Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review

Objective This investigation aims to review the known genetic mutations associated with oral cavity squamous cell carcinoma (OCSCC) in young adults with limited environmental risk factors (YLERs). Data Sources A comprehensive search strategy was designed to identify studies in MEDLINE (Ovid), Embase...

Full description

Bibliographic Details
Main Authors: Rohini R. Bahethi, Katelyn O. Stepan MD, Rachel Pinotti MLIS, Ryan Li MD, Nishant Agrawal MD, Sidharth V. Puram MD, PHD, Brett A. Miles DDS, MD, Brittany Barber MD, MSc, FRCSC
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:OTO Open
Online Access:https://doi.org/10.1177/2473974X20970181
_version_ 1797426485301084160
author Rohini R. Bahethi
Katelyn O. Stepan MD
Rachel Pinotti MLIS
Ryan Li MD
Nishant Agrawal MD
Sidharth V. Puram MD, PHD
Brett A. Miles DDS, MD
Brittany Barber MD, MSc, FRCSC
author_facet Rohini R. Bahethi
Katelyn O. Stepan MD
Rachel Pinotti MLIS
Ryan Li MD
Nishant Agrawal MD
Sidharth V. Puram MD, PHD
Brett A. Miles DDS, MD
Brittany Barber MD, MSc, FRCSC
author_sort Rohini R. Bahethi
collection DOAJ
description Objective This investigation aims to review the known genetic mutations associated with oral cavity squamous cell carcinoma (OCSCC) in young adults with limited environmental risk factors (YLERs). Data Sources A comprehensive search strategy was designed to identify studies in MEDLINE (Ovid), Embase (Ovid), and Scopus from database inception to May 2017 that included adults ≤50 years of age with OCSCC and minimal tobacco use history (≤10 pack-years) who had their tumors genetically sequenced or mutational profiles analyzed. Review Methods Identified articles were screened by 2 reviewers. Quality of evidence was graded by the MINORS criteria for case-control studies; other studies were graded by assigning a level of evidence for gene mutation literature. Results Thirteen studies met our inclusion criteria, and 130 patients met our criteria for age and tobacco history. TP53 was the most commonly evaluated gene (10 of 13 studies) and the most frequently observed mutation. One study reported that nonsmokers had significantly fewer TP53 mutations, while 9 studies found no difference in the prevalence of TP53 mutations. No other mutations were found specific to this cohort. Conclusions TP53 mutations may occur at a similar rate in YLERs with OCSCC as compared with older patients or those with risk factors. However, few studies have aimed to characterize the genetic landscape of oral cavity tumors in this population, often with small sample sizes. Future studies are needed to explore unidentified genetic alterations leading to tumor susceptibility or alternative mechanisms of carcinogenesis.
first_indexed 2024-03-09T08:30:52Z
format Article
id doaj.art-836d208e2b174be090de222bac57e136
institution Directory Open Access Journal
issn 2473-974X
language English
last_indexed 2024-03-09T08:30:52Z
publishDate 2020-11-01
publisher Wiley
record_format Article
series OTO Open
spelling doaj.art-836d208e2b174be090de222bac57e1362023-12-02T20:02:33ZengWileyOTO Open2473-974X2020-11-01410.1177/2473974X20970181Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic ReviewRohini R. Bahethi0Katelyn O. Stepan MD1Rachel Pinotti MLIS2Ryan Li MD3Nishant Agrawal MD4Sidharth V. Puram MD, PHD5Brett A. Miles DDS, MD6Brittany Barber MD, MSc, FRCSC7Icahn School of Medicine at Mount Sinai, New York, New York, USADepartment of Otolaryngology–Head and Neck Surgery, Washington University School of Medicine, St Louis, Missouri, USAGustave L. and Janet W. Levy Library, Icahn School of Medicine at Mount Sinai, New York, New York, USADepartment of Otolaryngology–Head and Neck Surgery, Oregon Health and Science University, Oregon, USADepartment of Surgery, University of Chicago, Illinois, USADepartment of Otolaryngology–Head and Neck Surgery, Washington University School of Medicine, St Louis, Missouri, USADepartment of Otolaryngology–Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, New York, USADepartment of Otolaryngology–Head and Neck Surgery, University of Washington, Seattle, Washington, USAObjective This investigation aims to review the known genetic mutations associated with oral cavity squamous cell carcinoma (OCSCC) in young adults with limited environmental risk factors (YLERs). Data Sources A comprehensive search strategy was designed to identify studies in MEDLINE (Ovid), Embase (Ovid), and Scopus from database inception to May 2017 that included adults ≤50 years of age with OCSCC and minimal tobacco use history (≤10 pack-years) who had their tumors genetically sequenced or mutational profiles analyzed. Review Methods Identified articles were screened by 2 reviewers. Quality of evidence was graded by the MINORS criteria for case-control studies; other studies were graded by assigning a level of evidence for gene mutation literature. Results Thirteen studies met our inclusion criteria, and 130 patients met our criteria for age and tobacco history. TP53 was the most commonly evaluated gene (10 of 13 studies) and the most frequently observed mutation. One study reported that nonsmokers had significantly fewer TP53 mutations, while 9 studies found no difference in the prevalence of TP53 mutations. No other mutations were found specific to this cohort. Conclusions TP53 mutations may occur at a similar rate in YLERs with OCSCC as compared with older patients or those with risk factors. However, few studies have aimed to characterize the genetic landscape of oral cavity tumors in this population, often with small sample sizes. Future studies are needed to explore unidentified genetic alterations leading to tumor susceptibility or alternative mechanisms of carcinogenesis.https://doi.org/10.1177/2473974X20970181
spellingShingle Rohini R. Bahethi
Katelyn O. Stepan MD
Rachel Pinotti MLIS
Ryan Li MD
Nishant Agrawal MD
Sidharth V. Puram MD, PHD
Brett A. Miles DDS, MD
Brittany Barber MD, MSc, FRCSC
Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review
OTO Open
title Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review
title_full Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review
title_fullStr Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review
title_full_unstemmed Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review
title_short Genetic Mutations in Young Nonsmoking Patients With Oral Cavity Cancer: A Systematic Review
title_sort genetic mutations in young nonsmoking patients with oral cavity cancer a systematic review
url https://doi.org/10.1177/2473974X20970181
work_keys_str_mv AT rohinirbahethi geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview
AT katelynostepanmd geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview
AT rachelpinottimlis geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview
AT ryanlimd geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview
AT nishantagrawalmd geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview
AT sidharthvpurammdphd geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview
AT brettamilesddsmd geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview
AT brittanybarbermdmscfrcsc geneticmutationsinyoungnonsmokingpatientswithoralcavitycancerasystematicreview