欧洲儿童视网膜母细胞瘤的生存率与医疗负担

关于视网膜母细胞瘤（RB）流行病学的研究有助于改善管理措施。旨在估算欧洲儿童RB的发病率和生存率，以及这些患者中第二原发肿瘤（除RB之外）的发生情况。本队列研究采用遵循欧洲癌症登记（EUROCARE-6）项目的31个欧洲国家81个癌症登记处的基于人群的数据。数据收集时间为2000年1月至2013年12月。纳入诊断年龄为0至14岁的欧洲儿童RB病例，分析截止至2023年5月至11月。使用国际肿瘤疾病分类（ICD-O-3）编码9510-9514（视网膜母细胞瘤）及恶性行为（第五位数字为3）确认诊断。主要指标包括：每百万人口的年度发病率（0-14岁）、五年生存率（%）及随访期间次发恶性肿瘤的标准化发病比（SIR）。共纳入3262例患者（平均年龄1.27岁，标准差1.63；男1706例[52%]，女1556例[48%]），来自81个登记处。排除数据不完整的登记处后，纳入趋势分析的患者数为3098：2000-2003年940例，2004-2006年703例，2007-2009年744例，2010-2013年856例。估算的欧洲整体发病率为4.0/百万（95% CI，3.9-4.1）。不同国家的发病率差异较大，从每年少于2万到超过6万不等。无明显的时间趋势。五年总体生存率为97.8%（95% CI，95.5-98.9；3180例）。不同国家的五年生存率差异明显，爱沙尼亚和保加利亚低于80%，而一些国家达到了100%。随访期间记录了25例次发恶性肿瘤（最长14年），SIR为8.2，病例年龄在1.3至8.9岁之间。血液系统肿瘤的风险增加（SIR为5），骨和软组织肉瘤的风险更高（SIR为29）。总结显示，从2000年至2013年，欧洲儿童RB的发病率稳定在每百万人4.0例，但各国估算值存在差异，生存率的国家差异仍然存在。这些数据可用于监测RB的管理和第二肿瘤的发生情况。未来的登记研究应收集标准化的诊断阶段和治疗信息，以解释差异并改进监测体系。

Studies on the epidemiology of retinoblastoma (RB) could lead to improvement in management.To estimate the incidence and survival of RB in European children and the occurrence of second primary tumors (other than RB) in these patients.This cohort study used population-based data from 81 cancer registries in 31 European countries adhering to the European Cancer Registries (EUROCARE-6) project. Data collection took place between January 2000 and December 2013. European children aged 0 to 14 years diagnosed with RB were included. Data were analyzed from May to November 2023.Diagnosis of RB with International Classification of Diseases for Oncology, Third Edition (ICD-O-3), morphology coded 9510-9514 (retinoblastoma) and malignant behavior (fifth digit of morphology code, 3).Annual incidence (per million children aged 0-14 years), 5-year survival (%), and the standardized incidence ratio (SIR) of subsequent malignant neoplasms.The study included 3262 patients (mean [SD] age, 1.27 [1.63] years; 1706 [52%] male and 1556 [48%] female) from 81 registries. Of these, 3098 patients were considered in trend analysis after excluding registries with incomplete time coverage: 940 in 2000 to 2003, 703 in 2004 to 2006, 744 in 2007 to 2009, and 856 in 2010 to 2013. The estimated overall European incidence rate was 4.0 (95% CI, 3.9-4.1). Rates among countries varied from less than 2 million to greater than 6 million per year. No time trend of incidence was observed in any area. The overall European 5-year survival was 97.8% (95% CI, 95.5-98.9; 3180 cases). Five-year survival was lower in Estonia and Bulgaria (<80%) and 100% in several countries. Twenty-five subsequent malignant neoplasms were recorded during follow-up (up to 14 years), with an SIR of 8.2 and with cases occurring at mean ages between 1.3 and 8.9 years across different sites. An increased risk was found for hematological tumors (SIR, 5) and bone and soft tissue sarcomas (SIR, 29).This study showed RB incidence remained stable at 4.0 per 1 000 000 European children aged 0 to 14 years from 2000 to 2013, but estimates varied among countries and differences in survival across countries persist. These data might be used to monitor RB management and occurrences of second tumors. The findings suggest future registry studies should aim to collect standardized RB stage at diagnosis and treatment to interpret disparities and potentially improve surveillance.