ABSTRACT
BACKGROUND/AIM: Uveal melanoma is the most common primary adult intraocular malignancy. It is known to have a strong metastatic potential, fatal for the vast majority of patients. In recent years, meticulous cytogenetic and molecular profiling has led to precise prognostication, that unfortunately is not matched by advancements in adjuvant therapies. G Protein subunits alpha Q (GNAQ) and alpha 11 (GNA11) are two of the major driver genes that contribute to the development of uveal melanoma. Understanding their prognostic significance can allow tailored management and facilitate their use in the on-going quest of targeted uveal melanoma therapies. MATERIALS AND METHODS: Formalin-fixed, paraffin-embedded specimens were obtained from 47 patients of Greek origin, with uveal melanoma. GNAQ and GNA11 genes were screened for mutations in exons 4 and 5, by polymerase chain reaction and Sanger sequencing. RESULTS: The overall mutation frequency of GNAQ/GNA11 genes was 42.4%. A novel mutation c.625_626delinsGC was identified in GNA11. No correlation was observed between the mutation status and metastasis occurrence or overall survival time of patients. CONCLUSION: Mutations in GNAQ and GNA11 genes in this Greek population present frequencies that qualify them as potential targets for customized therapy.
Subject(s)
Biomarkers, Tumor/genetics , GTP-Binding Protein alpha Subunits, Gq-G11/genetics , GTP-Binding Protein alpha Subunits/genetics , Mutation , Uveal Neoplasms/genetics , Adult , Aged , Aged, 80 and over , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Greece , Humans , Kaplan-Meier Estimate , Male , Middle Aged , Mutation Rate , Phenotype , Prognosis , Risk Factors , Time Factors , Uveal Neoplasms/mortality , Uveal Neoplasms/pathology , Uveal Neoplasms/therapyABSTRACT
Until the early 20thcentury enucleation of the eyeball or its partial excision were the basic treatments for ocular cancer. The discovery of X-rays by Wilhelm Conrad Röntgen (1845-1923) offered new possibilities to the treatment of ocular cancer either as mono or as adjuvant therapy. Nowdays this treatment is more sophisticated.
Subject(s)
Eye Neoplasms/history , Eye Neoplasms/radiotherapy , Radiation Oncology/history , X-Ray Therapy/history , X-Ray Therapy/instrumentation , History, 20th Century , History, 21st Century , Humans , X-RaysABSTRACT
INTRODUCTION: The aim of the article was to report on the long-term follow-up of choroidal neovascularization (CNV) cases secondary to punctate inner choroidopathy (PIC) either treated with photodynamic therapy (PDT) or followed without treatment. A comprehensive review of existing literature on the various treatment modalities is incorporated. METHODS: Nine eyes of 8 female patients with CNV due to PIC were followed retrospectively for an average of 105 months (range, 36-162 months). Mean age of the patient cohort on presentation was 28 years (range, 21-39). Four eyes were treated with PDT, whereas in 4 patients, including 1 with bilateral involvement, the disease followed its natural course without treatment. Snellen visual acuity and the extent of neovascularization and subretinal fibrosis were evaluated on presentation and at the end of the follow-up period. RESULTS: Improvement of vision was observed in 6 eyes (66.7%), including all cases treated with PDT, and in 2 of 5 eyes left untreated. The size of the neovascular lesion, including both CNV and subretinal fibrosis, increased in all cases left untreated (55.6%) and remained stable in all cases treated with PDT (44.4%). CONCLUSION: Without treatment, the CNV due to PIC is slowly progressive. Our short cohort appears to have benefited from PDT in terms of maintaining visual acuity and stabilizing the extent of CNV and fibrosis.
