The Codon 72 Arginine Polymorphism Is Found with Increased Somatic Mutations in HPV(-) and in an Increased Percentage among HPV(+) Norwegian HNSCC Patients.

Background: Somatic mutations are frequent in head and neck squamous cell carcinoma (HNSCC) and are important pathogenic factors.

Objective: To study mutations relative to the presence of human papillomavirus (HPV) in tumors in HNSCC patients.

Methods: Using a custom-made next-generation sequencing (NGS) panel on formalin-fixed, paraffin-embedded tumor tissue, we analyzed somatic mutations and the single-nucleotide polymorphism (SNP) codon 72 (P72R; rs1042522) (proline → arginine) from 104 patients with HNSCC.

Results: Only 2 of 44 patients with HPV-positive (HPV(+)) HNSCC had a somatic mutation, as opposed to 42/60 HPV-negative (HPV(-)) HNSCC patients ( < 0.001). Forty-five different somatic mutations were detected. Furthermore, in HPV(-) patients, we determined an 80% prevalence of somatic mutations in the R72 polymorphism cohort versus 40% in the P72 cohort ( = 0.001). A higher percentage of patients with oral cavity SCC had mutations than HPV(-) oropharyngeal (OP) SCC patients ( = 0.012). Furthermore, 39/44 HPV(+) tumor patients harbored the R72 polymorphism in contrast to 42/60 patients in the HPV(-) group ( = 0.024).

Conclusions: Our observations show that R72 polymorphism is associated with a tumor being HPV(+). We also report a higher percentage of somatic mutations with R72 than P72 in HPV(-) HNSCC patients.