Retinoblastoma
Retinoblastoma
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DOI：
10.1016/s0140-6736(11)61137-9
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发表时间：
2012-04-14
期刊：
影响因子：
168.9
通讯作者：
Gallie, Brenda L.
中科院分区：
文献类型：
--
作者：
Dimaras, Helen;Kimani, Kahaki;Gallie, Brenda L.
视网膜母细胞瘤是一种婴儿期和儿童期的侵袭性眼癌。存活率和挽救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对癌症遗传病因的关注的肿瘤。尽管对视网膜母细胞瘤的病因有很好的了解，但在受影响儿童最多的低收入和中等收入国家，视网膜母细胞瘤的死亡率约为70%。公众和医疗意识不强，缺乏严格的临床试验来评估创新疗法，阻碍了进展。在世界范围内，估计每年新诊断的9000名患者中的大多数将死亡。然而，全球数字通信为优化受这种罕见且往往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。家长们现在正在带头努力，让人们普遍意识到白斑角化的危险。基因组水平的技术可以使基因测试成为每个受视网膜母细胞瘤影响的家庭的现实。最佳实践指南、在线共享病理图像、医疗点数据输入、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。
Retinoblastoma is an aggressive eye cancer of infancy and childhood. Survival and the chance of saving vision depend on severity of disease at presentation. Retino blastoma was the first tumour to draw attention to the genetic aetiology of cancer. Despite good under standing 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, multi disciplinary 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.