Introduction:
Retinoblastoma is the most common pediatric intraocular malignancy, with an incidence of 1 per 15,000–20,000 live births [1]. Retinoblastoma is highly curable with survival rates exceeding 95% utilizing therapies including systemic chemotherapy, intra-arterial chemotherapy, and local therapies (e.g. focal laser), and in advanced cases, eye enucleation [1,2]. High-risk features for extra-ocular spread include tumor invasion of the post laminar optic nerve, choroid, anterior segment or sclera with relapses occurring with 30 months from diagnosis and 22-24 months from the time of enucleation [1,3, 4].
We report the case of a patient with bilateral retinoblastoma diagnosed at the age of two months, who suffered a widespread extraocular relapse 8 years following initial systemic chemotherapy and local therapy. Despite a dramatic response to his first cycle of retrieval chemotherapy, he ultimately succumbed to refractory CNS disease. Targeted exome sequencing of tissue from his original tumor and relapse tumor, revealed somatic mutations which may add to the understanding of tumor dormancy.