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年轻非吸烟口腔癌患者的基因突变:一项系统综述

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

作者信息

Bahethi Rohini R, Stepan Katelyn O, Pinotti Rachel, Li Ryan, Agrawal Nishant, Puram Sidharth V, Miles Brett A, Barber Brittany

机构信息

Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Department of Otolaryngology-Head and Neck Surgery, Washington University School of Medicine, St Louis, Missouri, USA.

出版信息

OTO Open. 2020 Nov 3;4(4):2473974X20970181. doi: 10.1177/2473974X20970181. eCollection 2020 Oct-Dec.

Abstract

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. was the most commonly evaluated gene (10 of 13 studies) and the most frequently observed mutation. One study reported that nonsmokers had significantly fewer mutations, while 9 studies found no difference in the prevalence of mutations. No other mutations were found specific to this cohort.

CONCLUSIONS

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.

摘要

目的

本研究旨在回顾与环境风险因素有限的年轻成年人(YLERs)口腔鳞状细胞癌(OCSCC)相关的已知基因突变。

数据来源

设计了一种全面的检索策略,以识别从数据库建立至2017年5月在MEDLINE(Ovid)、Embase(Ovid)和Scopus中收录的研究,这些研究纳入了年龄≤50岁、患有OCSCC且烟草使用史有限(≤10包年)、其肿瘤进行了基因测序或突变谱分析的成年人。

综述方法

由2名评审员筛选识别出的文章。证据质量根据病例对照研究的MINORS标准进行分级;其他研究则根据基因突变文献的证据水平进行分级。

结果

13项研究符合我们的纳入标准,130名患者符合我们的年龄和烟草史标准。[基因名称]是最常评估的基因(13项研究中的10项)且是最常观察到的突变。一项研究报告称不吸烟者的[基因名称]突变明显较少,而9项研究未发现[基因名称]突变患病率存在差异。未发现该队列特有的其他突变。

结论

与老年患者或有风险因素的患者相比,YLERs患OCSCC时[基因名称]突变的发生率可能相似。然而,很少有研究旨在描述该人群口腔肿瘤的基因图谱,且样本量往往较小。未来需要开展研究以探索导致肿瘤易感性的未识别基因改变或致癌的替代机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e795/7643225/ddc321f42859/10.1177_2473974X20970181-fig1.jpg

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