Abstract
The molecular landscape of numerous human malignancies has been elucidated since the advances in sequencing techniques. However, unlike their cutaneous counterparts, which have a higher incidence and more affected patients as study subjects, conjunctival melanocytic neoplasms are less studied, with evidence mainly restricted to case reports or case series. This review aims to summarize and update findings on genetic alterations in conjunctival melanocytic lesions based on the diagnoses listed in the fifth edition of the World Health Organization classification of the tumors of the eye. These include conjunctival common nevus, conjunctival blue nevus, conjunctival WNT-activated deep penetrating/plexiform melanocytoma (nevus), conjunctival melanocytic intraepithelial lesions, and conjunctival melanoma. We also review the role of genetic alterations in the development and progression of conjunctival melanoma. Furthermore, we compare the genetic alterations of conjunctival melanoma with those of cutaneous melanoma and discuss specific targeted therapies such as BRAF inhibitors, MEK inhibitors, and immunotherapies for localized advanced or metastatic conjunctival melanoma. In conclusion, this article reviews recent advances in genetic alterations and associated treatment strategies for conjunctival melanocytic lesions, including benign, premalignant, and malignant diseases. The similarities between conjunctival and cutaneous melanoma may shed a light on future studies and clinical trials focused on conjunctival melanoma.