Recent advancements in the management of retinoblastoma and uveal melanoma

Abstract

Retinoblastoma in children and uveal melanoma in adults can pose a serious threat to both vision and life. For many decades, enucleation was often the only option to treat these intraocular malignancies. For retinoblastoma, intra-arterial chemotherapy is often utilized as the primary treatment at advanced academic centers and has dramatically improved local tumor control and eye salvage rates. For uveal melanoma, both plaque brachytherapy and proton beam irradiation have served as widely utilized therapies with a local failure rate of approximately 1–10%, depending on the series. Major recent advancements have allowed for a better understanding of the genomics of uveal melanoma and the impact of certain mutations on metastatic susceptibility. Gene expression profile stratifies uveal melanomas into two classes: low-risk (class 1) and high-risk (class 2). A loss-of-function mutation of BAP1 is associated with a class 2 gene expression profile and therefore confers worse prognosis due to elevated risk of metastasis. On the other hand, gain-of-function mutations of EIF1AX and SF3B1 correspond to a gene expression profile of class 1A and class 1B and confer a better prognosis. Preferentially expressed antigen in melanoma (PRAME) is an antigen that increases metastatic susceptibility when expressed in uveal melanoma cells. In addition to plaque brachytherapy and proton beam irradiation, both of which have demonstrated superb clinical outcomes, scientists are actively investigating newer therapeutic modalities as either primary therapy or adjuvant treatment, including a novel nanoparticle therapy and immunotherapy.

Sex Differences in the Treatment of Uveal Melanoma in a Group of 1336 Patients

“…In summary, the introduction of globe-sparing therapies in recent years did not decrease the overall survival rate in patients with uveal melanoma [ 25 , 28 , 29 ]. However, in our study group, tumors were located more anteriorly in women (these tumors are generally enucleated more often), and the number of enucleations in women was statistically significantly lower than in men, probably due to possible fears of cometic defects.…”

Preferentially Expressed Antigen in Melanoma (PRAME) and Human Malignant Melanoma: A Retrospective Study

“…Since its first description back in 1997 by Ideka et al [ 13 ], PRAME has been of interest both as a possible diagnostic parameter and as a target for possible immunotherapy. Since then, various studies have tried to shed light on the real potential use of this marker, and in recent years the aspect relating to immunoexpression has been particularly studied in the context of differential histopathological diagnostics of MM [ 25 , 26 , 27 ]. Recent works by Lezcano C. et al [ 25 , 26 , 28 ] have clarified some important aspects relating to the role of PRAME as a diagnostic aid.…”

Research Progress of Bioinspired Nanostructured Systems for the Treatment of Ocular Disorders

“…Uveal melanoma (UM) and retinoblastoma (Rb), which are threat to both vision and patient life, are the most common malignant intraocular tumors in adults and children, respectively [ 110 ]. For UM, radiotherapy and surgery has been the current first-line cancer treatment.…”