<p>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 <i>FGFR3::TACC3</i> fusion and <i>NOTCH1</i> p.C1416 stop-gain mutation.</p>

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FGFR3::TACC3 Fusion and NOTCH1 Loss-of-Function in a Case of HPV-Associated Sinonasal Squamous Cell Carcinoma: Diagnostic Challenge and Implications for Targeted Therapy

  • Xu Cao,
  • Hong Yu,
  • Reham Hamdy Abdulazim Soliman,
  • Pei Ying,
  • Songlin Zhang,
  • Li Liang

摘要

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.