Likelihood of germline mutation with solitary retinoblastoma based on tumour location at presentation.

Autor:	Dockery PW; Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA., Ruben M; Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA., Duffner ER; Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA., Levin HJ; Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA., Lally SE; Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA., Shields JA; Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA., Shields CL; Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA carolshields@gmail.com.
Jazyk:	angličtina
Zdroj:	The British journal of ophthalmology [Br J Ophthalmol] 2023 Dec 18; Vol. 108 (1), pp. 131-136. Date of Electronic Publication: 2023 Dec 18.
DOI:	10.1136/bjo-2022-321757
Abstrakt:	Background/aims: To evaluate the likelihood of germline mutation in patients presenting with solitary retinoblastoma based on tumour location at first examination. Methods: Retrospective analysis of solitary unilateral retinoblastoma for likelihood of germline mutation (family history of retinoblastoma and/or genetic testing indicating germline RB1 mutation and/or development of additional new or bilateral tumours) based on tumur location at presentation (macular vs extramacular). Results: Of 480 consecutive patients with solitary retinoblastoma, 85 were in the macula (18%) and 395 were extramacular (82%). By comparison (macular vs extramacular tumours), macular tumours had smaller basal diameter (12.7 mm vs 18.9 mm, p < 0.001) and smaller tumour thickness (6.1 mm vs 10.7 mm, p < 0.001). Patients with macular tumours demonstrated greater likelihood for germline mutation (23% vs 12%, OR=2.18, p = 0.011), specifically based on family history of retinoblastoma (13% vs 2%, OR=4.64, p = 0.004), genetic testing showing germline RB1 mutation (27% vs 15%, OR=2.04 (95% CI 1.04 to 4.01), p = 0.039), development of new tumours (13% vs 3%, OR=5.16 (95% CI 2.06 to 12.87), p = 0.001) and/or development of bilateral disease (9% vs 2%, OR=4.98 (95% CI 1.70 to 14.65), p = 0.004). Conclusions: Among patients with solitary unilateral retinoblastoma, those presenting with macular tumour (compared with extramacular tumour) show 2.18 times greater likelihood for germline mutation and an even higher likelihood of development of subsequent tumours. Solitary macular retinoblastoma should raise an index of suspicion for likely germline mutation and multifocal disease. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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