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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 recogniz...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580056/ https://www.ncbi.nlm.nih.gov/pubmed/31236464 http://dx.doi.org/10.1002/lio2.266 |
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author | Ambele, Melvin A. Pepper, Michael S. van Heerden, Marlene B. van Heerden, Willie F. P. |
author_facet | Ambele, Melvin A. Pepper, Michael S. van Heerden, Marlene B. van Heerden, Willie F. P. |
author_sort | Ambele, Melvin A. |
collection | PubMed |
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 |
format | Online Article Text |
id | pubmed-6580056 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-65800562019-06-24 Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor Ambele, Melvin A. Pepper, Michael S. van Heerden, Marlene B. van Heerden, Willie F. P. Laryngoscope Investig Otolaryngol Head and Neck, and Tumor Biology 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 John Wiley & Sons, Inc. 2019-04-23 /pmc/articles/PMC6580056/ /pubmed/31236464 http://dx.doi.org/10.1002/lio2.266 Text en © 2019 The Authors. Laryngoscope Investigative Otolaryngology published by Wiley Periodicals, Inc. on behalf of The Triological Society. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Head and Neck, and Tumor Biology Ambele, Melvin A. Pepper, Michael S. van Heerden, Marlene B. van Heerden, Willie F. P. Molecular profile of tongue cancer in an 18‐year‐old female patient with no recognizable risk factor |
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 | Head and Neck, and Tumor Biology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580056/ https://www.ncbi.nlm.nih.gov/pubmed/31236464 http://dx.doi.org/10.1002/lio2.266 |
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