对低风险、非传统患者头颈部鳞状细胞癌发生的遗传因素进行全面综述。
Comprehensive review of genetic factors contributing to head and neck squamous cell carcinoma development in low-risk, nontraditional patients.
作者信息
Gingerich Morgan A, Smith Joshua D, Michmerhuizen Nicole L, Ludwig Megan, Devenport Samantha, Matovina Chloe, Brenner Chad, Chinn Steven B
机构信息
Program in Cellular and Molecular Biology, University of Michigan Medical School, Ann Arbor, Michigan.
Department of Otolaryngology - Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.
出版信息
Head Neck. 2018 May;40(5):943-954. doi: 10.1002/hed.25057. Epub 2018 Feb 10.
Abstract
BACKGROUND
The past 2 decades have seen an increased incidence of head and neck squamous cell carcinoma (HNSCC) in a nontraditional, low-risk patient population (ie, ≤45 years of age, no substance use history), owing to a combination of human papillomavirus (HPV) infection and individual genetic variation.
METHODS
Articles positing genetic variants as contributing factors in HNSCC incidence in low-risk, nontraditional patients were identified using a PubMed search, reviewed in detail, and concisely summarized herein.
RESULTS
Recent data suggest that common polymorphisms in DNA repair enzymes, cell-cycle control proteins, apoptotic pathway members, and Fanconi anemia-associated genes likely modulate susceptibility to HNSCC development in low-risk, nontraditional patients.
CONCLUSION
At present, there is a lack of robust, comprehensive data on genetic drivers of oncogenesis in low-risk patients and a clear need for further research on genetic alterations underlying the rising incidence of HNSCC in low-risk, nontraditional patients.
摘要
背景
在过去20年中，由于人乳头瘤病毒（HPV）感染和个体基因变异共同作用，在非传统的低风险患者群体（即年龄≤45岁、无物质使用史）中，头颈部鳞状细胞癌（HNSCC）的发病率有所上升。
方法
通过PubMed检索，找出将基因变异作为低风险、非传统患者发生HNSCC的影响因素的文章，并进行详细审阅，在此进行简要总结。
结果
近期数据表明，DNA修复酶、细胞周期调控蛋白、凋亡途径成员以及范可尼贫血相关基因中的常见多态性可能会调节低风险、非传统患者发生HNSCC的易感性。
结论
目前，缺乏关于低风险患者肿瘤发生的基因驱动因素的有力、全面的数据，并且显然需要进一步研究低风险、非传统患者中HNSCC发病率上升背后的基因改变。
相似文献
1
Comprehensive review of genetic factors contributing to head and neck squamous cell carcinoma development in low-risk, nontraditional patients.对低风险、非传统患者头颈部鳞状细胞癌发生的遗传因素进行全面综述。
Head Neck. 2018 May;40(5):943-954. doi: 10.1002/hed.25057. Epub 2018 Feb 10.
2
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.评估50岁之前的头颈癌患者中范可尼贫血基因的种系变异谱。
Cancer. 2017 Oct 15;123(20):3943-3954. doi: 10.1002/cncr.30802. Epub 2017 Jul 5.
3
Germline Pathogenic Variants in Squamous Cell Carcinoma of the Head and Neck.头颈部鳞状细胞癌中的种系致病性变异。
Folia Biol (Praha). 2023;69(4):107-115. doi: 10.14712/fb2023069040107.
4
Genetic susceptibility to head and neck squamous cell carcinoma.头颈部鳞状细胞癌的遗传易感性。
Int J Radiat Oncol Biol Phys. 2014 May 1;89(1):38-48. doi: 10.1016/j.ijrobp.2013.09.034.
5
Germline variants in DNA repair genes are associated with young-onset head and neck cancer.胚系 DNA 修复基因变异与早发性头颈部癌症相关。
Oral Oncol. 2021 Nov;122:105545. doi: 10.1016/j.oraloncology.2021.105545. Epub 2021 Sep 28.
6
Brain metastasis from squamous cell carcinoma of the head and neck: a review of the literature in the genomic era.脑转移来自头颈部鳞状细胞癌：基因组时代文献复习。
Neurosurg Focus. 2018 Jun;44(6):E11. doi: 10.3171/2018.2.FOCUS17761.
