Uveal Melanoma in a Child: A Case Report

Area of Science:

• Ophthalmology
• Pediatric Oncology
• Cancer Genetics

Background:

• Uveal melanoma is a rare but aggressive malignancy.
• Pediatric uveal melanoma is exceptionally rare and difficult to distinguish from retinoblastoma.
• Early diagnosis and understanding of pediatric uveal melanoma are crucial.

Observation:

• A 4-year-old male presented with a right eye mass unresponsive to chemotherapy.
• Ophthalmic artery chemotherapy was administered for 18 days without regression.
• Enucleation was performed due to the persistent mass.

Findings:

• Pathological examination revealed a solid black mass, consistent with highly melanized uveal melanoma.
• The tumor infiltrated the cornea and sclera of the right eyeball.
• Whole-exome sequencing did not identify any pathogenic gene variants.

Implications:

• This case underscores the diagnostic challenges of pediatric uveal melanoma.
• The lack of identified pathogenic variants suggests novel genetic mechanisms may be involved.
• Further research into the pathogenesis and molecular genetics of pediatric uveal melanoma is warranted.