Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor

• Main Authors: Melvin A. Ambele, Michael S. Pepper, Marlene B. vanHeerden, Willie F. P. vanHeerden
• Format: Article
• Language: English
• Published: Wiley 2019-06-01
• Series: Laryngoscope Investigative Otolaryngology
• Subjects: Oral cancer; squamous cell carcinoma; OncoScan analysis; copy number variation; loss of heterozygosity
• Online Access: https://doi.org/10.1002/lio2.266

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. Level of Evidence Case report