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目的更深入了解人食管鳞状细胞癌中p53基因突变的地域差异及临床特征之间的差异。方法从中国食管鳞癌的高发区河南林县以及浙江省收集共92例人食管鳞状细胞癌(ESCC)标本,使用免疫组化、PCR-SSCP分析和DNA测序的方法分析p53肿瘤抑制基因。结果p53基因的突变或过表达分别为30.4%和51.1%(P<0.05)。p53的过表达与肿瘤的转移和患者存活期相关,两个不同地域收集的肿瘤标本中发现了不同的突变模式。结论p53的突变或过表达在食管鳞癌的发展中可能起到了重要的作用。致癌因子的各种不同组合,可能是两个地区人群中基因组的不稳定性所致。这种不稳定性在某种水平上决定了不同地区不同的发病率。
Objective To understand more about the difference between the regional and clinical features of p53 gene mutation in human esophageal squamous cell carcinoma. METHODS: A total of 92 esophageal squamous cell carcinoma (ESCC) specimens were collected from Linxian, Henan Province and Zhejiang Province, China. The immunohistochemistry, PCR-SSCP and DNA sequencing were used to analyze the p53 tumor suppressor genes. Results The mutation or overexpression of p53 gene was 30.4% and 51.1%, respectively (P <0.05). Overexpression of p53 is associated with tumor metastasis and patient survival, and different patterns of mutation were found in tumor samples collected from two different regions. Conclusion The mutation or overexpression of p53 may play an important role in the development of esophageal squamous cell carcinoma. Different combinations of carcinogenic factors may be caused by the instability of the genome in the population of both regions. This kind of instability to some extent determines the different incidence of different regions.