Genetic Landscape of Oral Cavity Squamous Cell Carcinoma

The association, if any, between gene mutations, pathologic features of squamous cell carcinoma of the head and neck, and patient prognosis is unknown. This study investigates the association between common gene mutations in oral cavity squamous cell carcinoma, pathologic features of malignancy, and patient survival.

Retrospective database review.

US hospitals.

The cBioPortal for Cancer Genomics database was queried for oral cavity squamous cell carcinoma patient data. Statistical analyses were conducted using IBM SPSS v29.

Of the 423 patients included, the majority were male (66.6%), white (89.3%), and current/former smokers (74.1%). Tumor protein p53 (TP53), titin (TTN), and FAT atypical cadherin 1 (FAT1) mutations were present in 72.3%, 31.2%, and 22.0% of patients, respectively. Mutant TP53 was associated with positive extranodal extension compared to wild-type (WT) TP53 (31.0% vs 18.8%) (P = .038) and perineural invasion (59.4% vs 44.3%, P = .021). High tumor mutational burden was present in 5.4% of cases. Gene mutations were not associated with differences in median overall survival or disease-free survival. Multivariable analysis revealed an association between mutant TP53 and the presence of extranodal extension (odds ratio [OR] 2.61, 95% CI 1.05-6.52, P = .039) and perineural invasion (OR 2.14, 95% CI 1.04-4.42, P = .039).

Mutant TP53 was associated with high-risk pathologic features, including extranodal extension and perineural invasion, but not with inferior survival. A high tumor mutational burden (>10) is rare in oral cavity squamous cell carcinoma. Further research into the interplay between genetic mutations and patient outcomes is needed.