A 2-year-old female with an unremarkable past medical history presented with pain and swelling of the left eye. One examination she was able to fix and follow with both eyes but had a dull red reflex of the left eye as well as a retinal mass. An exam under anesthesia was performed which revealed a large white mass occupying the majority of the vitreous cavity. B scan ultrasonography revealed a large, hyperechoic, poorly defined mass with focal hyperechoic areas indicative of intralesional calcification consistent with Retinoblastoma. There was also concern for choroidal invasion on the B scan ultrasound. Given the size of the tumor and concern for choroidal invasion, the left eye was enucleated. The pathology revealed a large tumor with basophilic cells and pseudorosette formation. The tumor displayed endophytic as well as exophytic growth. There was massive choroidal invasion (>3mm) as well as invasion of tumor past the lamina cribrosa (~0.2mm). There was no evidence of tumor at the transected end of the optic nerve. Based on the results of the COG ARET0332 study this patient has high risk features and thus will receive adjuvant systemic chemotherapy with vincristine, etoposide and carboplatin.
Presentation Date: 09/17/2020
Issue Date: 02/12/2021