Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings

• Published in: Ophthalmic genetics 2020-11, Vol.41 (6), p.616-620
• Main Authors: McGrath, Lindsay A, Palmer, Jane M, Stark, Andrew, Glasson, William, Warrier, Sunil K, Whitehead, Kevin, Hamilton, Hayley, Brooks, Kelly, Johansson, Peter A, Hayward, Nicholas K
• Format: Article
• Language: English
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2020.1810281

INTRODUCTIONConjunctival nevi are the most common tumor of the ocular surface. There are some rare reports of so-called 'giant' conjunctival nevi. We report a case of a 47-year-old female with a cutaneous and ocular surface giant congenital melanocytic nevus and describe her clinical course. CASE DESCRIPTIONThis is a retrospective case report of a single patient. A 47-year-old female with a history of biopsy-proven periorbital congenital melanocytic nevus, with an associated giant conjunctival nevus presented for structural and functional rehabilitation. Serial surgeries were performed and excised tissue was sent for histopathological and genetic examination. The conjunctival nevus had a low tumor mutation burden, and of the 647 somatic mutations, only one occurred within a protein coding region, namely NRAS p.Gln61Arg. CONCLUSIONThis is the first reported adult case including genomic analysis of an ocular surface giant congenital melanocytic nevus. The case shows a possible association between periorbital congenital melanocytic nevi and giant conjunctival nevi, and underscores the possible role that targeted drug therapies may have in malignant transformation of these conditions.