Age distribution of retinoblastoma tumours in familial disease.

BACKGROUND

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.

METHOD

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).

RESULTS

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.

CONCLUSION

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.