附件肿瘤的遗传学：更新。

Genetics of adnexal tumors: An update.

机构信息

CARADERM Network, Lille, France; Department of Pathology, University Hospital Center of Tours, Tours, France.

CARADERM Network, Lille, France; Department of Pathology, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, AP-HP Centre - University of Paris Cité, Paris, France; Faculty of Medicine, University of Paris Cité, Paris, France.

出版信息

Ann Dermatol Venereol. 2023 Sep;150(3):202-207. doi: 10.1016/j.annder.2023.03.003. Epub 2023 Jun 1.

DOI:10.1016/j.annder.2023.03.003

PMID:37270318

Abstract

Cutaneous adnexal tumors form a vast heterogeneous group that include frequent entities that are mostly benign, as well as rare tumors that are occasionally malignant. In contrast to cutaneous tumors arising from the interfollicular epidermis that develop as a result of accumulation of UV-induced DNA damage (basal cell carcinoma, squamous cell carcinoma), the oncogenesis of adnexal tumors is related to a broad spectrum of genetic mechanisms (e.g., point mutation, fusion genes, viral integration, etc.). In this setting, specific and recurrent genetic alterations have been progressively reported, and these allow better classification of these entities. For certain of them, immunohistochemical tools are now available, enabling precise integrated histological and molecular diagnosis since certain entities are linked to well-defined alterations. In this context, we aim in this review to summarize the main molecular tools currently available for the classification of adnexal tumors.

摘要

皮肤附属器肿瘤形成了一个庞大的异质群体，其中包括大多数良性的常见实体，以及偶尔恶性的罕见肿瘤。与因积累紫外线诱导的 DNA 损伤而发生的由滤泡间表皮产生的皮肤肿瘤（基底细胞癌、鳞状细胞癌）不同，附属器肿瘤的发生与广泛的遗传机制有关（例如点突变、融合基因、病毒整合等）。在这种情况下，已经逐步报道了特定和反复出现的遗传改变，这使得这些实体的分类更好。对于其中某些实体，现在已经有了免疫组织化学工具，由于某些实体与明确的改变相关，因此可以实现精确的综合组织学和分子诊断。在这种情况下，我们旨在这篇综述中总结目前用于附属器肿瘤分类的主要分子工具。