中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (9): 825-828.doi: 10.35541/cjd.20240492

• 论著 • 上一篇    下一篇

国内首报CRTC1::TRIM11融合皮肤肿瘤1例

谭薇    白云    陈裕充    徐明圆    刘业强   

  1. 上海市皮肤病医院  同济大学附属皮肤病医院病理科，上海  200443
  • 收稿日期:2024-09-12 修回日期:2025-01-02 发布日期:2025-09-01
  • 通讯作者: 刘业强 E-mail:lyqdoctor@163.com
  • 基金资助:
    国家自然科学基金（82473508）

CRTC1::TRIM11 fusion cutaneous tumor: the first case reported in China

Tan Wei, Bai Yun, Chen Yuchong, Xu Mingyuan, Liu Yeqiang   

  1. Department of Pathology, Shanghai Skin Disease Hospital, Skin Disease Hospital of Tongji University, Shanghai 200443, China
  • Received:2024-09-12 Revised:2025-01-02 Published:2025-09-01
  • Contact: Liu Yeqiang E-mail:lyqdoctor@163.com
  • Supported by:
    National Natural Science Foundation of China（82473508）

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摘要： 【摘要】 报道国内首例CRTC1::TRIM11融合皮肤肿瘤。患者男，53岁，因左足底斑块3年，逐渐增大、增厚伴破溃、渗液就诊。皮肤科检查：左足底见一肤色斑块，约2 cm × 2 cm，表面覆厚鳞屑状痂皮，局部可见黑褐色痂皮。皮损组织病理检查：真皮内可见边界清楚、无包膜的多个结节融合瘤团；瘤团主要由无色素上皮样细胞及梭形细胞增生构成，呈多结节状，结节间有稀疏间质成分；部分结节呈巢团状排列，部分呈层状或束状排列；可见肿瘤细胞核分裂象。免疫组化染色示SRY盒转录因子10（SOX10）及三结构域蛋白11（TRIM11）在细胞核内强阳性表达。荧光原位杂交检查：CREB转录共激活因子1（CRTC1）基因断裂阳性。RNA转录组测序结果证实，CRTC1::TRIM11基因融合。诊断：CRTC1::TRIM11融合皮肤肿瘤。治疗：行局部扩大切除术。术后随访10个月，未见复发。

关键词: 皮肤肿瘤, 软组织肿瘤, 基因融合, CRTC1::TRIM11融合皮肤肿瘤, 真皮结节状肿瘤

Abstract: 【Abstract】 To report the first case of CRTC1::TRIM11 fusion cutaneous tumor in China. A 53-year-old male patient presented with a progressively enlarging, thickened plaque with ulceration and exudation on the left sole for 3 years. Dermatological examination revealed a skin-colored plaque measuring approximately 2 cm × 2 cm in size on the left sole, covered by thick scaly crusts and circumscribed dark-brown crusts. Histopathological examination of the lesion showed well-circumscribed, unencapsulated, multinodular and coalescing tumor masses in the dermis; the masses were primarily composed of amelanotic epithelioid cells and spindle cells, arranged in a multinodular pattern with sparse stroma; some nodules formed nests, while others exhibited a layered or fascicular pattern; mitotic figures were observed among tumor cells. Immunohistochemical staining demonstrated strong nuclear positivity for SRY-box transcription factor 10 （SOX10） and tripartite motif-containing protein 11 （TRIM11）. Fluorescence in situ hybridization revealed a CRTC1 gene break. RNA transcriptome sequencing confirmed the presence of CRTC1::TRIM11 fusion. A diagnosis of CRTC1::TRIM11 fusion cutaneous tumor was made. The patient received wide local excision of the tumor. No recurrence was observed during 10 months of postoperative follow-up.

Key words: Skin neoplasms, Soft tissue neoplasms, Gene fusion, CRTC1::TRIM11 fusion cutaneous tumor, Dermal nodular tumor

引用本文

谭薇 白云 陈裕充 徐明圆 刘业强. 国内首报CRTC1::TRIM11融合皮肤肿瘤1例[J]. 中华皮肤科杂志, 2025,58(9):825-828. doi:10.35541/cjd.20240492

Tan Wei, Bai Yun, Chen Yuchong, Xu Mingyuan, Liu Yeqiang. CRTC1::TRIM11 fusion cutaneous tumor: the first case reported in China[J]. Chinese Journal of Dermatology, 2025, 58(9): 825-828.doi:10.35541/cjd.20240492