Genetic analysis of multiple sproradic renal call carcinoma

散发性多肾细胞癌的克隆性尚不清楚。我们通过对VHL肿瘤抑制基因的突变分析，比较了多发肿瘤的遗传背景。此外，采用比较基因组杂交（CGH）研究遗传差异。本文对4例肾细胞癌的主瘤和伴瘤进行了研究。患者1主肿瘤未检出VHL基因突变，而伴发肿瘤167密码子（CGC→CCG； Arginme→脯氨酸）出现错义突变。患者2主肿瘤未检出VHL基因突变，而伴发肿瘤密码子185 （TAC→TAG； Tyrosine→停止密码子）无义突变。在患者#3中，在主肿瘤的密码子133中检测到一个碱基缺失，而在卫星肿瘤中未检测到VHL基因突变。在患者#4中，主肿瘤和伴发肿瘤均未检测到VHL基因突变，综上所述，主肿瘤和伴发肿瘤均未检测到共同突变，提示多肾细胞癌的克隆性不同。CGH的结果支持了这一观点，因为主要肿瘤和附属肿瘤之间罕见的共同异常。

The clonality of sporadic multiple renal cell carcinomas are unknown. We compared the genetic background of the multiple tumors by the mutation analyses of von Hippel Lindau (VHL) tumor suppressor gene. Furthermore, comparative genomic hybridization (CGH) was used to investigate genetic differences. The main tumor and the satellite tumor of four patients with renal cell carcinomas were investigated. In patient #1, no mutation of VHL gene was detected in the main tumor, however, missense mutation was detected in codon 167 (CGC→CCG; Arginme→Proline) in the satellite tumor. In patient #2, no mutation of VHL gene was detected in the main tumor, however, nonsense mutation was detected in codon 185 (TAC→TAG; Tyrosine→stop codon) in the satellite tumor. In patient #3, one base deletion was detected in codon 133 in the main tumor, however, no mutation of VHL gene was detected in the satellite tumor. In patient #4, no mutation of VHL gene was detected both in the main tumor and the satellite tumor, In summary, no common mutation in both the main and the satellite tumor was detected, which suggests clonality of multiple renal cell carcinomas are different. The result of the CGH supports the idea because common abnormality is rare between the main tumors and the satellite tumors.