皮脂腺肿瘤的分子遗传学。

Molecular Genetics of Sebaceous Neoplasia.

机构信息

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.

出版信息

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

DOI:10.1016/j.path.2021.03.005

PMID:34023105

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.

摘要

皮脂腺肿瘤主要包括皮脂腺腺瘤、皮脂腺瘤和皮脂腺癌（SC）。皮脂腺腺瘤、皮脂腺瘤和一部分皮肤 SC 常与 MLH1、MSH2 或 MSH6 突变导致的 DNA 错配修复缺陷相关。这些肿瘤可以是散发性的，也可以与 Muir-Torre 综合征相关。没有 DNA 错配修复缺陷的 SC 具有紫外线特征性突变或寡突变模式。眼部 SC 的突变负担较低，且经常出现 ZNF750 的突变。一些眼部皮脂腺癌具有与皮肤 SC 相似的 TP53 和 RB1 突变，而其他的则缺乏这些突变，并与人类乳头瘤病毒感染相关。