Nathan Cherie-Ann, Khandelwal Alok R, Wolf Gregory T, Rodrigo Juan P, Mäkitie Antti A, Saba Nabil F, Forastiere Arlene A, Bradford Carol R, Ferlito Alfio
Department of Otolaryngology-Head and Neck Surgery, Louisiana State University-Health Shreveport, Shreveport, Louisiana, USA.
Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan, USA.
Mol Carcinog. 2022 Apr;61(4):385-391. doi: 10.1002/mc.23385. Epub 2022 Feb 23.
Head and neck squamous cell carcinomas (HNSCCs) arising in the mucosal linings of the upper aerodigestive tract are highly heterogeneous, aggressive, and multifactorial tumors affecting more than half a million patients worldwide each year. Classical etiological factors for HNSCC include alcohol, tobacco, and human papillomavirus (HPV) infection. Current treatment options for HNSCCs encompass surgery, radiotherapy, chemotherapy, or combinatorial remedies. Comprehensive integrative genomic analysis of HNSCC has identified mutations in TP53 gene as the most frequent of all somatic genomic alterations. TP53 mutations are associated with either loss of wild-type p53 function or gain of functions that promote invasion, metastasis, genomic instability, and cancer cell proliferation. Interestingly, disruptive TP53 mutations in tumor DNA are associated with aggressiveness and reduced survival after surgical treatment of HNSCC. This review summarizes the current evidence and impact of TP53 mutations in HNSCC.
发生在上呼吸道消化道黏膜的头颈部鳞状细胞癌（HNSCC）是高度异质性、侵袭性和多因素的肿瘤，每年影响全球超过50万患者。HNSCC的经典病因包括酒精、烟草和人乳头瘤病毒（HPV）感染。HNSCC目前的治疗选择包括手术、放疗、化疗或联合治疗。对HNSCC的综合整合基因组分析已确定TP53基因突变为所有体细胞基因组改变中最常见的突变。TP53突变与野生型p53功能丧失或促进侵袭、转移、基因组不稳定和癌细胞增殖的功能获得有关。有趣的是，肿瘤DNA中的破坏性TP53突变与HNSCC手术治疗后的侵袭性和生存率降低有关。本综述总结了目前关于HNSCC中TP53突变的证据及其影响。
