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[头颈部鳞状细胞癌患者TP53基因内突变的分析]

[Analysis of mutations within the TP53 gene in patients with squamous cell carcinoma of the head and neck].

作者信息

Golusinski Paweł, Lamperska Katarzyna, Pazdrowski Jakub, Golusinski Wojciech

机构信息

Oddział Chirurgii Głowy i Szyi i Onkologii Laryngologicznej, Wielkopolskie Centrum Onkologii, Poznań.

出版信息

Otolaryngol Pol. 2011 Mar-Apr;65(2):114-21. doi: 10.1016/S0030-6657(11)70640-0.

Abstract

Head and neck cancer is the sixth most common type of cancer. Tobacco and alcohol consumption are implicated in 75% of all SCCHN and have a multiplicative combined effect. It is considered to be the main risk factor for the cancer development. The identification of a number of these genetic alterations, for example mutations in the p53 tumour suppressor gene, paved the way for their use as molecular markers. Mutations in the TP53 gene frequently occur in many cancers and are present in 50-60% of head and neck cancers, p53 plays a sentinel role in the pathways that prevent development of cancer by inducing apoptosis, DNA repair and cell cycle arrest in response to different types of cellular stress The aim of the study, was the assessment of the TP53 mutations prevalence in the head and neck cancer patients and it's relation with the clinical data and course of the disease. The material comprised of peripheral blood and tumour tissue obtained from 50 HNSCC patients with a primary tumour in the oral cavity, oropharynx or larynx, who were scheduled for surgical treatment. The mutations in TP53, were detected with use of PCR-SSCP technique. In total 8 patients (16%), showed TP53 mutation in primary tumour. The significant correlation between tobacco and alcohol consumption and the mutation incidence has been observed. The site of the tumour and histopathological grading were also related to the prevalence of mutations, however without reaching the level of statistical significance. There was no correlation between mutations and the T and N stage of the disease.

摘要

头颈癌是第六大常见癌症类型。75%的头颈部鳞状细胞癌(SCCHN)都与烟草和酒精消费有关,且二者具有相乘的联合效应。它被认为是癌症发展的主要风险因素。一些此类基因改变的识别,例如p53肿瘤抑制基因的突变,为其作为分子标记物的应用铺平了道路。TP53基因的突变频繁出现在许多癌症中,在50%-60%的头颈癌中存在,p53在通过诱导凋亡、DNA修复以及响应不同类型细胞应激时的细胞周期停滞来预防癌症发展的通路中发挥着哨兵作用。本研究的目的是评估头颈癌患者中TP53突变的发生率及其与临床数据和疾病进程的关系。研究材料包括从50名头颈部鳞状细胞癌(HNSCC)患者获取的外周血和肿瘤组织,这些患者的原发肿瘤位于口腔、口咽或喉部,且计划接受手术治疗。使用PCR-SSCP技术检测TP53的突变。总共有8名患者(16%)在原发肿瘤中显示出TP53突变。已观察到烟草和酒精消费与突变发生率之间存在显著相关性。肿瘤部位和组织病理学分级也与突变发生率有关,然而未达到统计学显著水平。突变与疾病的T和N分期之间没有相关性。

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