7
Second primary lung malignancy following head and neck squamous cell carcinoma.头颈部鳞状细胞癌后继发的第二原发性肺癌
Laryngoscope. 2019 Apr;129(4):903-909. doi: 10.1002/lary.27422. Epub 2018 Nov 22.
8
A three-lncRNA expression signature predicts survival in head and neck squamous cell carcinoma (HNSCC).三长链非编码 RNA 表达特征可预测头颈部鳞状细胞癌 (HNSCC) 的生存情况。
Biosci Rep. 2018 Nov 20;38(6). doi: 10.1042/BSR20181528. Print 2018 Dec 21.
9
[Research progress in pathogenesis, treatment and prognosis of HPV positive head and neck squamous cell carcinoma].[人乳头瘤病毒阳性头颈部鳞状细胞癌的发病机制、治疗及预后研究进展]
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2018 May 7;53(5):392-396. doi: 10.3760/cma.j.issn.1673-0860.2018.05.014.
10
Carbonyl reductase 1 is a new target to improve the effect of radiotherapy on head and neck squamous cell carcinoma.羰基还原酶 1 是提高头颈部鳞状细胞癌放射治疗效果的新靶点。
J Exp Clin Cancer Res. 2018 Oct 30;37(1):264. doi: 10.1186/s13046-018-0942-9.
引用本文的文献
1
Unravelling molecular mechanism of oral squamous cell carcinoma and genetic landscape: an insight into disease complexity, available therapies, and future considerations.揭示口腔鳞状细胞癌的分子机制和基因图谱：洞察疾病复杂性、现有治疗方法及未来考量
Front Immunol. 2025 Aug 13;16:1626243. doi: 10.3389/fimmu.2025.1626243. eCollection 2025.
2
The association of E2F1 and E2F2 single nucleotide polymorphisms with laryngeal squamous cell carcinoma pathomorphological features.E2F1 和 E2F2 单核苷酸多态性与喉鳞状细胞癌病理形态特征的关系。
BMC Cancer. 2024 Feb 15;24(1):214. doi: 10.1186/s12885-024-11953-z.
3
Association of the cytochrome P450 and arylamine N-acetyltransferase gene polymorphisms with the incidence of head and neck cancer in Polish population.细胞色素 P450 和芳香胺 N-乙酰基转移酶基因多态性与波兰人群头颈部癌症发生率的关联。
Int J Occup Med Environ Health. 2023 Dec 15;36(6):812-824. doi: 10.13075/ijomeh.1896.02070. Epub 2023 Dec 7.
4
Exploring stage‑specific embryonic antigen 3 involvement in oral cancer progression and as a potential target for taxane‑based chemotherapy.探讨阶段特异性胚胎抗原 3 在口腔癌进展中的作用及其作为紫杉烷类化疗潜在靶点的可能性。
Oncol Rep. 2023 Oct;50(4). doi: 10.3892/or.2023.8619. Epub 2023 Aug 24.
5
Oral Cavity Squamous Cell Carcinoma Risk Factors: State of the Art.口腔鳞状细胞癌的危险因素：最新进展
J Clin Med. 2023 May 3;12(9):3264. doi: 10.3390/jcm12093264.
6
Associations of GWAS-Identified Risk Loci with Progression, Efficacy and Toxicity of Radiotherapy of Head and Neck Squamous Cell Carcinoma Treated with Radiotherapy.全基因组关联研究（GWAS）鉴定的风险位点与头颈部鳞状细胞癌放疗的进展、疗效及毒性的相关性
Pharmgenomics Pers Med. 2021 Sep 21;14:1205-1210. doi: 10.2147/PGPM.S325349. eCollection 2021.
7
Genetic Variation in the ) Gene at rs13207351 Is Associated with Overall Survival of Patients with Head and Neck Cancer.rs13207351处基因的遗传变异与头颈癌患者的总生存期相关。
Cancers (Basel). 2021 Mar 8;13(5):1163. doi: 10.3390/cancers13051163.
8
Bacteriome and mycobiome and bacteriome-mycobiome interactions in head and neck squamous cell carcinoma.头颈部鳞状细胞癌中的细菌群落、真菌群落以及细菌-真菌群落相互作用
Oncotarget. 2020 Jun 23;11(25):2375-2386. doi: 10.18632/oncotarget.27629.
