Recent advancements in the management of retinoblastoma and uveal melanoma

Abstract

Retinoblastoma and uveal melanoma are the most common intraocular malignancies observed in pediatric and adult populations, respectively. For retinoblastoma, intra-arterial chemotherapy has dramatically improved treatment outcomes and eye salvage rates compared with traditional salvage rates of systemic chemotherapy and external beam radiation therapy. Intravitreal injections of chemotherapy have also demonstrated excellent efficacy for vitreous seeds. Uveal melanoma, on the other hand, is treated predominantly with iodine-125 plaque brachytherapy or with proton beam therapy. Major strides in uveal melanoma genomics have been made since the early 2000s, allowing ocular oncologists to better understand the metastatic risks of the tumor on the basis of specific genetic signatures. Loss-of-function mutations of the BAP1 gene are associated with the highest metastatic risk, whereas gain-of-function mutations of SF3B1 and EIF1AX often confer a better prognosis. Expression of a cancer-testis antigen called PRAME (preferentially expressed antigen in melanoma) has been shown to increase metastatic risks in both low-risk and high-risk melanomas. New therapeutic approaches, including molecular therapies and nanoparticle phototherapy, are currently being investigated as alternative treatment modalities for uveal melanoma.

Keywords: ocular tumors; retinoblastoma; uveal melanoma.

Figure 1.. Retinoblastoma of a 5-month-old patient before and after intra-arterial chemotherapy (IAC).

( a) Fundus photograph of the right eye before IAC, demonstrating macular and inferonasal lesions. ( b) Fundus photograph of the same eye 13 months after the initial IAC treatment. The patient underwent three IAC cycles and adjuvant therapy, including five sessions of laser ablation and two sessions of cryotherapy.

Figure 2.. Uveal melanoma of a 66-year-old patient before and after plaque brachytherapy.

( a) B-scan ultrasound image of the right eye before the plaque implantation. ( b) B-scan ultrasound image of the same eye intraoperatively, demonstrating full coverage of the tumor with the plaque. ( c) B-scan ultrasound image of the same eye 3 years after the plaque therapy, demonstrating regression of the tumor.