眼部鳞状细胞癌p53基因突变的研究

A study of p53 gene mutations in squamous cell carcinoma in eyes

目的探讨眼部鳞状细胞癌发生的分子生物学机制。方法采用聚合酶链反应———限制性片段长度多态性（ｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎｒｅｓｔｒｉｃｔｉｏｎｆｒａｇｍｅｎｔｌｅｎｇｔｈｐｏｌｙｍｏｒｐｈｉｓｍｓ，ＰＣＲＲＦＬＰ）方法，对６３例患者的送检标本（包括３６例浸润性鳞状细胞癌，７例原位癌，２０例乳头状瘤）中ｐ５３基因２４８位点的突变进行检测。结果２２．２％（８／３６）的浸润性鳞状细胞癌及１４．３％（１／７）的原位癌中有ｐ５３基因２４８位点的突变，而在乳头状瘤中则未检测到，差异有显著性（Ｐ＝０．０２１）。７０岁以上的患者中未发现ｐ５３基因的突变，７０岁以下突变率为３３．３％，差异有显著性（Ｐ＝０．０２４）。ｐ５３基因突变与眼部鳞状细胞癌临床病理特征无关（Ｐ＞０．０５）。结论ｐ５３基因突变在眼部鳞状细胞癌的发生早期起一定作用，与临床病理特征无关。在７０岁以上的老年患者中ｐ５３基因突变不是肿瘤发生的主要原因。

Objective To inquire into the molecular biological mechanisms of the occurrence of squamous cell carcinoma in eyes. Methods Using polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP) method, we detected 63 samples taken from 63 cases (including 36 invasive squamous carcinoma, 7 carcinoma in situ, 20 papillomas) for 248 point mutations in p53 gene. Results 22.2% (8/36) squamous cell carcinomas, 14.3% (1/7) carcinomas in situ were shown to contain the point mutation in codon 248 of p53 gene exon 7 and no point mutation was found in papillomas, the difference being significant (P=0.021). No point mutation was in patients over 70, while in patients younger than 70, the mutation rate was 33.3%, the difference being significant (P=0.24). No significant correlation was found between p53 gene mutations and clinical pathological manifestations (P>0.05). Conclusions p53 gene mutations play roles in the early stage of the development of squamous cell carcinomas, and there is no correlation between p53 gene mutations and clinical manifestations. The mutation in p53 gene is not the main cause of neoplasms in the elder persons after the seventh decade of life.