Laboratory of Molecular Oncology, Medical Faculty, Ruprecht-Karls-University, Im Neuenheimer Feld 325, D-69120 Heidelberg, Germany.
Hum Pathol. 2010 Sep;41(9):1345-9. doi: 10.1016/j.humpath.2009.09.022. Epub 2010 Jun 20.
Renal cell carcinoma occurs at higher frequency in acquired cystic renal disease than in the general population. We have analyzed 4 tumors obtained from the kidneys of 2 patients with acquired cystic renal disease, including 2 conventional renal cell carcinomas and 2 acquired cystic renal disease-associated tumors, for genetic alterations. DNA changes were established by applying the 44K Agilent Oligonucleotide Array-Based CGH (Agilent Technologies, Waldbronn, Germany), and mutation of VHL gene was detected by direct sequencing of the tumor genome. DNA losses and mutation of the VHL gene, which are characteristic for conventional renal cell carcinomas, were seen in 2 of the tumors. The acquired cystic renal disease-associated eosinophilic-vacuolated cell tumor showed gain of chromosomes 3 and 16. No DNA alterations occurred in the papillary clear cell tumor. We suggest that not only the morphology but also the genetics of renal cell tumors associated with acquired cystic renal disease may differ from those occurring in the general population.
肾细胞癌在获得性囊性肾病中的发生率高于普通人群。我们分析了 2 例获得性囊性肾病患者肾脏中获得的 4 个肿瘤,包括 2 个传统的肾细胞癌和 2 个获得性囊性肾病相关肿瘤,以研究其遗传改变。通过应用 44K Agilent 寡核苷酸微阵列 CGH(德国瓦尔德布隆的安捷伦科技公司)确定了 DNA 变化,并通过肿瘤基因组的直接测序检测 VHL 基因突变。2 个肿瘤中出现了传统肾细胞癌的特征性 DNA 缺失和 VHL 基因突变。获得性囊性肾病相关嗜酸性空泡细胞肿瘤显示染色体 3 和 16 的获得。乳头状透明细胞肿瘤未发生 DNA 改变。我们认为,与普通人群相比,不仅形态学,而且与获得性囊性肾病相关的肾细胞肿瘤的遗传学也可能不同。