Gene Expression Profile Class Change in a Case of Aggressive, Recurrent Melanoma

Area of Science:

• Ophthalmology
• Oncology
• Genetics

Background:

• Uveal melanoma is the most common primary intraocular cancer in adults.
• Genetic expression profile (GEP) testing aids in risk stratification for uveal melanoma.
• Class 1A tumors generally have a low risk of metastasis, while Class 1B tumors have an intermediate risk.

Observation:

• A patient with a large uveal melanoma initially tested as GEP class 1A after brachytherapy.
• Over a 2-year period, the recurrent tumor enlarged and was enucleated.
• Post-enucleation GEP testing revealed the tumor had changed to class 1B.

Findings:

• This is the first reported case of a recurrent uveal melanoma changing GEP class from 1A to 1B.
• The observed GEP class shift suggests potential tumor evolution and increased aggressiveness over time.

Implications:

• Tumor GEP class may not be static and can change during the course of recurrent uveal melanoma.
• A GEP class change might signify an accumulation of mutations, potentially increasing the risk of metastasis.
• Further research is warranted to understand the natural course of GEP class changes in uveal melanoma.