Primary Laryngeal Squamous Cell Carcinoma with DEK::AFF2 Fusion: The First Case Report

Area of Science:

• Oncology
• Genetics
• Pathology

Background:

• DEK::AFF2 fusion squamous cell carcinoma (SCC) is a rare, aggressive non-keratinizing SCC subtype.
• Previously documented cases primarily involved the sinonasal tract, middle ear, and skull base.
• Only 62 cases have been described, with rare exceptions in the lung and trachea.

Purpose of the Study:

• To document the first case of primary laryngeal SCC with a DEK::AFF2 fusion.
• To characterize this rare tumor using comprehensive analyses.

Main Methods:

• Case report of a 64-year-old female with hoarseness and airway obstruction.
• Utilized clinical, radiologic, histopathologic, immunohistochemical, and molecular analyses.
• Confirmed DEK::AFF2 fusion via FISH and RT-PCR.

Main Results:

• Identified a transglottic mass consistent with non-keratinizing SCC.
• Histopathology showed monotonous tumor cells with infiltrative growth, diffuse p40 positivity, and nuclear AFF2 expression.
• Patient achieved disease-free status at 12 months post-laryngectomy and adjuvant therapy.

Conclusions:

• This case expands the anatomical sites for DEK::AFF2 fusion SCC to the larynx.
• Suggests DEK::AFF2 fusion SCC can occur throughout the respiratory tract epithelium.
• Emphasizes the importance of recognizing this fusion in diagnosing non-keratinizing SCCs.