Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ambele, Melvin A., Pepper, Michael S., van Heerden, Marlene B., van Heerden, Willie F. P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
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
_version_ 1783427961114853376
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
work_keys_str_mv AT ambelemelvina molecularprofileoftonguecancerinan18yearoldfemalepatientwithnorecognizableriskfactor
AT peppermichaels molecularprofileoftonguecancerinan18yearoldfemalepatientwithnorecognizableriskfactor
AT vanheerdenmarleneb molecularprofileoftonguecancerinan18yearoldfemalepatientwithnorecognizableriskfactor
AT vanheerdenwilliefp molecularprofileoftonguecancerinan18yearoldfemalepatientwithnorecognizableriskfactor