BAP1 Germline Mutation Associated with Bilateral Primary Uveal Melanoma

Area of Science:

• Ophthalmology
• Oncology
• Genetics

Background:

• Bilateral primary uveal melanoma is an exceptionally rare condition.
• The BRCA1-associated protein 1 (BAP1) gene is implicated in various cancers, including uveal melanoma.

Observation:

• This study reviewed two patients diagnosed with bilateral primary uveal melanoma.
• Both patients were found to have a germline mutation in the BAP1 gene.
• Neither patient exhibited oculodermal melanocytosis.

Findings:

• Patient 1 developed choroidal melanomas in both eyes, with a confirmed pathogenic BAP1 germline mutation and a family history of cancer.
• Patient 2 presented with iris melanoma in one eye and ciliary body melanoma in the other, also testing positive for a pathogenic BAP1 germline mutation.
• Both patients received treatment for their ocular melanomas, with varying outcomes and follow-up periods.

Implications:

• The findings suggest a potential link between BAP1 mutations and the development of bilateral uveal melanoma.
• Genetic screening for BAP1 mutations should be considered in individuals with bilateral uveal melanoma, particularly those with a personal or family history of cancer.
• Lifelong surveillance for systemic malignancies is advised for patients with BAP1-associated uveal melanoma.