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

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.

http://bjo.bmj.com/cgi/content/short/108/1/131?rss=1

Source: British Journal of Ophthalmology - December 18, 2023 Category: Opthalmology Authors: Dockery, P. W., Ruben, M., Duffner, E. R., Levin, H. J., Lally, S. E., Shields, J. A., Shields, C. L. Tags: Oncology Source Type: research