视网膜母细胞瘤远处转移期的临床特点和治疗及预后分析

Clinical features, treatment and prognosis of retinoblastoma in distant metastasis stage

目的分析视网膜母细胞瘤（RB）远处转移期的临床特点、治疗及预后。方法回顾性系列病例研究。收集2005年9月至2013年12月在首都医科大学附属北京同仁医院儿科明确诊断为远处转移期RB的24例（30只眼）患儿的临床资料，其中男性11例，女性13例；就诊年龄7个月至9岁，就诊年龄中位数为26个月；单眼发病18例（右眼12例，左眼6例），双眼发病6例。转移期病例均给予手术、化疗及放疗为主的综合治疗方案。动态监测治疗过程中的不良反应，定期进行血液及其生物化学常规监测。结合临床表现及辅助检查等综合评价治疗效果。以死亡和存活判断预后，并应用乘积极限法绘制生存函数曲线及中位生存时间。结果13例行眼球病理检查发现11例视神经受累，6例视神经受累同时伴脉络膜受累，1例筛板后受累，1例累及角膜及球结膜。远处转移期病例中最多见的是中枢神经系统（CNS）转移（23例），其次为眶内蔓延（10例），其他转移部位分别是骨骼（9例）、骨髓（1例）、胸膜转移（1例）及淋巴结（1例）。23例伴CNS转移的远处转移期患儿均行全身化学治疗及鞘内注射治疗，放射及化学治疗不良反应评估及分级均在Ⅰ或Ⅱ级，均可耐受。随访至2015年12月31日，23例伴有CNS转移的患儿均死亡，中位生存时间6个月；1例无CNS转移患儿无病生存64个月。结论RB最常见的转移部位可能是CNS。RB远处转移期的病例均给予手术、化学治疗及放射治疗为主的综合治疗方案，总体预后不良，但无CNS转移的RB远处转移期患儿预后较好。

Objective To summarize the clinical features, treatment and prognosis of retinoblastoma （RB） patients in distant metastasis stage. Methods Retrospective case series study. Clinical data of 24 cases （30 eyes） with diagnosis of distant metastasis stage RB were collected in pediatrics department of Beijing Tongren Hospital affiliated with Capital Medical University, from September 2005 to December 2013. In these cases, including 11 male cases and 13 female cases, the treatment age ranged from 7 months to 9 years with the median of 26 months. There were 18 unilateral cases （12 cases of right eye and 6 cases of left eye） and 6 bilateral cases. All cases were treated with surgery, chemotherapy and radiotherapy. The adverse reaction, blood routine and biochemical routine were monitored dynamically and regularly during treatment. The clinical manifestations and auxiliary examination were combined to evaluate the therapeutic effect. Determining the prognosis with death and survival, the survival curve and the median survival time were calculated by the product limit method. Results The results of pathologic examination of 13 cases showed 11 cases of optic nerve involvement, 6 cases of optic nerve and choroid involvement, 1 case of post laminar involvement, 1 case of cornea and conjunctiva involvement. The most common metastatic site was central nerve system （CNS） （23 cases）, followed by orbital involvement （10 cases）. Other metastatic sites included bone （9 cases）, bone marrow （1 case）, pleura （1 case） and lymph node （1 case）. 23 patients with CNS metastasis underwent systemic chemotherapy and intrathecal injection. The toxicity and side effects of radiotherapy and chemotherapy were evaluated and classified as grade I-II. Those adverse effects were tolerated by all cases. Followed up to December 31, 2015, all patients with CNS metastasis died and the median survival time was 6 months. Only 1 patient without CNS metastasis disease-free survived for 64 months. Conclusions The most common metastasis site of RB was CNS. The overall prognosis of RB with distant metastasis was poor, in spite of given combined treatment mainly including surgery, chemotherapy and radiotherapy. But the prognosis of RB patients without CNS metastasis in distant metastasis stage was better than with CNS metastasis.