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目的探讨脉络膜平滑肌瘤的临床病理特点,提高其诊断与鉴别诊断水平。方法收集2004年1月—2014年12月北京同仁医院眼科眼内平滑肌瘤5例,行HE及免疫组织化学染色观察。结果患者平均年龄35.4岁,其中男1例,女4例,平均随访4.5年。眼底检查见周边或后极部无色素性脉络膜占位病变,合并有视网膜脱离。同时,所有患者行眼部超声检查,其中2例行了超声造影检查;所有患者均行增强MRI检查。超声检查显示球内占位性病变,边界清晰,可见或未见挖空征;2例行超声造影检查的患者,瘤体内均可见造影剂完全充填;增强MRI结果均显示眼内占位性病变并视网膜脱离,T1、T2加权像等信号影,增强MRI眼内实性占位,造影剂呈典型“快进-快出”型。组织学瘤细胞呈梭形、卵圆形;胞浆淡染细颗粒状;弥漫阳性表达vimentin、SMA,部分病理局灶阳性表达Syn、Chg-A、CD56或PR;阴性表达AE1/AE3、S-100、HMB-45和CD117。结论眼内平滑肌瘤少见,尤其是后极部脉络膜平滑肌瘤更为罕见。临床上与无色素脉络膜黑色素瘤、神经鞘瘤、髓上皮瘤等鉴别困难。详细的检查眼底、巩膜透照试验、眼部超声造影检查及增强MRI检查,并结合患者的一般情况及病史,综合对肿瘤性质进行判断。病理检查可明确诊断,瘤细胞伴有肌源性及神经源性免疫表达提示其可能来源于神经嵴。
Objective To investigate the clinicopathological features of choroidal leiomyoma and to improve its diagnostic and differential diagnosis. Methods From January 2004 to December 2014, Beijing Tongren Hospital ophthalmic leiomyoma of the eye in 5 cases, HE and immunohistochemical staining. Results The average age of patients was 35.4 years old, including 1 males and 4 females, with an average follow-up of 4.5 years. Fundus examination showed peripheral or posterior pole choroidal space-occupying lesions, with retinal detachment. At the same time, all patients underwent ocular ultrasound examination, of which 2 cases underwent contrast-enhanced ultrasound examination; all patients underwent enhanced MRI. Ultrasound examination showed space-occupying lesions in the ball, the border is clear, visible or no hollow sign; 2 patients undergoing contrast-enhanced ultrasound imaging showed complete contrast media filling; enhanced MRI findings showed intraocular space-occupying lesions And retinal detachment, T1, T2-weighted images and other signals, enhanced MRI intraocular solid mass, contrast agent was typical “fast forward - fast out ” type. Histologically, tumor cells were fusiform and oval in shape; light cytoplasm was finely grained; vimentin and SMA were diffusely expressed, Syn, Chg-A, CD56 or PR were positive in some pathological lesions; negatively expressed AE1 / AE3, S -100, HMB-45 and CD117. Conclusions Intraocular leiomyoma is uncommon, especially in posterior pole choroidal leiomyoma. Clinically with no choroidal melanoma, Schwannoma, myeloma and other identification difficulties. Detailed examination of fundus, scleral transillumination test, contrast echocardiography and enhanced MRI examination, combined with the general condition and history of the patient, to judge the nature of the tumor. Pathological examination can be clearly diagnosed, tumor cells associated with myogenic and neurogenic immune expression suggest that it may come from neural crest.