9
POSITIVE EXPRESSION OF NEDD9 IN HEAD AND NECK CANCER IS RELATED TO BETTER SURVIVAL PERIOD.NEDD9在头颈癌中的阳性表达与更好的生存期相关。
Acta Clin Croat. 2019 Dec;58(4):655-661. doi: 10.20471/acc.2019.58.04.13.
10
Protecting Tumors by Preventing Human Papilloma Virus Antigen Presentation: Insights from Emerging Bioinformatics Algorithms.通过阻止人乳头瘤病毒抗原呈递来保护肿瘤：新兴生物信息学算法带来的见解
Cancers (Basel). 2019 Oct 12;11(10):1543. doi: 10.3390/cancers11101543.
本文引用的文献
1
Epidemiological Trends of Head and Neck Cancer in the United States: A SEER Population Study.美国头颈癌的流行病学趋势：一项监测、流行病学和最终结果（SEER）人群研究
J Oral Maxillofac Surg. 2017 Dec;75(12):2562-2572. doi: 10.1016/j.joms.2017.05.008. Epub 2017 May 22.
2
Global, Regional, and National Cancer Incidence, Mortality, Years of Life Lost, Years Lived With Disability, and Disability-Adjusted Life-years for 32 Cancer Groups, 1990 to 2015: A Systematic Analysis for the Global Burden of Disease Study.全球、区域和国家癌症发病率、死亡率、生命损失年数、失能生存年数以及 32 种癌症组别的伤残调整生命年数，1990 年至 2015 年：全球疾病负担研究的系统分析。
JAMA Oncol. 2017 Apr 1;3(4):524-548. doi: 10.1001/jamaoncol.2016.5688.
3
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.遗传性骨髓衰竭综合征范可尼贫血分子发病机制的最新发现。
Blood Rev. 2017 May;31(3):93-99. doi: 10.1016/j.blre.2016.10.002. Epub 2016 Oct 13.
4
A functional variant at the miRNA binding site in E2F1 gene is associated with risk and tumor HPV16 status of oropharynx squamous cell carcinoma.E2F1基因中微小RNA结合位点的一个功能性变体与口咽鳞状细胞癌的风险及肿瘤人乳头瘤病毒16型状态相关。
Mol Carcinog. 2017 Mar;56(3):1100-1106. doi: 10.1002/mc.22576. Epub 2016 Oct 20.
5
The Molecular Landscape of Recurrent and Metastatic Head and Neck Cancers: Insights From a Precision Oncology Sequencing Platform.复发性和转移性头颈癌的分子图谱：来自精准肿瘤学测序平台的见解
JAMA Oncol. 2017 Feb 1;3(2):244-255. doi: 10.1001/jamaoncol.2016.1790.
6
The Fanconi anaemia pathway: new players and new functions.范可尼贫血通路：新的参与者和新的功能。
Nat Rev Mol Cell Biol. 2016 Jun;17(6):337-49. doi: 10.1038/nrm.2016.48. Epub 2016 May 5.
7
Squamous cell carcinoma of the oral cavity often overexpresses p16 but is rarely driven by human papillomavirus.口腔鳞状细胞癌通常过度表达p16，但很少由人乳头瘤病毒驱动。
Oral Oncol. 2016 May;56:47-53. doi: 10.1016/j.oraloncology.2016.03.003. Epub 2016 Mar 21.
8
Hereditary melanoma: Update on syndromes and management: Emerging melanoma cancer complexes and genetic counseling.遗传性黑色素瘤：综合征与管理的最新进展：新兴的黑色素瘤癌症综合征及遗传咨询
J Am Acad Dermatol. 2016 Mar;74(3):411-20; quiz 421-2. doi: 10.1016/j.jaad.2015.08.037.
9
p53: Protection against Tumor Growth beyond Effects on Cell Cycle and Apoptosis.p53：除了对细胞周期和细胞凋亡的影响之外，p53 还能预防肿瘤生长。
Cancer Res. 2015 Dec 1;75(23):5001-7. doi: 10.1158/0008-5472.CAN-15-0563. Epub 2015 Nov 16.
10
Fanconi anemia: young patients at high risk for squamous cell carcinoma.范科尼贫血：鳞状细胞癌的年轻高危患者。
Mol Cell Pediatr. 2014 Dec;1(1):9. doi: 10.1186/s40348-014-0009-8. Epub 2014 Nov 1.
Zotero 插件