1. Synchronous Epidermodysplasia Verruciformis and Intraepithelial Lesion of the Vulva Is Caused by Coinfection With Alpha-Human Papillomavirus and Beta-Human Papillomavirus Genotypes and Facilitated by Mutations in Cell-Mediated Immunity Genes.
- Author
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Ribeiro E Ribeiro R, Sung CJ, and Quddus MR
- Subjects
- Humans, Female, Retrospective Studies, Adult, Vulvar Neoplasms virology, Vulvar Neoplasms genetics, Vulvar Neoplasms pathology, Middle Aged, Betapapillomavirus genetics, Vulva pathology, Vulva virology, Squamous Intraepithelial Lesions virology, Squamous Intraepithelial Lesions pathology, Squamous Intraepithelial Lesions genetics, Human Papillomavirus Viruses, Epidermodysplasia Verruciformis genetics, Epidermodysplasia Verruciformis virology, Epidermodysplasia Verruciformis pathology, Papillomavirus Infections virology, Papillomavirus Infections genetics, Papillomavirus Infections complications, Papillomavirus Infections pathology, Mutation, Alphapapillomavirus genetics, Genotype, Coinfection virology, Coinfection genetics, Coinfection pathology
- Abstract
Context.—: There have been exceedingly few reports of epidermodysplasia verruciformis (EV) or EV-like lesions in the vulva. We describe the first observation of vulvar lesions displaying synchronous EV-like histology and conventional high-grade squamous intraepithelial lesion (HSIL), a finding hitherto unreported in medical literature., Objectives.—: To describe this novel vulvar lesion with hybrid features of HSIL and EV, attempt to confirm the hypothesis of coinfection with α and β human papillomavirus (α-HPV and β-HPV) genotypes, and describe relevant underlying genetic mutations., Design.—: Cases were retrospectively selected from our institutional archive. Detailed review of clinical information, histologic examination, and whole genome sequencing (WGS) were performed., Results.—: Five samples from 4 different patients were included. Three of 4 patients had a history of either iatrogenic immune suppression or prior immune deficiency, and all 3 featured classic HSIL and EV changes within the same lesion. One patient had no history of immune disorders, presented with EV-like changes and multinucleated atypia of the vulva, and was the sole patient without conventional HSIL. By WGS, several uniquely mappable reads pointed toward infection with multiple HPV genotypes, including both α-HPVs and β-HPVs. Mutations in genes implicated in cell-mediated immunity, such as DOCK8, CARMIL2, MST1, and others, were also found., Conclusions.—: We provide the first description of vulvar lesions harboring simultaneous HSIL and EV features in the English-language literature, a phenomenon explained by coinfection with α-HPV and β-HPV genotypes. The finding of EV-like changes in a vulvar specimen should prompt assessment of the patient's immune status., Competing Interests: The authors have no relevant financial interest in the products or companies described in this article., (© 2024 College of American Pathologists.)
- Published
- 2024
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