Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004
Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004
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DOI：
10.1136/bjo.2008.146035
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发表时间：
2009-09-01
影响因子：
4.1
通讯作者：
Murphy, M. F. G.
中科院分区：
文献类型：
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作者：
MacCarthy, A.;Bayne, A. M.;Murphy, M. F. G.
背景：视网膜母细胞瘤有遗传性和非遗传性两种形式。在可遗传的形式，有一种倾向的发展non-ocular tumors.Objectives：要确定的类型发生在视网膜母细胞瘤幸存者的非眼肿瘤，并产生这些tumors.Methods的风险估计：我们进行了一项队列研究，其中包括1927例视网膜母细胞瘤诊断在英国1951年和2004年之间。通过国家儿童肿瘤登记处和后续的非眼部肿瘤的发生，使用常规的通知系统的基础上，国家卫生服务中心注册表在British.Results：的1927例，809例被确定为具有遗传形式的疾病和1118假定为具有非遗传形式。102名遗传性和13名非遗传性的患者患上了非眼部肿瘤。在视网膜母细胞瘤诊断后50年，遗传性病例中发生这种肿瘤的累积风险为48.3%（95%置信区间：38.1至59.7%），非遗传性病例为4.9%（1.9至12.4%）。在可遗传病例中观察到的非眼部肿瘤的主要类别为软组织肉瘤（36例，其中21例为平滑肌肉瘤）、骨肉瘤（32例）、癌（13例）、脑和中枢神经系统肿瘤（10例）、黑色素瘤（9例）、白血病（4例）和其他（4例）。共有108个非眼部肿瘤在102 cases.Conclusions：有一个高风险的非眼部肿瘤发生在幸存者的遗传性视网膜母细胞瘤。这些结果对幸存者的临床随访和咨询具有重要意义。
Background: Retinoblastoma occurs in both a heritable and a non-heritable form. In the heritable form, there is a predisposition to the development of non-ocular tumours.Objectives: To identify the types of non-ocular tumour occurring in retinoblastoma survivors and to produce estimates of risk for these tumours.Methods: We carried out a cohort study that included 1927 cases of retinoblastoma diagnosed in Great Britain between 1951 and 2004. Cases were ascertained through the National Registry of Childhood Tumours and followed up for the occurrence of non-ocular tumours using the routine notification system based on the National Health Service Central Registers in Britain.Results: Of the 1927 cases, 809 were known to have the heritable form of the disease and 1118 assumed to have the non-heritable form. 102 of the heritable and 13 of those classified as non-heritable developed a non-ocular tumour. The cumulative risk of developing such a tumour 50 years after retinoblastoma diagnosis was 48.3% (95% confidence interval: 38.1 to 59.7%) in the heritable and 4.9% (1.9 to 12.4%) in the non-heritable cases. The main categories of non-ocular tumours observed in the heritable cases were soft-tissue sarcomas (36 of which 21 were leiomyosarcoma), osteosarcoma (32), carcinoma (13), brain and central nervous system tumours ( 10), melanoma (9), leukaemia ( 4) and others (4). There were a total of 108 non-ocular tumours in 102 cases.Conclusions: There is a high risk of non-ocular tumours occurring in survivors of heritable retinoblastoma. These results have important implications for the clinical follow-up and counselling of survivors.