Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, Colombo 00300, Sri Lanka.
Department of Oncosurgery, National Cancer Institute, Maharagama 10280, Sri Lanka.
Mol Med Rep. 2019 Apr;19(4):2781-2791. doi: 10.3892/mmr.2019.9948. Epub 2019 Feb 11.
Head and neck cancer (HNC) is the leading cancer in Sri Lankan males and second most common cancer among Sri Lankan females. This is the first study, to the best of our knowledge, that has focused on investigating the association between TP53 somatic DNA variants, with p53 protein expression and risk factors in a cohort of Sri Lankan patients with HNC. A total of 44 patients with cancer and 20 healthy controls were studied. In total, 36 genomic DNA sequence variants were found, including several novel variants (two deletions in exons 4 and 6, two in the 3' untranslated region and several intronic variants). A total of 14 tumour samples carried pathogenic TP53 mutations. A random selection of 24 samples was analysed immunohistochemically for p53 protein expression. All the samples with point missense variants were strongly immuno‑positive, whereas, samples with nonsense and frameshift TP53 variants were immuno‑negative for p53 immunohistochemical staining. Although, the human papilloma virus is a known risk factor for HNC, results from the present study identified an absence or lower level of infection in the Sri Lankan cohort.
头颈部癌症（HNC）是斯里兰卡男性中最常见的癌症，也是斯里兰卡女性中第二常见的癌症。据我们所知，这是第一项专门研究 TP53 体细胞 DNA 变异与 p53 蛋白表达和危险因素之间关联的研究，该研究针对的是一组 HNC 斯里兰卡患者。共研究了 44 名癌症患者和 20 名健康对照者。共发现 36 个基因组 DNA 序列变异，包括几个新变异（外显子 4 和 6 中的两个缺失，3' 非翻译区中的两个以及几个内含子变异）。共有 14 个肿瘤样本携带致病性 TP53 突变。对 24 个随机选择的样本进行了 p53 蛋白表达的免疫组织化学分析。所有具有点错义变异的样本均呈强免疫阳性，而具有无义和移码 TP53 变异的样本则对 p53 免疫组织化学染色呈阴性。尽管人乳头瘤病毒是 HNC 的已知危险因素，但本研究的结果表明，在斯里兰卡队列中感染的情况很少或较低。
