Department of Otolaryngology/Head and Neck Surgery, Henry Ford Health System, Detroit, MI, United States.
Cancer Lett. 2014 Jan 28;342(2):178-84. doi: 10.1016/j.canlet.2012.02.018. Epub 2012 Mar 1.
A tissue field of somatic genetic alterations precedes the histopathological phenotypic changes of carcinoma. Genomic changes could be of potential use in the diagnosis and prognosis of pre-invasive squamous head and neck carcinoma (HNSCC) lesions and as markers for cancer risk assessment. Studies of sequential molecular alterations and genetic progression of pre-invasive HNSCC have not been clearly defined. Studies have shown recurring alterations at chromosome 9p21 (location of the CDKN2A) and TP53 mutations in the early stages of HNSCC. However, gene silencing via hypermethylation is still a relatively new idea in the development of HNSCC and little is known about the contribution of epigenetics to the development of neoplasia, its transformation, progression, and recurrence in HNSCC. This review examines the role of promoter hypermethylation of tumor suppressor genes in the progression continuum from benign papillomas to malignancy in HNSCC.
癌前病变组织中的体细胞遗传改变先于组织病理学表型变化。基因组改变可能对诊断和预测头颈部鳞状细胞癌（HNSCC）的侵袭前病变以及作为癌症风险评估的标志物具有潜在的应用价值。侵袭前 HNSCC 的连续分子改变和遗传进展的研究尚未明确界定。研究表明，在 HNSCC 的早期阶段，染色体 9p21（CDKN2A 所在位置）和 TP53 突变经常发生改变。然而，通过 hypermethylation 进行基因沉默在 HNSCC 的发展中仍然是一个相对较新的概念，关于表观遗传学对肿瘤发生、转化、进展和 HNSCC 复发的贡献知之甚少。这篇综述探讨了肿瘤抑制基因启动子 hypermethylation 在 HNSCC 从良性乳头瘤到恶性肿瘤的进展连续体中的作用。
