Virgili Gianni, Capocaccia Riccardo, Botta Laura, Bennett Damien, Hadjistilianou Theodora, Innos Kaire, Karim-Kos Henrike, Kuehni Claudia E, Kuhnel Ursula, Mazzini Cinzia, Canete Nieto Adela, Paapsi Keiu, Parravano Mariacristina, Ronckers Cécile M, Rossi Silvia, Stiller Charles, Vicini Giulio, Visser Otto, Gatta Gemma
Azienda Ospedaliero-Universitaria Careggi, Department of Neurosciences, Psychology, Drug Research and Child Health, University of Firenze, Florence, Italy.
IRCCS-Fondazione Bietti, Rome, Italy.
JAMA Ophthalmol. 2024 Oct 10;142(11):1062-70. doi: 10.1001/jamaophthalmol.2024.4140.
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.
DESIGN, SETTING, AND PARTICIPANTS: 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.
视网膜母细胞瘤（RB）的流行病学研究有助于改善其管理。
估计欧洲儿童RB的发病率和生存率，以及这些患者中第二原发性肿瘤（非RB）的发生情况。
设计、设置和参与者：这项队列研究使用了来自31个欧洲国家81个癌症登记处基于人群的数据，这些登记处参与了欧洲癌症登记处（EUROCARE - 6）项目。数据收集于2000年1月至2013年12月进行。纳入0至14岁被诊断为RB的欧洲儿童。数据于2023年5月至11月进行分析。
根据国际肿瘤学疾病分类第三版（ICD - O - 3）诊断为RB，形态学编码为9510 - 9514（视网膜母细胞瘤）且行为为恶性（形态学编码的第五位数字，3）。
年发病率（每百万0 - 14岁儿童）、5年生存率（%）以及后续恶性肿瘤的标准化发病率比（SIR）。
该研究纳入了来自81个登记处的3262例患者（平均[标准差]年龄，1.27[1.63]岁；1706例[52%]为男性，1556例[48%]为女性）。其中，在排除时间覆盖不完整的登记处后，3098例患者被纳入趋势分析：2000年至2003年有940例，2004年至2006年有703例，2007年至2009年有744例，2010年至2013年有856例。估计的欧洲总体发病率为4.0（95%置信区间，3.9 - 4.1）。各国发病率从每年不到2百万到超过6百万不等。在任何地区均未观察到发病率的时间趋势。欧洲总体5年生存率为97.8%（95%置信区间，95.5 - 98.9；3180例）。爱沙尼亚和保加利亚的5年生存率较低（<80%），几个国家为100%。随访期间（最长14年）记录了25例后续恶性肿瘤，SIR为8.2，不同部位病例的平均发病年龄在1.3至8.9岁之间。发现血液系统肿瘤（SIR，5）和骨与软组织肉瘤（SIR，29）的风险增加。
本研究表明，2000年至2013年期间，欧洲0至14岁儿童RB发病率稳定在每100万儿童4.0例，但各国估计值有所不同，且各国生存率差异仍然存在。这些数据可用于监测RB管理和第二肿瘤的发生情况。研究结果表明，未来的登记研究应旨在收集诊断和治疗时标准化的RB分期，以解释差异并可能改善监测。
