中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (10): 970-974.doi: 10.35541/cjd.20250281

• 研究报道 • 上一篇    下一篇

儿童隆突性皮肤纤维肉瘤8例临床特征分析

刘佳怡1    伏利兵2    孙娟1    徐子刚1    马琳1    韩晓锋1   

  1. 1国家儿童医学中心  首都医科大学附属北京儿童医院皮肤科，北京  100045；2国家儿童医学中心  首都医科大学附属北京儿童医院病理科，北京  100045
  • 收稿日期:2025-05-14 修回日期:2025-08-16 发布日期:2025-09-30
  • 通讯作者: 韩晓锋 E-mail:peak_h@aliyun.com
  • 基金资助:
    北京市医院管理中心“登峰”人才培养计划（DFL20241201）

Clinical features of dermatofibrosarcoma protuberans in 8 children

Liu Jiayi1, Fu Libing2, Sun Juan1, Xu Zigang1, Ma Lin1, Han Xiaofeng1   

  1. 1Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; 2Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China
  • Received:2025-05-14 Revised:2025-08-16 Published:2025-09-30
  • Contact: Han Xiaofeng E-mail:peak_h@aliyun.com
  • Supported by:
    Beijing Hospitals Authority’s Ascent Plan（DFL20241201）

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摘要： 【摘要】 目的 总结儿童隆突性皮肤纤维肉瘤的临床、病理及分子遗传学特征。方法 回顾性分析首都医科大学附属北京儿童医院皮肤科2017年1月至2024年12月诊治的8例隆突性皮肤纤维肉瘤患儿的临床资料，包括一般资料、临床表现、病理检查、分子遗传学检查及治疗情况等资料，总结其临床特征及预后。结果 本组8例患儿均为女性，起病年龄［M（Q1，Q3）］为1.3（0.3，2.6）岁，其中2例为先天性；患儿确诊年龄为5.1（3.7，7.4）岁。皮疹表现为单发的暗红色斑块、斑片或结节，分布于躯干5例（背部3例，腹部1例，胸部1例），下肢3例。8例患儿皮损病理显示肿瘤细胞在真皮及皮下组织内弥漫浸润性生长，未累及表皮；免疫组化染色显示，CD34均为强阳性，可溶性100蛋白均为阴性；细胞增殖指数Ki-67［M（Q1，Q3）］为9.0%（8.0%，17.5%）。荧光原位杂交检测显示，8例均出现COL1A1-PDGFB融合基因或PDGFB基因位点的断裂重排。患儿均接受了手术切除原发皮损的治疗，3例采用局部广泛切除术，2例采用传统Mohs手术，3例采用改良慢Mohs手术，手术切缘均阴性；随访6个月至7年均未见肿瘤复发。结论 儿童隆突性皮肤纤维肉瘤起病年龄往往偏小，临床表现多为萎缩性斑块或斑片，PDGFB基因存在变异，手术治疗后预后较好。

关键词: 皮肤纤维肉瘤, 隆突性皮肤纤维肉瘤, 儿童, 免疫组织化学, 原位杂交, 荧光

Abstract: 【Abstract】 Objective To summarize the clinical, pathological, and molecular genetic features of dermatofibrosarcoma protuberans （DFSP） in children. Methods A retrospective analysis was conducted on clinical data from 8 children with DFSP in the Department of Dermatology, Beijing Children′s Hospital, Capital Medical University from January 2017 to December 2024. General information, clinical manifestations, pathological examinations, molecular genetic examinations, and treatments were analyzed, and clinical features and prognosis were summarized. Results All the 8 cases were females, with ages at onset （M［Q1, Q3］） of 1.3 （0.3, 2.6） years, including 2 congenital cases; their ages at diagnosis were 5.1 （3.7, 7.4） years. Skin lesions manifested as solitary dark red patches, plaques, or nodules, and were located on the trunk in 5 cases （3 on the back, 1 on the abdomen, and 1 on the chest） and on the lower limbs in 3 cases. Histopathological examinations of all the 8 cases showed tumor cells diffusely infiltrating the dermis and subcutaneous tissue without epidermal involvement. Immunohistochemical staining showed that all the cases were strongly positive for CD34 and negative for soluble 100 protein; the Ki-67 labeling index （M［Q1, Q3］） was 9.0% （8.0%, 17.5%）. Fluorescence in situ hybridization revealed the COL1A1-PDGFB fusion gene or PDGFB gene rearrangement in all 8 cases. All the patients underwent surgical excision of the primary skin lesions, including 3 treated with wide local excision, 2 with traditional Mohs surgery, and 3 with modified slow Mohs surgery, and all achieved negative margins. During the follow up of 6 months to 7 years, no tumor recurrence was observed. Conclusions DFSP often occurred at a relatively young age in children, and mostly presented as atrophic patches or plaques. PDGFB gene alterations were commonly observed, and prognosis after surgical treatment was generally favorable.

Key words: Dermatofibrosarcoma, Dermatofibrosarcoma protuberans, Child, Immunohistochemistry, In situ hybridization, fluorescence

引用本文

刘佳怡 伏利兵 孙娟 徐子刚 马琳 韩晓锋. 儿童隆突性皮肤纤维肉瘤8例临床特征分析[J]. 中华皮肤科杂志, 2025,58(10):970-974. doi:10.35541/cjd.20250281

Liu Jiayi, Fu Libing, Sun Juan, Xu Zigang, Ma Lin, Han Xiaofeng. Clinical features of dermatofibrosarcoma protuberans in 8 children[J]. Chinese Journal of Dermatology, 2025, 58(10): 970-974.doi:10.35541/cjd.20250281