Advances in Uveal Melanoma: From Molecular Pathogenesis to Precision Diagnostics and Personalized Therapies: Narrative Overview
Novel therapeutic approaches such as tebentafusp (a T-cell receptor therapy), oncolytic viruses, chimeric antigen receptor (CAR) T-cell therapy, suicide gene constructs, and RNA interference show promise in clinical and preclinical settings.
Objective: This review aims to summarize recent progress in the molecular understanding, diagnostic strategies, and treatment innovations in uveal melanoma (UM), the most common primary intraocular malignancy in adults. Emphasis is placed on the integration of precision diagnostics and emerging therapies that may improve clinical outcomes in high-risk cases. Materials and Methods: A narrative literature review was conducted using databases including PubMed, Scopus, Web of Science, and Google Scholar, covering the years 2020 to 2024. Results: Uveal melanoma most frequently arises in the choroid and is genetically distinct from cutaneous melanoma. It is primarily driven by mutations in GNAQ, GNA11, BAP1, EIF1AX, and SF3B1. These mutations activate key signaling pathways such as MAPK and PI3K/AKT, influencing prognosis and therapeutic response. Diagnostic advancements include high‑resolution imaging and liquid biopsy techniques, which enable detection of circulating tumor cells, circulating tumor DNA, and microRNAs. Standard treatments include radiation therapy (plaque brachytherapy) and surgical interventions. Novel therapeutic approaches such as tebentafusp, oncolytic viruses, CAR T‑cell therapy, suicide gene constructs, and RNA interference show promise in clinical and preclinical settings. Conclusion: A precision medicine approach that integrates molecular diagnostics, AI‑enhanced liquid biopsy, and novel systemic therapies is transforming the management of uveal melanoma.
This review highlights how integrating molecular diagnostics with emerging therapies can improve risk stratification, earlier detection, and targeted treatment for uveal melanoma patients, potentially enhancing survival and vision preservation.
Bizonyítékszint: Klinikai vizsgálat. Formális klinikai vizsgálati eredmény.
Kapcsolódó jelek
- Beyond the Five-Year Milestone: Long‑term Survivorship of Melanoma Patients Treated Off‑Trial with anti‑PD‑1
- Uveal Melanoma – Trials in Disease – Overview of Information and Clinical Research
- A phase 1/2 trial of an immune-modulatory vaccine against IDO/PD-L1 in combination with nivolumab in metastatic melanoma
- Melanoma Research
- The Clinical Trial Landscape for Melanoma Therapies