Melanoma is a life-threatening malignancy that may involve different organs such as the skin and the eye. The primary intraocular form is called uveal melanoma. Its etiology, mutation profile, and clinical behavior are distinct from that of cutaneous melanoma. In most cases, the malignancy originates from the choroid. Usually at the time of detection, no metastatic disease is found. Therapy is therefore focused on the primary tumor and depends on different factors such as the size and location of the malignancy and other individual factors like patient age and visual acuity of the fellow eye. Since vision loss and even loss of the eye may be the consequences of therapy, diagnosis needs a strong base. The primary tumor is effectively controlled in most cases. Metastatic disease, however, will develop in about half of the patients many years thereafter. Many steps regarding evolution, dissemination, and metastatic disease are still unknown. Several prognostic factors are used to evaluate the risk for metastatic disease. Survival of patients with metastasis is less than 1 year. As of now, there is neither a therapy that bears sufficient evidence for a prophylactic effect nor a therapy that can reduce the mortality rate. Recent understanding of the biology, the initiating mutations in the G-alpha subunits GNAQ and GNA11, the alterations of chromosomes 3 and 8, the mutation of the tumor suppressor gene BAP1 and the splicing factor SF3B1, as well as the role of the tumor-immune privilege may aid in the development of efficacious adjuvant therapies.
The Authors.