Molecular Genetics of Sebaceous Neoplasia

Jeffrey P North

doi:10.1016/j.path.2021.03.005

Molecular Genetics of Sebaceous Neoplasia

Surg Pathol Clin. 2021 Jun;14(2):273-284. doi: 10.1016/j.path.2021.03.005.

Author

Jeffrey P North¹

Affiliation

¹ Dermatopathology, Department of Dermatology, University of California San Francisco, School of Medicine, 1701 Divisadero Street, Room 280, San Francisco, CA 94115, USA; Department of Pathology, University of California San Francisco, School of Medicine, 1701 Divisadero Street, Room 280, San Francisco, CA 94115, USA. Electronic address: Jeffrey.north@ucsf.edu.

PMID: 34023105
DOI: 10.1016/j.path.2021.03.005

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.

Publication types

Review

MeSH terms

Adenocarcinoma, Sebaceous* / genetics
DNA Mismatch Repair
Humans
Molecular Biology
Muir-Torre Syndrome* / diagnosis
Muir-Torre Syndrome* / genetics
Sebaceous Gland Neoplasms* / genetics
Transcription Factors
Tumor Suppressor Proteins

Substances

Transcription Factors
Tumor Suppressor Proteins
ZNF750 protein, human