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.

中文翻译：

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头颈癌中的TP53突变

头颈部鳞状细胞癌 (HNSCC) 起源于上呼吸消化道的粘膜内层，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。目前 HNSCC 的治疗选择包括手术、放疗、化疗或组合疗法。HNSCC 的综合整合基因组分析已确定TP53基因突变是所有体细胞基因组改变中最常见的。TP53突变与野生型 p53 功能的丧失或促进侵袭、转移、基因组不稳定性和癌细胞增殖的功能的获得有关。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存活率降低有关。本综述总结了HNSCC中TP53突变的当前证据和影响。