Genetic analysis of multiple sproradic renal call carcinoma

散发性多发性肾细胞癌的克隆性尚不清楚。通过VHL抑癌基因的突变分析，比较了多种肿瘤的遗传背景。此外，比较基因组杂交（CGH）被用来研究遗传差异。本文报告4例肾细胞癌的主瘤和卫星瘤。在患者#1中，在主肿瘤中未检测到VHL基因突变，然而，在卫星肿瘤中在密码子167（CGC→CCG;精氨酸→脯氨酸）中检测到错义突变。在患者#2中，在主肿瘤中未检测到VHL基因突变，然而，在卫星肿瘤中在密码子185（TAC→TAG;酪氨酸→终止密码子）中检测到无义突变。在患者#3中，在主肿瘤的密码子133中检测到一个碱基缺失，然而，在卫星肿瘤中未检测到VHL基因突变。在患者#4中，在主肿瘤和卫星肿瘤中均未检测到VHL基因突变。总之，在主肿瘤和卫星肿瘤中均未检测到共同突变，这表明多发性肾细胞癌的克隆性不同。CGH的结果支持这一观点，因为主瘤和卫星瘤之间的共同异常是罕见的。

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.