented as a reddish, umbilicated lesion (0.5–1-cm), often suspected to be a basal cell carcinoma, atrophic dermatofibrosarcoma protuberans showed irregularly arranged tan-brown plaques (3–6 cm). Histologically, atrophic dermatofibroma showed a regular silhouette with a smooth nodular (9/26) or scalloped lower margin with an intervening lace-like pattern of superficial fatty tissue infiltration (17/26) and variable sclerosis; atrophic dermatofibrosarcoma protuberans showed a deep, irregular infiltration of fatty tissue in a lacelike/honeycomb and/ or multilayered pattern, but no sclerosis. Immunohistochemically, atrophic dermatofibroma was mostly negative with QBEnd 10 (CD34; 24/26), variably positive for factor XIIIa (20/26) and metallothionein (11/26). Labelling for factor XIIIa and metallothionein was usually seen in 'early' (metabolically active) lesions, while 'late' sclerotic ones were negative. In contrast to atrophic dermatofibroma all three atrophic dermatofibrosarcoma protuberans showed a consistently uniform profile: CD34 positive, factor XIIIa and metallothionein negative. Our study delineates atrophic dermatofibroma and atrophic dermatofibrosarcoma protuberans as distinct entities clearly distinguishable from each other by clinicopathologic criteria.     

伴有肌样/肌纤维母细胞性分化的隆突性皮纤维肉瘤的临床病理分析

目的 探讨隆突性皮纤维肉瘤（ＤＦＳＰ）中肌样／肌纤维母细胞性分化的本质及其临床病理学意义。方法 采用常规ＨＥ切片对１２４例ＤＦＳＰ进行筛选,对6例伴有肌样／肌纤维母细胞性分化的ＤＦＳＰ病例进行免疫组织化学标记,其中２例加做电镜检测。结果 肌样／肌纤维母细胞性分化多出现在纤维肉瘤型ＤＦＳＰ（ＦＳ－ＤＦＳＰ）中,表现为肿瘤周边部或肿瘤内散在性分布的深嗜伊红色小结节或短要束,由梭形细胞组成,细胞多无异型性,核分裂象也罕见,形态上似平滑肌细胞或肌纤维母细胞。免疫组织化学标记显示肌样区域细胞表达α－平滑肌肌动蛋白和肌物质特异性肌动抗原,不表达ＣＤ３４;电镜观察证实细胞含有质膜下微丝束、局灶性致密体及微胸饮囊泡样结构,与肌纤维母细胞相一致,结论 ＤＦＳＰ中的肌样／肌纤维母细胞性分化可能是间质中肌纤维母细胞增生的结果,并非代表了瘤细胞的真性肌纤维母细胞性分化。     

隆突性皮肤纤维肉瘤20例临床病理分析

20例隆突性皮肤纤维肉瘤临床特点为发生于真皮内、病程长、常反复局部复发。组织学特征为梭形瘤细胞围绕小血管排列成车辐状结构且遍及整个瘤体;瘤细胞成分单一、核轻度异型、核分裂象少见;瘤体常包裹较多脂肪细胞和皮肤附件;瘤组织常向皮下脂肪呈树枝状浸润性生长。本文介绍了新近的色素型和纤维肉瘤型两个亚型。     

A case of dermatofibrosarcoma protuberans in the skin over the breast

Dermatofibrosarcoma protuberans (DFSP) is a slow-growing but locally aggressive, fibrous tumor that has a high rate of local recurrence after surgical resection. This tumor occurs most commonly in the trunk and proximal extremities. In this report we present a case of dermatofibrosarcoma protuberans in the skin over the breast which was re-excised after pathological diagnosis, considering cosmetic aspects. Only three other cases of dermatofibrosarcoma protuberans of the anterior chest wall have been encountered in our hospital, and all of these cases were male. The presence of this tumor in the skin over the breast appears to be rare in females. Careful complete resection is recommended for this type of tumor.     

128例隆突性皮纤维肉瘤临床疗效分析

目的探讨隆突性皮纤维肉瘤的诊断、复发原因及早期扩大切除手术的治疗效果.方法 1969～2001年我院共收治128例隆突性皮肤纤维肉瘤患者,对其临床和病理资料进行回顾性分析.结果 128例隆突性皮肤纤维肉瘤行扩大切除54例,扩大切除加植皮或转移皮瓣修复术56例,局部切除术后行放疗10例.首诊误诊率高达52.2%.全组病例复发率为53.1%,8例死于肿瘤转移.首次手术即时或延期(术后3个月内)行扩大切除者60例,8例(13.3%)复发,明显低于总体复发率53.1%(χ2=28.4,P<0.001).局部切除后行放射治疗10例,2年内4例(40%)复发,与总体复发率相比差异无显著性(χ2=0.642,P>0.05).结论认识不足,首次治疗误诊,局部手术切除范围过于保守是局部复发率高的主要原因;早期三维扩大切除可有效降低隆突性皮肤纤维肉瘤的局部复发率;放射治疗不能降低局部复发率.     

An unusual clinical presentation of myxoid dermatofibrosarcoma protuberans with a prominent vasculature: A potential pitfall in the diagnosis of myxoid soft tissue tumors

Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumor that arises primarily on the trunk and extremities but seldom on the scalp. Several variants of DFSP have been described, including myxoid DFSP. Although typical DFSP may have focally myxoid areas, myxoid DFSP, in which most of the stroma is myxoid, is rare and can pose diagnostic challenges. Here, we report a case of myxoid DFSP with an unusual clinical presentation that could have been mistaken for a lipoma. Additionally, the myxoid DFSP displayed prominent vasculature in a myxoid stroma, which could have been mistaken for a myxoid liposarcoma.     

Molecular and clinicopathological analysis of dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a dermal and subcutaneous tumor of intermediate malignancy. The most remarkable cytogenetic feature of DFSP is the chromosomal translocation t(17;22)(q22;q13), causing a fusion of the platelet-derived growth factor beta chain (PDGFB) gene at 22q13, and the collagen type 1 alpha 1 (COL1A1) at 17q22. The aim of the study was to analyze the molecular characteristic of DFSP in conjunction with histopathological and clinical features.