Objective: To analyze the clinical and histopathological features of uveal leiomyoma. Methods: A retrospective study was performed on 19 patients with uveal leiomyoma confirmed by histopathological examination in Beijing Tongren Hospital from January 2018 to May 2023. All patients underwent local resection of the tumor. Clinical data of the patients, such as gender, age, clinical manifestations, tumor location, size, and B-scan ultrasound examinations were collected. The pathological morphological characteristics of the tissue (cell type) and the expression of the immune markers, including smooth muscle actin, actin, and neural cell adhesion molecule (CD56), were evaluated. Results: Among the 19 intraocular leiomyoma patients, there were 5 males and 14 females. The average age was (38.9±13.7) years, ranging from 14 to 64 years. The course of the disease ranged from 1 to 36 months with an average of (9.3±8.7) months. The most common clinical manifestation was blurred vision (12/19), followed by decreased vision (4/19), increased IOP (2/19), and visual occlusion (1/19) in patients. The tumor was located in the ciliary body in 10 female and 5 male patients, including 2 patients with the iris involved, and in the choroid in 4 female patients. Two patients with a history of breast fibronenoma had uveal leiomyoma in the ciliary body and the choroid, respectively. One patient with a history of uterine leiomyoma suffered uveal leiomyoma in the ciliary body. B-scan ultrasonography showed that the tumor was a solid and medium-low echoic lesion with a clear boundary in all eyes. We divided these leiomyomas into two histopathological types: spindle cell type (15/19) and round cell type (4/19). Immunohistochemical staining disclosed smooth muscle actin and actin were expressed in all tumor cells (19/19, 100%), and CD56 was positive in 16 of 19 eyes (84.2%). The positive expression rates of estrogen and progesterone were 0/19 and 2/19. During the follow-up of 7 to 71 months after surgery, no tumor metastasis occurred. Only 1 male patient had tumor recurrence. Conclusions: The most common site of uveal leiomyoma is the ciliary body, the major clinical manifestation is blurred vision, and the prognosis is good. Most of the tumors are spindle cell tumors, with myogenic and neurogenic histological characteristics. Although uveal leiomyoma is more frequently found in women of reproductive age, it shows no significant correlation with estrogen and progestational hormones.
目的： 探讨葡萄膜平滑肌瘤的临床和组织病理学特征，为其诊疗提供依据。 方法： 回顾性病例系列研究。收集2018年1月至2023年5月在首都医科大学附属北京同仁医院北京同仁眼科中心行眼内肿瘤局部切除术且术后组织病理学检查证实为葡萄膜平滑肌瘤患者的临床及组织病理学资料，总结性别、眼别、年龄、临床表现、肿瘤部位和体积、眼部超声检查结果等特征，观察和分析组织病理学形态特征（进行分型）和免疫标志物［平滑肌肌动蛋白、肌动蛋白、神经细胞黏附分子（CD56）］表达情况，并进行随访。 结果： 共纳入19例葡萄膜平滑肌瘤患者，男性5例，女性14例；年龄为（38.9±13.7）岁，范围为14~64岁；病程为（9.3±8.7）个月，范围为1~36个月。12例患者视物模糊，4例患者视力下降，2例患者眼压升高，1例患者视物遮挡。15例肿瘤位于睫状体（女性10例，男性5例），其中2例累及虹膜；4例肿瘤位于脉络膜（均为女性）。2例女性患者（1例为睫状体平滑肌瘤，1例为脉络膜平滑肌瘤）有乳腺纤维腺瘤病史，1例女性患者（睫状体平滑肌瘤）有子宫平滑肌瘤病史。彩色多普勒超声检查示肿瘤为实性中、低回声病灶，边界清晰，部分肿瘤组织出现囊腔样改变。肿瘤细胞的组织病理学形态分型，15例为梭形细胞型，4例为圆形细胞型。肿瘤细胞免疫组织化学染色检查，19例阳性表达肌源性免疫标志物平滑肌肌动蛋白和肌动蛋白，16例阳性表达神经源性免疫标志物CD56。无病例阳性表达雌激素受体，2例阳性表达孕激素受体。19例患者随访时间为7~71个月，无肿瘤发生转移者，仅1例睫状体平滑肌瘤患者出现肿瘤复发。 结论： 葡萄膜平滑肌瘤常见的发病部位为睫状体，常见的临床表现为视物模糊，预后较好。组织病理学类型以梭形细胞型为主，具有肌源性和神经源性组织学特征；虽然多见于育龄妇女，但肿瘤的发生与性激素受体表达水平无关。.