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目的了解散发性肾透明细胞癌组织中VHL(VonHippel-Lindau)基因突变率及其临床意义。材料与方法提取28例1998年4月~2000年1月间手术并获得病理诊断的散发性肾透明细胞癌及远离肿瘤的正常肾组织基因组DNA,采用单链构象多态性(SSCP)分析明确是否存在VHL基因有突变,分析VHL基因突变与肿瘤体积、分期、分级以及患者生存率等的关系。结果远离肿瘤的正常肾组织中未检测到VHL基因的突变,10例(35·7%)癌组织标本中存在VHL基因的突变。VHL基因的突变率在T1a与T1b~T3间存在显著差异(P=0·035),肿瘤最大径4cm及以下者VHL基因突变率显著高于4cm以上者(P=0·011)。伴随VHL基因突变的患者5年生存率为100%,不伴随VHL基因突变者5年生存率为83%。结论散发性肾透明细胞癌肿瘤组织中存在VHL基因突变,VHL基因突变较多发生于肿瘤的早期,VHL基因突变可能是肾透明细胞癌的有利预后因素。
Objective To investigate the mutation rate of Von Hippel-Lindau gene in sporadic renal clear cell carcinoma and its clinical significance. MATERIALS AND METHODS Genomic DNA from 28 cases of sporadic renal clear cell carcinoma and normal kidney tissue far away from the tumor, which were surgically and pathologically diagnosed between April 1998 and January 2000, were extracted and confirmed by single strand conformation polymorphism (SSCP) Whether there are mutations in the VHL gene, analysis of VHL gene mutations and tumor volume, staging, grading, and patient survival rates. Results No mutation of VHL gene was detected in the normal renal tissues away from the tumor. The mutation of VHL gene was found in 10 cases (35.7%) of the cancerous tissues. The mutation rate of VHL gene was significantly different between T1a and T1b ~ T3 (P = 0 · 035). The mutation rate of VHL gene was significantly higher than 4cm (P = 0.011) in tumor with the largest diameter of 4cm and below. The 5-year survival rate was 100% in patients with VHL mutations and 83% in patients without VHL mutations. Conclusions VHL gene mutation exists in sporadic renal clear cell carcinoma. VHL gene mutation occurs more frequently in the early stage of tumor. The mutation of VHL gene may be a favorable prognostic factor for renal clear cell carcinoma.