Introduction:
An increasing number of oropharyngeal squamous cell carcinoma (OPSCC) is associated
with human papillomavirus (HPV). Despite different biological and clinical features
HPV+ and HPV- OPSCC are treated equally. Due to improved survival rates compared to
patients with HPV- OPSCC, de-escalating treatment strategies are discussed for patients
with HPV+ OPSCC. However, a subgroup of patients with HPV+ OPSCC might not benefit
from de-escalated treatment due to an increased risk of treatment failure. Therefore,
we aimed to identify genetic alterations as potential biomarkers associated with a
risk of treatment failure.
Methods:
Primary tumor tissue of 12 patients with HPV+ OPSCC and severe course (SC) and best-matching
pairs with a favorable course (FC) of disease was analyzed by targeted next generation
sequencing and a SNP array for genetic and chromosomal aberrations.
Results:
No significant differences were observed between SC and FC patients on a chromosomal
level. However, on the selected gene panel SC patients had more mutations than FC
patients. Especially, STK11, HRAS, PIK3R1 and TP63 were strikingly more frequently
altered in SC patients than in FC patients. Additionally, the combination of mutations
and chromosomal aberrations on chromosomes 16 and 19 might influence outcome.
Conclusion:
Compared to SC patients FC patients had a higher number of genetic mutations in the
genes studied. Our research shows that genetic markers could be used to identify patients
at risk for treatment failure.