结膜黑色素瘤：临床特征、基因改变及现代治疗方法的综合见解

Conjunctival melanoma (CoM) is a rare and aggressive ocular surface malignancy, characterised by increasing incidence, clinical complexity, and substantial challenges in diagnosis and treatment. This review consolidates current knowledge on epidemiology, clinical presentation, genetic and epigenetic foundations, molecular mechanisms, emerging therapeutic strategies, and prognostic factors for localised and metastatic CoM. CoM exhibits distinct biological behaviours, sharing molecular traits with cutaneous and mucosal melanomas, while significantly diverging from uveal melanoma. Key genetic alterations include mutations in BRAF, NF1, and PTEN, elevated mTOR expression, and specific miRNA profiles, which influence tumour progression and response to therapy.

Recent advances in treatment, especially immune checkpoint inhibitors such as CTLA-4 and PD-1 receptor inhibitors, along with targeted therapies like BRAF and MEK inhibitors, have led to marked improvements in outcomes for advanced cases. Emerging strategies, including dendritic cell vaccines and epigenetic therapies, hold considerable promise in addressing ongoing clinical challenges.

This review integrates case studies and clinical research to demonstrate the practical application of these therapies, highlighting their efficacy and limitations. Combining clinical expertise, genetic insights, and the latest therapeutic developments, offers a comprehensive overview of CoM, underscoring the critical role of a multidisciplinary approach in optimising diagnosis, management, and prognosis to improve patient outcomes.