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Updated: Jul 12, 2026

RNAscope for In situ Detection of Transcriptionally Active Human Papillomavirus in Head and Neck Squamous Cell Carcinoma
Published on: March 11, 2014
FGFR3::TACC3 Fusion and NOTCH1 Loss-of-Function in a Case of HPV-Associated Sinonasal Squamous Cell Carcinoma:
Xu Cao1, Hong Yu1, Reham Hamdy Abdulazim Soliman1
1Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
Abstract:
Sinonasal squamous cell carcinoma (SNSCC) comprises a heterogeneous group of tumors with emerging molecular subtypes. Human papillomavirus (HPV)-associated SNSCC is a distinct entity, although actionable genomic alterations beyond HPV-driven pathways remain underexplored. Distinguishing HPV-associated SNSCC from carcinoma ex inverted papilloma can be particularly challenging in limited biopsy specimens, as these lesions may appear morphologically similar. We report a case of HPV-associated SNSCC with concurrent FGFR3::TACC3 fusion and NOTCH1 p.C1416 stop-gain mutation.
Insights
Human papillomavirus (HPV)-associated sinonasal squamous cell carcinoma (SNSCC) presents unique molecular features. This case highlights concurrent FGFR3::TACC3 fusion and NOTCH1 mutations in HPV-associated SNSCC.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Sinonasal squamous cell carcinoma (SNSCC) is a diverse malignancy with evolving molecular classifications.
- Human papillomavirus (HPV)-associated SNSCC represents a distinct subtype, yet its genomic landscape beyond viral pathways requires further investigation.
- Morphological similarities between HPV-associated SNSCC and carcinoma ex inverted papilloma pose diagnostic challenges, especially in small biopsy samples.
Purpose of the Study:
- To describe a unique case of HPV-associated SNSCC.
- To identify and characterize concurrent molecular alterations in this specific SNSCC subtype.
- To contribute to the understanding of the genomic profile of HPV-associated SNSCC.
Main Methods:
- Case report.
- Histopathological examination of biopsy specimens.
- Molecular analysis including detection of HPV and identification of gene fusions and mutations.
Main Results:
- The study identified an HPV-associated SNSCC.
- Concurrent FGFR3::TACC3 gene fusion was detected.
- A NOTCH1 p.C1416 stop-gain mutation was also identified in the tumor.
Conclusions:
- This case expands the known molecular alterations in HPV-associated SNSCC.
- The concurrent FGFR3::TACC3 fusion and NOTCH1 mutation represent potential therapeutic targets.
- Further research is warranted to explore the clinical significance of these findings in HPV-associated SNSCC.
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