Walker Jessica Katie, Nair Devika, Mongan Ann-Marie, Parulekar Manoj, Cole Trevor, Abbott Joseph
Birmingham Children's Hospital, Birmingham, UK.
Ophthalmology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK.
Eye (Lond). 2025 Apr;39(6):1093-1098. doi: 10.1038/s41433-024-03499-y. Epub 2024 Dec 11.
40% of children with retinoblastoma have an RB1 gene mutation identified, known as heritable retinoblastoma. It is important to undertake active surveillance (screening) of relatives of those with identified RB1 gene mutations and ensure ongoing surveillance to monitor for new tumour formation or recurrences. Current guidance is to screen patients up to the age of 7 years old. With advancements in treatment methods and survival rates of retinoblastoma being 98%, it has become increasingly important to plan a surveillance programme that is both safe and cost effective. van Hoefen Wijsard et al. proposed that surveillance could be concluded at the age of 4 years.
We conducted a retrospective analysis of all patients with familial retinoblastoma known to our service presenting from 1995 to 2020. 52 patients were eligible for analysis. 47 out of 50 had more than 4 years of follow up (median 129 months).
In this cohort, the oldest age for new tumour occurrence was 47 months; if patients were screened from an appropriate age according to protocol, the latest age for new tumour occurrence was 28 months. Furthermore, the average age for tumour recurrence was 15 months; the oldest patient with an identified tumour recurrence was 56 months old.
This supports the notion that it may be safe to reduce the length of surveillance for new tumours in familial retinoblastoma from 7 years of age.
40%的视网膜母细胞瘤患儿存在RB1基因突变，即遗传性视网膜母细胞瘤。对已确定存在RB1基因突变者的亲属进行积极监测（筛查）并确保持续监测以监测新肿瘤形成或复发非常重要。目前的指导意见是对7岁以下患者进行筛查。随着视网膜母细胞瘤治疗方法的进步和生存率达到98%，制定一个既安全又具成本效益的监测计划变得越来越重要。范霍芬·维斯德等人提出监测可在4岁时结束。
我们对1995年至2020年在我们科室就诊的所有家族性视网膜母细胞瘤患者进行了回顾性分析。52例患者符合分析条件。50例中有47例进行了超过4年的随访（中位随访时间129个月）。
在该队列中，新肿瘤发生的最大年龄为47个月；如果按照方案从适当年龄开始对患者进行筛查，新肿瘤发生的最晚年龄为28个月。此外，肿瘤复发的平均年龄为15个月；已确定肿瘤复发的最年长患者为56个月大。
这支持了将家族性视网膜母细胞瘤新肿瘤监测时长从7岁缩短可能是安全的这一观点。
