Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
Clin Genet. 2017 Dec;92(6):587-593. doi: 10.1111/cge.13035. Epub 2017 Aug 17.
Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17% to 18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring.
We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16 to 45 years were included.
Patients with bilateral disease were significantly more likely to understand the implications of retinoblastoma for siblings and children. There was a significant association between not knowing the results of genetic testing or not understanding the implications and not having children, particularly in women. Surprisingly, this was also true for individuals treated for unilateral disease with a low risk of retinoblastoma for their offspring.
We are concerned that individuals may be making life choices based on insufficient information regarding risks of retinoblastoma and reproductive options. We suggest that improvement in transition care is needed to enable individuals to make informed reproductive decisions and to ensure optimal care for children born at risk of retinoblastoma.
视网膜母细胞瘤是儿童期眼部最常见的恶性肿瘤，几乎所有双侧肿瘤和约 17%至 18%的单侧肿瘤都是由于生殖系 RB1 基因中的致癌突变引起的。基因检测可实现对受影响个体、兄弟姐妹和未来后代的准确风险评估和最佳临床管理。
我们对 292 名年龄在 16 至 45 岁的个体进行了英国范围内的视网膜母细胞瘤遗传检测理解情况的首次调查。
双侧疾病患者更有可能了解视网膜母细胞瘤对兄弟姐妹和子女的影响。不知道遗传检测结果或不了解其含义与没有孩子之间存在显著关联，尤其是对于女性而言。令人惊讶的是，对于接受单侧疾病低风险治疗且其子女发生视网膜母细胞瘤风险较低的个体，也存在这种情况。
我们担心个体可能会根据有关视网膜母细胞瘤风险和生殖选择的信息不足而做出生活选择。我们建议需要改进过渡护理，以使个体能够做出明智的生殖决策，并确保对有风险的儿童进行最佳护理。
