Molecular Pathology is based on the use of molecular biology techniques and the type of specimens that are involved in its practice, basically through extracted DNA and RNA from cytological and tissue specimens. Recent revolutionary progress in human genomics is affecting our daily practice in terms of diagnosis and approach for treatment. Nucleic acid–based testing is becoming an essential diagnostic tool specifically in the setting of inherited genetic disease, neoplastic and infectious diseases. The second peculiar aspect is the guidance of appropriate therapy aiming at the use of newly tailored therapeutic targets or drugs such as gene therapy. In addition, molecular diagnostics are of paramount importance in assessing disease prognosis, response to treatment and detecting minimal residual disease. In this review article, the author will focus on the latest updated molecular pathology studies on ocular surface tumors trying to shed the light on recent advances related to 2 major ocular surface tumors: ocular squamous surface neoplasia (OSSN) and conjunctival melanoma (CM). Sebaceous carcinoma (SC) is another challenging diagnosis, which is usually discussed in the context of eyelid tumors, but since SC has an affinity for pagetoid spread into the conjunctival epithelium, it is included in this review. The aim of this review is to attract the attention of ophthalmologists, scientists, and laboratory researchers to the necessity for advancement of these molecular techniques in our local laboratories, thus significantly enhancing the diagnostic and research skills in molecular diagnostics and therapy in the field of ophthalmology.

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