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.