Molecular Genetics of Sebaceous Neoplasia

Abstract

Sebaceous neoplasia primarily includes sebaceous adenoma, sebaceoma, and sebaceous carcinoma (SC). Sebaceous adenoma, sebaceoma, and a subset of cutaneous SC are frequently associated with defective DNA mismatch repair resulting from mutations in MLH1, MSH2, or MSH6. These tumors can be sporadic or associated with Muir-Torre syndrome. SCs without defective DNA mismatch repair have ultraviolet signature mutation or paucimutational patterns. Ocular SCs have low mutation burdens and frequent mutations in ZNF750. Some ocular sebaceous carcinomas have TP53 and RB1 mutations similar to cutaneous SC, whereas others lack such mutations and are associated with human papilloma virus infection.

Keywords: Muir-Torre syndrome; Sebaceoma; Sebaceous adenoma; Sebaceous carcinoma; Sebaceous hyperplasia.