[原发性肾透明细胞癌中VHL基因的体细胞突变及HIF-1α表达]
[Somatic mutations of VHL gene and HIF-1alpha expression in primary renal clear cell carcinomas].
作者信息
Guo Hong-feng, Gong Kan, Zou Shuang-mei, Zhang Zhi-wen, Liu Xiu-yun, Na Xi, Wu Guan, Na Yan-qun
机构信息
Department of Urology, First Hospital of Peking University, Beijing 100034, China.
出版信息
Zhonghua Wai Ke Za Zhi. 2004 Feb 22;42(4):196-200.
OBJECTIVE
To evaluate the significance of somatic mutations of VHL gene and hypoxia-inducible factor-1alpha (HIF-1alpha) expression in primary renal clear cell carcinoma (RCC).
METHODS
Mutation of VHL gene and HIF-1alpha expression were detected by means of PCR, denaturing high-performance liquid chromatography (DHPLC), direct sequencing and immunohistochemistry in 32 samples from primary renal clear cell carcinoma patients.
RESULTS
In 32 RCC samples, 17 samples (53.1%) had and 32 samples of adjacent nonmalignant renal tissue had not mutations of VHL gene expression. Twelve RCC samples (70.6%) which had mutations of VHL gene expressed HIF-1alpha, and it had significant difference to 4 RCC (26.7%) samples which didn't have mutations of VHL gene (P < 0.05).
CONCLUSION
Mutations of VHL gene may play a significant role in the tumorigenesis of RCC, and HIF-1alpha expression correlates with it.
目的
评估VHL基因体细胞突变及缺氧诱导因子-1α（HIF-1α）表达在原发性肾透明细胞癌（RCC）中的意义。
方法
采用聚合酶链反应（PCR）、变性高效液相色谱法（DHPLC）、直接测序及免疫组织化学方法，检测32例原发性肾透明细胞癌患者样本中的VHL基因突变及HIF-1α表达情况。
结果
32例RCC样本中，17例（53.1%）存在VHL基因表达突变，而32例癌旁非癌肾组织样本均未出现VHL基因突变。12例（70.6%）发生VHL基因突变的RCC样本表达HIF-1α，与4例（26.7%）未发生VHL基因突变的RCC样本相比，差异有统计学意义（P < 0.05）。
结论
VHL基因突变可能在RCC的肿瘤发生过程中起重要作用，且HIF-1α表达与之相关。
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