眼眶色素性血管周围上皮样细胞瘤伴融合：分子评估与文献综述
Pigmented perivascular epithelioid cell tumors of the orbit with :: fusion: Molecular evaluation and literature review.
作者信息
Takeda-Miyata Naoko, Yoshida Ken-Ichi, Shirono Miho, Watanabe Akihide, Kukita Yoji, Sotozono Chie, Konishi Eiichi
机构信息
Department of Pathology, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachidori-Hirokoji, Kamigyo-ku, Kyoto City, 602-8566, Japan.
Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, 3-1-69 Otemae, Chuo-ku, Osaka City, 540-0008, Japan.
出版信息
Am J Ophthalmol Case Rep. 2025 Jul 8;39:102378. doi: 10.1016/j.ajoc.2025.102378. eCollection 2025 Sep.
PURPOSE
To elucidate the clinical characteristics of rare orbital pigmented perivascular epithelioid cell tumors (PEComa) with () rearrangement through a literature review.
OBSERVATIONS
A 49-year-old female was referred to our hospital with a mass measuring 16 × 14 mm in the extraconal space of the right orbit. Suspecting hemangioma or distended hematoma clinically, the tumor was completely excised through the right nasal conjunctiva. Although initial histological evaluation raised the suspicion of malignant melanoma, subsequent immunohistochemistry and molecular analyses led to a diagnosis of -rearranged PEComa with the :: fusion gene. The patient's visual function was preserved 14 months postoperatively, with no evidence of recurrence.
CONCLUSIONS AND IMPORTANCE
Although rare, rearranged PEComa should be considered in the differential diagnosis of pigmented orbital tumors.
目的
通过文献综述阐明伴有（）重排的罕见眼眶色素性血管周上皮样细胞瘤（PEComa）的临床特征。
观察结果
一名49岁女性因右眼眶锥外间隙有一个大小为16×14 mm的肿块被转诊至我院。临床怀疑为血管瘤或扩张性血肿，通过右鼻结膜将肿瘤完整切除。尽管最初的组织学评估怀疑为恶性黑色素瘤，但随后的免疫组化和分子分析诊断为伴有::融合基因重排的PEComa。患者术后14个月视觉功能得以保留，无复发迹象。
结论及重要性
尽管罕见，但在色素性眼眶肿瘤的鉴别诊断中应考虑重排的PEComa。
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