Whole exome sequencing of sequential, ipsilateral HPV-positive conjunctival, and lacrimal sac squamous cell...

A 71-year-old Caucasian female with a history of a right conjunctival intraepithelial neoplasia (CIN) presented with an expanding right lacrimal sac mass. Pathology from the lacrimal sac biopsy revealed invasive, moderately differentiated, non-keratinizing squamous cell carcinoma (SCC) that stained positive for p63 and p40 and negatively for CEA. The conjunctival and lacrimal sac masses were noncontiguous and found to be HPV-positive SCCs after definitive surgery. Whole exome sequencing demonstrated distinct, shared deletions and gains in both tumors, with the lacrimal sac SCC having more genetic mutations than the conjunctival tumor, suggesting that the lacrimal sac SCC evolved from the conjunctival SCC. The pathology and sequencing data show a shared genetic and histopathologic heritage between the conjunctival and lacrimal sac SCCs, suggesting the potential for conjunctival tumor cells to spread to the lacrimal sac in a non-contiguous manner.