Kenck C, Wilhelm M, Bugert P, Staehler G, Kovacs G
Department of Urology, Ruprecht-Karls-University Heidelberg, Germany.
J Pathol. 1996 Jun;179(2):157-61. doi: 10.1002/(SICI)1096-9896(199606)179:2<157::AID-PATH557>3.0.CO;2-S.
To define the possible role of the VHL gene in the development of sporadic renal cell carcinomas, 91 different parenchymal tumours of the kidney have been investigated for mutation of the VHL gene by single strand conformation polymorphism (SSCP) and/or heteroduplex (HD) techniques. Chromosome 3p deletion was detected in 98 per cent of non-papillary renal cell carcinomas and in 25 per cent of chromophobe renal cell carcinomas. In 22 of the 43 non-papillary renal cell carcinomas, abnormally migrating DNA bands were detected by SSCP and/or HD analysis. No mobility shift was seen in any of the 23 chromophobe renal cell carcinomas. In addition, 15 papillary renal cell tumours and ten renal oncocytomas, which are characterized by genetic changes other than loss of chromosome 3p sequences, were analysed for mutation of the VHL gene. None of these tumours showed abnormal migration patterns. The results indicate that mutation of the VHL gene is associated exclusively with the development of non-papillary renal cell carcinoma.
为了明确VHL基因在散发性肾细胞癌发生发展中的可能作用，我们运用单链构象多态性（SSCP）和/或异源双链（HD）技术，对91例不同的肾实质肿瘤进行了VHL基因突变检测。在98%的非乳头状肾细胞癌和25%的嫌色性肾细胞癌中检测到3号染色体短臂缺失。在43例非乳头状肾细胞癌中的22例，通过SSCP和/或HD分析检测到异常迁移的DNA条带。在23例嫌色性肾细胞癌中均未观察到迁移率改变。此外，对15例乳头状肾细胞肿瘤和10例肾嗜酸细胞瘤进行了VHL基因突变分析，这些肿瘤的特征是具有除3号染色体短臂序列缺失以外的基因改变。这些肿瘤均未显示异常迁移模式。结果表明，VHL基因突变仅与非乳头状肾细胞癌的发生有关。
