Hughson M D, Bigler S, Dickman K, Kovacs G
Research Service, Department of Veterans Affairs Medical Center, Northport, New York, USA.
Mod Pathol. 1999 Mar;12(3):301-9.
End-stage renal disease (ESRD) patients have an increased risk of carcinoma of the kidney, thought to result from development of a disproportionately high number of papillary renal cell carcinomas. This study was undertaken to discover whether these renal carcinomas have a deletion of the short arm of chromosome 3, which characterizes conventional (clear cell) carcinomas, or trisomies of chromosomes 7 and 17, which characterize the majority of sporadic papillary renal cell neoplasms. Archival specimens from 17 end-stage kidneys containing renal cell carcinomas were collected from 16 ESRD patients. DNA was extracted from paraffin blocks of tumor and nontumorous tissue. Microsatellites on the long and short arm of chromosomes 3, 7, and 17 were amplified in paired "normal" tumor samples. Heterozygous loci were analyzed for loss of heterozygosity, indicating a deletion, and for allele ratio differences, indicating a duplication. Successful microsatellite studies were obtained on 18 tumors (2 conventional carcinomas, 14 papillary carcinomas, 2 unclassified [solid, eosinophilic cell] carcinomas). Of the papillary carcinomas, none had a 3p deletion, five had trisomies of both chromosomes 7 and 17, six had no changes in chromosomes 7 and 17, and three had either trisomy 7 or trisomy 17 but not both. A 3p deletion was present in one of two conventional carcinomas. No chromosome 3, 7, or 17 changes were identified in the unclassified carcinomas. The genetic abnormalities in 6 of 18 ESRD tumors seemed to be the same as those found in sporadic papillary or conventional renal cell carcinomas. Nine of 14 papillary carcinomas did not show allelic duplications of chromosomes 7 and 17. This is uncharacteristic of the findings reported for most of the sporadic forms of the neoplasm and suggests that the genetic mechanism underlying the development of many papillary renal cell carcinomas in ESRD patients might be different than that of the general population.
终末期肾病（ESRD）患者患肾癌的风险增加，这被认为是由于大量乳头状肾细胞癌的发展所致。本研究旨在探究这些肾癌是否存在3号染色体短臂缺失（这是传统型[透明细胞]癌的特征），或者是否存在7号和17号染色体三体性（这是大多数散发性乳头状肾细胞肿瘤的特征）。从16例ESRD患者中收集了17个含有肾细胞癌的终末期肾脏的存档标本。从肿瘤和非肿瘤组织的石蜡块中提取DNA。在配对的“正常”肿瘤样本中扩增3号、7号和17号染色体长臂和短臂上的微卫星。分析杂合位点的杂合性缺失（表明存在缺失）以及等位基因比例差异（表明存在重复）。对18个肿瘤（2例传统型癌、14例乳头状癌、2例未分类[实性、嗜酸性细胞]癌）成功进行了微卫星研究。在乳头状癌中，无一例存在3p缺失，5例同时存在7号和17号染色体三体性，6例7号和17号染色体无变化，3例仅存在7号或17号染色体三体性但非两者同时存在。2例传统型癌中有1例存在3p缺失。未分类的癌中未发现3号、7号或17号染色体变化。18例ESRD肿瘤中有6例的基因异常似乎与散发性乳头状或传统型肾细胞癌中发现的异常相同。14例乳头状癌中有9例未显示7号和17号染色体的等位基因重复。这与大多数散发性肿瘤形式所报道的结果不同，表明ESRD患者中许多乳头状肾细胞癌发生发展的遗传机制可能与普通人群不同。
