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Publication: Molecular profile of tongue cancer in an 18-year-old female patient with no recognizable risk factor
Ambele, M.A Pepper, M.S van Heerden, M.B van Heerden, W.F.P
Ambele, M.A
Pepper, M.S
van Heerden, M.B
van Heerden, W.F.P
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.
Description
Date
2019-06
Journal Title
Journal ISSN
Volume Title
Publisher
Laryngoscope Investigative Otolaryngology
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Research Projects
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Journal Issue
Keywords
OncoScan analysis,Oral cancer,Copy number variation,Loss of heterozygosity,Squamous cell carcinoma
Citation
Ambele MA , Pepper MS , van Heerden MB, van Heerden WFP. Molecular profile of tongue cancer in an 18-year-old female patient with no recognizable risk factor. Laryngoscope Investigative Otolaryngology. 2019 Jun;4(3):310-3. doi: 10.1002/lio2.266