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Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma
Michelle Prasuhn1, Josephine Christin Freitag1, Sabine Lüken1
1Department of Ophthalmology, University Hospital Schleswig-Holstein, University of Lübeck, Lübeck, Germany.
Abstract:
The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.
Insights
Uveal ring melanoma molecular mechanisms remain unknown. This case report identifies novel GNAQ and SF3B1 mutations in a recurrent uveal melanoma, offering new genetic insights into this ocular tumor.
Area of Science:
- Ophthalmology
- Oncology
- Molecular Genetics
Background:
- Uveal melanoma is the most common primary intraocular malignancy.
- The molecular underpinnings of uveal ring melanoma, a rare variant, are not well understood.
- Understanding genetic mutations is crucial for targeted therapies and improved prognoses.
Observation:
- A patient with malignant uveal melanoma and exudative retinal detachment was treated with plaque brachytherapy.
- A ring-shaped recurrence with extraocular extension developed one year post-treatment, necessitating enucleation.
- Histological analysis confirmed epithelioid-cell-type melanoma involving the ciliary body.
Findings:
- Novel GNAQ and SF3B1 mutations were identified in the recurrent uveal ring melanoma.
- These mutations represent a previously unreported genetic profile for this specific tumor presentation.
- The findings provide new genetic background information on uveal ring melanoma.
Implications:
- The identified mutations may play a role in the pathogenesis and recurrence of uveal ring melanoma.
- This genetic information could potentially inform future diagnostic and therapeutic strategies.
- Further research into these mutations may improve understanding and management of this ocular tumor.
