Department of Molecular Pathology, Faculty of Medicine, Oita University, Oita, Japan.
Invest Ophthalmol Vis Sci. 2010 Jan;51(1):7-11. doi: 10.1167/iovs.09-4127. Epub 2009 Jul 23.
The purpose of this study was to detect mutation of the p53 gene, to assess its relationship with p53 or p21(WAF1/CIP1) expression, and to evaluate the correlation between p53 mutation or p21(WAF1/CIP1) expression and clinicopathologic findings in sebaceous carcinoma of the eyelid.
Fifteen conventional paraffin-embedded samples of sebaceous carcinoma of the eyelid were analyzed. Using the single-strand conformation polymorphism technique, the authors sequenced coding exons 5-8 of the p53 gene. The expression of p53 and p21(WAF1/CIP1) protein was analyzed by immunohistochemistry.
In 10 of the 15 cases (66.7%), point mutations were detected in the p53 gene. CC to TT double-base changes (tandem mutations), which are known to be induced only by UV, were not detected in any of the mutations. Correlations between p53 mutation and expression were found to be statistically significant (P = 0.007). There was no significant correlation between p53 mutation and clinicopathologic findings or p21(WAF1/CIP1) expression. However, there was a significant inverse correlation between p21(WAF1/CIP1) expression and presence of lymph node metastasis (P = 0.007).
Among human cancers, sebaceous carcinoma of the eyelid may be one of those showing most frequent mutation of the p53 gene, which may not be caused by exposure to UV. p21(WAF1/CIP1) downregulation may be associated with lymph node metastasis.
本研究旨在检测 p53 基因突变，评估其与 p53 或 p21(WAF1/CIP1)表达的关系，并分析 p53 基因突变或 p21(WAF1/CIP1)表达与眼睑皮脂腺癌临床病理特征的相关性。
分析 15 例眼睑皮脂腺癌的常规石蜡包埋标本。应用单链构象多态性技术，对 p53 基因的 5-8 号外显子进行测序。采用免疫组织化学法分析 p53 和 p21(WAF1/CIP1)蛋白的表达。
在 15 例（66.7%）中有 10 例发现 p53 基因突变。在所有突变中均未发现已知仅由 UV 诱导的 CC 到 TT 双碱基改变（串联突变）。p53 突变与表达之间存在统计学显著相关性（P=0.007）。p53 突变与临床病理特征或 p21(WAF1/CIP1)表达之间无显著相关性。然而，p21(WAF1/CIP1)表达与淋巴结转移之间存在显著负相关（P=0.007）。
在人类癌症中，眼睑皮脂腺癌可能是 p53 基因突变最常见的癌症之一，其突变可能不是由 UV 暴露引起的。p21(WAF1/CIP1)下调可能与淋巴结转移有关。
