Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
Lancet. 2012 Apr 14;379(9824):1436-46. doi: 10.1016/S0140-6736(11)61137-9. Epub 2012 Mar 12.
Retinoblastoma is an aggressive eye cancer of infancy and childhood. Survival and the chance of saving vision depend on severity of disease at presentation. Retinoblastoma was the first tumour to draw attention to the genetic aetiology of cancer. Despite good understanding of its aetiology, mortality from retinoblastoma is about 70% in countries of low and middle income, where most affected children live. Poor public and medical awareness, and an absence of rigorous clinical trials to assess innovative treatments impede progress. Worldwide, most of the estimated 9000 newly diagnosed patients every year will die. However, global digital communications present opportunities to optimise standards of care for children and families affected by this rare and often devastating cancer. Parents are now leading the effort for widespread awareness of the danger of leucocoria. Genome-level technologies could make genetic testing a reality for every family affected by retinoblastoma. Best-practice guidelines, online sharing of pathological images, point-of-care data entry, multidisciplinary research, and clinical trials can reduce mortality. Most importantly, active participation of survivors and families will ensure that the whole wellbeing of the child is prioritised in any treatment plan.
视网膜母细胞瘤是一种婴幼儿期侵袭性眼癌。生存率和保留视力的机会取决于疾病的严重程度。视网膜母细胞瘤是第一个引起人们关注癌症遗传病因的肿瘤。尽管对其病因有很好的了解，但在中低收入国家，死亡率仍约为 70%，而大多数受影响的儿童都生活在这些国家。公众和医疗意识薄弱，以及缺乏严格的临床试验来评估创新治疗方法，阻碍了进展。在全球范围内，每年估计有 9000 名新诊断的患者中，大多数人将会死亡。然而，全球数字通信为优化受这种罕见且常常具有破坏性的癌症影响的儿童和家庭的护理标准提供了机会。现在，家长们正在努力提高对瞳孔白色这一危险症状的认识。基因组水平的技术可以使每个受视网膜母细胞瘤影响的家庭都能进行基因检测。最佳实践指南、病理图像在线共享、即时数据录入、多学科研究和临床试验可以降低死亡率。最重要的是，幸存者和家庭的积极参与将确保在任何治疗计划中都优先考虑儿童的整体福祉。
