Childhood Cancer Research Group, New Richards Building, University of Oxford, Old Road Campus, Headington, Oxford OX3 7LG, UK.
Br J Cancer. 2013 Jun 25;108(12):2455-63. doi: 10.1038/bjc.2013.228. Epub 2013 May 14.
Retinoblastoma is an eye tumour of childhood that occurs in heritable and non-heritable forms. In the heritable form, there is a predisposition to the development of non-ocular subsequent primary tumours (SPTs).
This study included 1927 retinoblastoma patients diagnosed in Britain from 1951 to 2004. Ascertainment was through the (UK) National Registry of Childhood Tumours; cases were followed-up for the occurrence of SPTs. Standardised incidence ratios (SIRs) were calculated.
We identified 169 SPTs in 152 patients. The SIR analysis included 145 SPTs with cancer registrations from the years 1971 to 2009. These tumours occurred in 132 patients: 112 of the 781 heritable and 20 of the 1075 (presumed) non-heritable cases under surveillance at the start of this period developed at least one registered SPT. The SIRs for all tumours combined were 13.7 (95% confidence interval 11.3-16.5) in heritable cases and 1.5 (0.9-2.3) in non-heritable cases. The main types of SPT in the heritable cases were leiomyosarcoma, (31 cases; SIR 1018.7 (692.2-1446.0)), osteosarcoma (26 cases; SIR 444.6 (290.4-651.4)), and skin melanoma (12 cases; SIR 18.6 (9.6-32.4)).
The risk of SPTs in heritable retinoblastoma is extremely high. This has important implications for the clinical follow-up and counselling of survivors and their families.
视网膜母细胞瘤是一种儿童眼部肿瘤，有遗传性和非遗传性两种形式。在遗传性形式中，存在发展为非眼部继发原发性肿瘤（SPT）的倾向。
本研究纳入了 1951 年至 2004 年期间在英国诊断的 1927 名视网膜母细胞瘤患者。通过（英国）国家儿童肿瘤登记处进行确认；对 SPT 的发生情况进行随访。计算了标准化发病比（SIR）。
我们在 152 名患者中发现了 169 例 SPT。SIR 分析包括 1971 年至 2009 年癌症登记的 145 例 SPT。这些肿瘤发生在 132 名患者中：781 例遗传性病例中有 112 例，1075 例（推测）遗传性病例中有 20 例在本研究开始时接受监测，至少有一例注册 SPT 发生。所有肿瘤的 SIR 分别为遗传性病例 13.7（95%置信区间 11.3-16.5）和非遗传性病例 1.5（0.9-2.3）。遗传性病例中 SPT 的主要类型为平滑肌肉瘤（31 例；SIR 1018.7（692.2-1446.0））、骨肉瘤（26 例；SIR 444.6（290.4-651.4））和皮肤黑色素瘤（12 例；SIR 18.6（9.6-32.4））。
遗传性视网膜母细胞瘤发生 SPT 的风险极高。这对幸存者及其家属的临床随访和咨询具有重要意义。
