Abstract
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.
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Fig. 1: Graphic showing age distribution of tumour occurrence.
Fig. 2
Data availability
The authors confirm that the data supporting the findings of this study are available within the article [and/or] its supplementary materials.
References
Rusakevich AM, Schefler AC. Retinoblastoma: Recent Trends in Diagnosis and Management. Curr Surg Rep. 2022;10:51–6.
ArticleGoogle Scholar
Dimaras H, Corson TW, Cobrinik D, White A, Zhao J, Munier FL, et al. Retinoblastoma. Nat Rev Dis Prim. 2015;1:15021.
ArticlePubMedGoogle Scholar
Al-Nawaiseh I, Ghanem AQ, Yousef YA. Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome. J Ophthalmol. 2017;2017:5053961.
PubMedPubMed CentralGoogle Scholar
Yousef YA, Alkhoms A, AlJabari R, AlJboor M, Mohammad M, Lahlouh M, et al. Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk children. Ophthalmic Genet. 2020;41:308–14.
ArticlePubMedGoogle Scholar
Wong ES, Choy RW, Zhang Y, Chu WK, Chen LJ, Pang CP, et al. Global retinoblastoma survival and globe preservation: a systematic review and meta-analysis of associations with socioeconomic and health-care factors. Lancet Glob Health. 2022;10:e380–e9.
ArticleCASPubMedGoogle Scholar
Skalet AH, Gombos DS, Gallie BL, Kim JW, Shields CL, Marr BP, et al. Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists. Ophthalmology. 2018;125:453–8.
ArticlePubMedGoogle Scholar
van Hoefen Wijsard M, Serné SH, Otten RH, Bosscha MI, Dommering CJ, Fabius AW, et al. At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review. Cancers. 2021;13:1942.
ArticlePubMedPubMed CentralGoogle Scholar
Gerrish A, Bowns B, Mashayamombe-Wolfgarten C, Young E, Court S, Bott J, et al. Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies. J Clin Med. 2020;9:3517.
ArticleCASPubMedPubMed CentralGoogle Scholar
Rojanaporn D, Boontawon T, Chareonsirisuthigul T, Thanapanpanich O, Attaseth T, Saengwimol D, et al. Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand. Mol Vis. 2018;24:778–88.
CASPubMedPubMed CentralGoogle Scholar
Chai P, Luo Y, Yu J, Li Y, Yang J, Zhuang A, et al. Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients. Exp Eye Res. 2021;205:108456.
ArticleCASPubMedGoogle Scholar
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Acknowledgements
Mr Sam Gurney, Dr Amy Gerrish, Dr Helen Jenkinson, Dr Gerard Millen, Dr Monisha Shanmugasundaram, Maria Kirk, Sarah-Jane Staveley, Anu Kumar, Sister Maureen McCalla.
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These authors contributed equally: Jessica Katie Walker, Devika Nair.
Authors and Affiliations
Birmingham Children’s Hospital, Birmingham, UK
Jessica Katie Walker, Devika Nair, Ann-Marie Mongan, Manoj Parulekar, Trevor Cole & Joseph Abbott
Ophthalmology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
Manoj Parulekar
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Jessica Katie Walker
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2. Devika Nair
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3. Ann-Marie Mongan
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4. Manoj Parulekar
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5. Trevor Cole
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6. Joseph Abbott
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Dr Walker, Dr Nair, Dr Mongan collected and analysed data then drafted the paper. Mr Parulekar conceived the idea, edited the paper and Drs Cole and Abbott shared the roles of idea conception, research supervisors, paper editors. All contributed to entitle their place as authors.
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Correspondence to Joseph Abbott.
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Walker, J.K., Nair, D., Mongan, AM. et al. Age distribution of retinoblastoma tumours in familial disease. Eye (2024). https://doi.org/10.1038/s41433-024-03499-y
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Received:18 March 2024
Revised:04 November 2024
Accepted:18 November 2024
Published:11 December 2024
DOI:https://doi.org/10.1038/s41433-024-03499-y
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