Renal cell carcinoma of end-stage renal disease: an analysis of chromosome 3, 7, and 17 abnormalities by microsatellite amplification.
Renal cell carcinoma of end-stage renal disease: an analysis of chromosome 3, 7, and 17 abnormalities by microsatellite amplification.
复制标题
终末期肾病肾细胞癌：通过微卫星扩增对 3、7 和 17 号染色体异常进行分析。
作者：
M. Hughson;S. Bigler;K. Dickman;G. Kovacs
终末期肾病 (ESRD) 患者患肾癌的风险增加，这被认为是由于乳头状肾细胞癌的发生数量过高所致。本研究旨在发现这些肾癌是否具有 3 号染色体短臂缺失（这是传统（透明细胞）癌的特征），还是 7 号和 17 号染色体三体性（大多数散发性乳头状肾细胞肿瘤的特征）。从 16 名 ESRD 患者身上收集了 17 个含有肾细胞癌的终末期肾脏的档案标本。从肿瘤和非肿瘤组织的石蜡块中提取 DNA。 3、7 和 17 号染色体长臂和短臂上的微卫星在配对的“正常”肿瘤样本中得到扩增。分析杂合位点的杂合性损失（表明缺失）和等位基因比率差异（表明重复）。对 18 个肿瘤（2 个常规癌、14 个乳头状癌、2 个未分类的[实体、嗜酸性细胞]癌）进行了成功的微卫星研究。在乳头状癌中，没有一个存在 3p 缺失，五个具有 7 号和 17 号染色体三体性，六个 7 号和 17 号染色体没有变化，三个具有 7 三体性或 17 三体性，但不是两者都有。两种常规癌之一中存在 3p 缺失。在未分类的癌症中未发现 3、7 或 17 号染色体变化。 18 个 ESRD 肿瘤中有 6 个的基因异常似乎与散发性乳头状或传统肾细胞癌中发现的基因异常相同。 14 例乳头状癌中有 9 例没有显示 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的研究结果不同，表明 ESRD 患者中许多乳头状肾细胞癌发生的遗传机制可能与一般人群不同。
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.