Microsatellite allelotyping differentiates chromophobe renal cell carcinomas from renal oncocytomas and identifies new genetic changes
Microsatellite allelotyping differentiates chromophobe renal cell carcinomas from renal oncocytomas and identifies new genetic changes
复制标题
DOI：
10.1111/j.1365-2559.2004.01884.x
复制
发表时间：
2004-06-01
期刊：
影响因子：
6.4
通讯作者：
Kovacs, G
中科院分区：
文献类型：
--
作者：
Nagy, A;Buzogany, I;Kovacs, G
目的：肾嗜酸细胞瘤（RO）和嫌色细胞肾细胞癌（RCC）的诊断往往是不确定的组织学特征的基础上。为了评估其鉴别诊断的遗传分析的价值，我们分析了27 RO和21嫌色RCCs的微卫星allelotyping.Methods和结果：在短臂和长臂的染色体特异性参与的四种主要类型的肾癌的遗传变化的标记进行了选择。通过自动测序鉴定等位基因变化。等位基因改变发生在染色体1 p的8/26（31%）和染色体14 q的4/27（15%）RO。嫌色细胞癌1、2、6、10、13、17和21号染色体的杂合性丢失（洛）率分别为90%、90%、96%、86%、85%、90%和72%。在每个嫌色细胞RCC中检测到至少三个染色体位点的改变。此外，在嫌色细胞癌中发现了染色体9 p23（43%）、18 q22（30%）、5 q22（28%）和8 p（28%）的重复性洛缺失。
Aims: The diagnosis of renal oncocytomas (ROs) and chromophobe renal cell carcinomas (RCCs) based on histological features is often uncertain. To assess the value of genetic analysis in their differential diagnosis we analysed 27 ROs and 21 chromophobe RCCs by microsatellite allelotyping.Methods and results: Markers at the short and long arms of chromosomes specifically involved in the genetic changes of the four main types of renal cancers were selected. Allelic changes were identified by automated sequencing. Allelic changes at chromosome 1p occurred in 8/26 (31%) and at chromosome 14q in 4/27 (15%) ROs. Loss of heterozygosity (LOH) at chromosomes 1, 2, 6, 10, 13, 17 and 21 were seen in 90%, 90%, 96%, 86%, 85%, 90% and 72% of the chromophobe RCCs, respectively. Alterations of at least three of these chromosomal sites were detected in each chromophobe RCC. In addition, we found recurrent LOH at chromosomes 9p23 (43%), 18q22 (30%), 5q22 (28%) and 8p (28%) in chromophobe RCCs.Conclusions: Chromophobe RCCs can be differentiated from ROs by analysing specific chromosomal regions with microsatellites.