Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor
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 recogniza...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-06-01
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| Series: | Laryngoscope Investigative Otolaryngology |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/lio2.266 |
| _version_ | 1818138057717579776 |
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| author | Melvin A. Ambele Michael S. Pepper Marlene B. vanHeerden Willie F. P. vanHeerden |
| author_facet | Melvin A. Ambele Michael S. Pepper Marlene B. vanHeerden Willie F. P. vanHeerden |
| author_sort | Melvin A. Ambele |
| collection | DOAJ |
| description | 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 |
| first_indexed | 2024-12-11T10:06:09Z |
| format | Article |
| id | doaj.art-91f435d2889e40a38d008fd37a7dbc15 |
| institution | Directory Open Access Journal |
| issn | 2378-8038 |
| language | English |
| last_indexed | 2024-12-11T10:06:09Z |
| publishDate | 2019-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Laryngoscope Investigative Otolaryngology |
| spelling | doaj.art-91f435d2889e40a38d008fd37a7dbc152022-12-22T01:11:56ZengWileyLaryngoscope Investigative Otolaryngology2378-80382019-06-014331031310.1002/lio2.266Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factorMelvin A. Ambele0Michael S. Pepper1Marlene B. vanHeerden2Willie F. P. vanHeerden3Department of Immunology, and SAMRC Extramural Unit for Stem Cell Research and Therapy, Faculty of Health Sciences Institute for Cellular and Molecular Medicine, University of Pretoria Pretoria South AfricaDepartment of Immunology, and SAMRC Extramural Unit for Stem Cell Research and Therapy, Faculty of Health Sciences Institute for Cellular and Molecular Medicine, University of Pretoria Pretoria South AfricaDepartment of Oral Pathology and Oral Biology School of Dentistry, Faculty of Health Sciences, University of Pretoria Pretoria South AfricaDepartment of Oral Pathology and Oral Biology School of Dentistry, Faculty of Health Sciences, University of Pretoria Pretoria South AfricaBackground 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 reporthttps://doi.org/10.1002/lio2.266Oral cancersquamous cell carcinomaOncoScan analysiscopy number variationloss of heterozygosity |
| spellingShingle | Melvin A. Ambele Michael S. Pepper Marlene B. vanHeerden Willie F. P. vanHeerden Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor Laryngoscope Investigative Otolaryngology Oral cancer squamous cell carcinoma OncoScan analysis copy number variation loss of heterozygosity |
| title | Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor |
| title_full | Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor |
| title_fullStr | Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor |
| title_full_unstemmed | Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor |
| title_short | Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor |
| title_sort | molecular profile of tongue cancer in an 18 year old female patient with no recognizable risk factor |
| topic | Oral cancer squamous cell carcinoma OncoScan analysis copy number variation loss of heterozygosity |
| url | https://doi.org/10.1002/lio2.266 |
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