Abstract:
BACKGROUND : The occurrence of oral tongue squamous cell carcinoma (TSCC) in nonsmoking young adults, especially
females, has increased. Yet, there is no clear evidence to support the existence of any single determinant. This case reports the
presence of TSCC in an 18-year-old female with no recognizable risk factor for oral cancer development.
METHODS : Histological examination and p16 immunohistochemistry were performed. Formalin-fixed paraffin-embedded
sections were prepared from resected tissue and DNA was extracted for molecular OncoScan analysis.
RESULTS : Histological and immunochemical analysis showed a p16-negative poorly differentiated keratinizing squamous
cell carcinoma. OncoScan analysis of this tumor revealed a high confidence TP53:p.R213*:c.637C>T somatic mutation as well
as copy number alterations of chromosomal regions including gains of 1p, 3q, 5p, 7p, 8p, 8q, 11q, 15q, 17q, and 20p, and losses
on 1p, 3p, 18q, and 22q.
CONCLUSION : The TP53:p.R213*:c.637C>T mutation detected is indicative of a genetic predisposition to cancer and it is
the first to be reported in TSCC in a nonsmoking young adult.
