Temming P, Eggert A, Bornfeld N, Sauerwein W, Göricke S, Lohmann D R
Klinik für Kinderheilkunde III, Universitätsklinikum Essen, Germany.
Klin Monbl Augenheilkd. 2013 Mar;230(3):232-42. doi: 10.1055/s-0032-1328158. Epub 2013 Mar 18.
There are approximately 40 new cases of retinoblastoma in Germany per year. Children in whom the tumour is detected when still intraocular have an excellent overall survival rate (> 95%). However, the prognosis of metastasised retinoblastoma remains poor. About 40% of retinoblastoma patients have tumours in both eyes. For these children in particular it is important to save the eye and visual function as much as possible. There are several options for conservative treatment of localised retinoblastoma including laser coagulation, thermotherapy, cryotherapy, brachytherapy and chemotherapy. In recent years, systemic chemotherapy has become the established standard for primary treatment of intraocular retinoblastoma. In case series, intra-arterial, intravitreal and periocular applications of chemotherapy were also shown to be effective in treating intraocular retinoblastoma. Genetic testing is an integral part of the routine diagnostics of all patients. Mutation analysis of tumour material is invaluable for identification of somatic mutations including mutational mosaicism. Genetic testing also identifies children with heritable retinoblastoma, which represent 50% of cases. These children also have a predisposition for the development of tumours outside of the eye (second primary neoplasm). To adequately address these and other late effects in survivors of retinoblastoma, a multidisciplinary approach is needed that optimises therapy and long-term follow-up. Upcoming multicentre clinical trials will evaluate treatment concepts for localised and metastasised retinoblastoma to improve survival rates and quality of life of children with retinoblastoma. This article was translated and modified and was primarily published in Klin Padiatr 2012; 224: 339-347.
德国每年约有40例新发视网膜母细胞瘤病例。肿瘤仍局限于眼内时被发现的儿童总体生存率极佳（>95%）。然而，发生转移的视网膜母细胞瘤预后仍然很差。约40%的视网膜母细胞瘤患者双眼患病。对于这些儿童而言，尽可能挽救眼睛和视功能尤为重要。局部视网膜母细胞瘤的保守治疗有多种选择，包括激光凝固、热疗、冷冻疗法、近距离放射疗法和化疗。近年来，全身化疗已成为眼内视网膜母细胞瘤初始治疗的既定标准。在病例系列研究中，动脉内、玻璃体内和眼周化疗应用于治疗眼内视网膜母细胞瘤也显示出疗效。基因检测是所有患者常规诊断不可或缺的一部分。肿瘤组织的突变分析对于识别体细胞突变（包括突变镶嵌现象）非常重要。基因检测还能识别出遗传性视网膜母细胞瘤患儿，此类患儿占病例的50%。这些儿童还易患眼外肿瘤（第二原发性肿瘤）。为了充分应对视网膜母细胞瘤幸存者的这些及其他晚期效应，需要一种多学科方法来优化治疗和长期随访。即将开展的多中心临床试验将评估局部和转移性视网膜母细胞瘤的治疗方案，以提高视网膜母细胞瘤患儿的生存率和生活质量。本文经翻译和修改，最初发表于《儿科临床》2012年；224: 339 - 347。
