儿童眼恶性髓上皮瘤7例临床分析并文献复习

Ocular malignant medulloepithelioma in children: Clinical analysis of 7 cases and literature review

目的 分析并研究眼恶性髓上皮瘤(MEPL)的临床表现、影像学特征、病理学特点、治疗及预后情况。方法 对2020年1月1日—2022年3月1日期间北京同仁医院儿科收治的7例病理确诊为眼恶性MEPL的病例进行回顾性分析,并随访预后。结果 7例恶性髓上皮瘤患者中,男5例,女2例,发病年龄范围20天~153个月:2例小于12个月,3例为1-3岁,2例大于3岁。临床表现主要包括白瞳(5例)、眼红(5例)、眼球突出(3例)、斜视(2例)、畏光(1例)、视力障碍(1例)等,均发生于单侧眼,其中右侧眼5例,左侧眼2例;1例发生中枢神经系统(CNS)转移合并淋巴结转移。肿瘤复发3例。病理分型1例MEPL畸胎瘤样型和6例MEPL非畸胎瘤样型。肿瘤侵及脉络膜及神经、神经管包括单纯侵犯大范围脉络膜、侵犯大范围脉络膜及视神经至切除断端和侵犯大范围脉络膜并存在脉管内瘤栓者各1例。治疗方法包括局部切除手术、眼球摘除术、全身静脉化疗、鞘注化疗、放疗等。仅局部切除的患者,病程2年后出现复发。规范治疗的5例患者,均获得完全缓解;1例CNS转移患儿化疗后获得了部分缓解。随访至2022年8月30日,1例死亡,6例患者存活。结论 国际尚无眼恶性MEPL的规范化治疗方案,多无以局部治疗为基础的综合治疗,静脉化疗及鞘注化疗可应用于眶外浸润、转移的患者,并获得较好疗效。

Objective To analyze the clinical manifestations,imaging features,pathological features,treatment and prognosis of ocular malignant myeloepithelioma(MEPL).Methods Clinical data of 7 cases of ocular malignant MEPL,who were pathologically diagnosed in Pediatric Ward of Beijing Tongren Hospital from January 1,2020 to March 1,2022,were analyzed retrospectively,the prognosis was followed up.Results Among 7 malignant MEPL patients,there were 5 males and 2 females.The age of onset ranged from 20 days to 153 months,2 cases were less than 12 months old,3 cases were 1-3 years old,and 2 cases were more than 3 years old.The clinical manifestations included leukocoria(5 cases),red eye(5 cases),exophthalmos(3 cases),strabismus(2 cases),photophobia(1 case)and visual impairment(1 case).All cases occurred in unilateral eye,among which 5 cases occurred in right and 2 occurred in left.Central nervous system metastasis and lymph node metastasis occurred in 1 case.Tumor recurrence occurred in 3 cases.In pathology,1 case was teratoid malignant MEPL and 6 cases were nonteratoid.Large-scale choroid was invaded in 1 case,and both large-scale choroid and optic nerve end invaded in 1 case,and both large-scale choroid and sclera invaded in 1 case.The treatment methods include local excision,enucleation,systemic intravenous chemotherapy,sheath chemotherapy,radiotherapy.One patient who underwent only local resection relapsed after 2 years.All 5 patients who received standard chemotherapy achieved complete remission.One patient with central nervous system metastasis achieved partial remission after chemotherapy.All patients were followed up to August 30,2022.1 patient died and 6 patients survived.Conclusions There is no standardized treatment of ocular malignant MEPL,and comprehensive treatments are mostly based on various local treatments.Intravenous chemotherapy and intrathecal chemotherapy can be applied on patients with extra-orbital infiltration and metastasis,and could achieved good effects.