Sequential Bilateral Choroidal Malignant Melanoma With Unique BAP1 Positivity Managed With Iodine-125 Plaque...

Area of Science:

• Ophthalmology
• Oncology
• Genetics

Background:

• Uveal melanomas are typically unilateral, with bilateral presentation occurring in approximately 1 in 80 million individuals annually.
• The occurrence of bilateral uveal melanoma raises questions about underlying genetic predispositions and management strategies.

Purpose of the Study:

• To report a rare case of sequential bilateral choroidal melanoma in a single patient.
• To highlight the role of genetic mutations, specifically BAP1, in the development of bilateral uveal melanoma.
• To describe the treatment and outcomes of bilateral choroidal melanoma managed with iodine-125 brachytherapy.

Main Methods:

• Case report of a 40-year-old male patient diagnosed with sequential bilateral choroidal melanoma.
• Management involved iodine-125 (I125) plaque brachytherapy for both ocular tumors.
• Genetic testing for BAP1 germline mutation was performed.

Main Results:

• The patient presented with sequential development of choroidal melanoma in both eyes.
• Both tumors were treated with I125 plaque brachytherapy and showed regression after three years.
• The patient was found to have a BAP1 germline mutation (c.659+1G >A p.?; rs2153227622).
• The patient was undergoing immunotherapy for liver metastasis.

Conclusions:

• Sequential bilateral choroidal melanoma, though rare, can occur and may be associated with BAP1 germline mutations.
• Iodine-125 brachytherapy is an effective treatment modality for bilateral choroidal melanoma.
• Long-term follow-up is crucial for monitoring treatment response and potential metastasis.