Genetic, Immunohistochemical and mRNA In Situ Hybridization Profiling of Condyloma with Concurrent Squamous Cell Carcinoma and High-Grade Squamous Intraepithelial Lesion

Mod Pathol. 2026 Jun;39(6):100996. doi: 10.1016/j.modpat.2026.100996. Epub 2026 Apr 3.

Abstract

Condyloma acuminatum is a human papilloma virus (HPV)-associated papillary lesion of the lower anogenital tract. Although a majority are benign, rarely the coexistence of high-grade squamous intraepithelial lesion (HSIL) or invasive squamous cell carcinoma (SCC) with condyloma has been reported, which is important to recognize and diagnose. In this study, we examined the clinicopathologic, immunohistochemical (IHC), and HPV mRNA in situ hybridization (RISH) signal patterns of 63 condylomas, 35 condylomas with concurrent HSIL, 15 condylomas with concurrent SCC, 8 warty HSILs, and 17 warty SCCs. The genetic features of 10 condylomas with concurrent SCC and 14 warty SCCs were also examined. The search included cases in all sites of the lower anogenital tract. HPV-independent lesions were excluded. Our findings show that condylomas with concurrent HSIL or SCC often display different patterns of p16 immunohistochemical (IHC) staining and low-risk and high-risk (HR) HPV RISH-staining patterns depending on the area of the lesion evaluated. Our findings also support previous studies showing that condylomas can harbor both and low-risk and HR-HPV types either alone or in combination. HR-HPV RISH signal patterns were also more varied in condylomas with concurrent HSIL and SCC compared with warty HSIL or warty SCC. Follow-up data revealed that 38% of condylomas recurred and 26% progressed to HSIL. For condylomas with concurrent HSIL, 43% recurred and 9% progressed to SCC. Condylomas with concurrent SCC were associated with mutations in ASXL1, TERT, and CDKN2A/CDKN2B, whereas warty SCC was associated with mutations in PIK3CA, KMT2C, and FAT1.

Keywords: anogenital squamous cell carcinoma; condyloma; human papilloma virus; mRNA in situ hybridization; next-generation sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor* / analysis
  • Biomarkers, Tumor* / genetics
  • Carcinoma, Squamous Cell* / genetics
  • Carcinoma, Squamous Cell* / pathology
  • Carcinoma, Squamous Cell* / virology
  • Condylomata Acuminata* / genetics
  • Condylomata Acuminata* / pathology
  • Condylomata Acuminata* / virology
  • Cyclin-Dependent Kinase Inhibitor p16
  • Female
  • Human Papillomavirus Viruses* / physiology
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Male
  • Middle Aged
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Squamous Intraepithelial Lesions* / genetics
  • Squamous Intraepithelial Lesions* / pathology
  • Squamous Intraepithelial Lesions* / virology
  • Young Adult

Substances

  • Biomarkers, Tumor
  • Cyclin-Dependent Kinase Inhibitor p16
  • RNA, Messenger