Update on Molecular Genetic Alterations of Cutaneous Adnexal Neoplasms

Grace Hile; Paul W Harms

doi:10.1016/j.path.2021.03.004

Update on Molecular Genetic Alterations of Cutaneous Adnexal Neoplasms

Surg Pathol Clin. 2021 Jun;14(2):251-272. doi: 10.1016/j.path.2021.03.004.

Authors

Grace Hile¹, Paul W Harms²

Affiliations

¹ Department of Dermatology, University of Michigan, 1910 Taubman Center, 1500 East Medical Center Drive, Ann Arbor, MI 48109-5314, USA.
² Department of Dermatology, University of Michigan, 1910 Taubman Center, 1500 East Medical Center Drive, Ann Arbor, MI 48109-5314, USA; Department of Pathology, University of Michigan, 2800 Plymouth Road, Building 35, Ann Arbor, MI 48109 - 2800, USA. Electronic address: paulharm@med.umich.edu.

PMID: 34023104
DOI: 10.1016/j.path.2021.03.004

Abstract

Cutaneous adnexal tumors recapitulate follicular, sweat gland, and/or sebaceous epithelia, and range from benign tumors to aggressive carcinomas. Adnexal tumors can be hallmarks for inherited tumor syndromes. Oncogenic drivers of adnexal neoplasms modulate intracellular pathways including mitogen-activated protein kinase, phosphoinositide-3-kinase, Wnt/β-catenin, Hedgehog, nuclear factor κB, and Hippo intracellular signaling pathways, representing potential therapeutic targets. Malignant progression can be associated with tumor suppressor loss, especially TP53. Molecular alterations drive expression of specific diagnostic markers, such as CDX2 and LEF1 in pilomatricomas/pilomatrical carcinomas, and NUT in poromas/porocarcinomas. In these ways, improved understanding of molecular alterations promises to advance diagnostic, prognostic, and therapeutic possibilities for adnexal tumors.

Keywords: Cutaneous adnexal neoplasms; Genetics; Hair follicle; Mutation; Oncogene; Sweat gland; Tumor suppressor.

Publication types

Review

MeSH terms

Carcinoma, Skin Appendage* / genetics
Humans
Molecular Biology
Neoplasms, Adnexal and Skin Appendage* / genetics
Skin Neoplasms* / genetics