Nagy A, Buzogany I, Kovacs G
Laboratory of Molecular Oncology, Department of Urology, Ruprecht-Karls University, Heidelberg, Germany.
Histopathology. 2004 Jun;44(6):542-6. doi: 10.1111/j.1365-2559.2004.01884.x.
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.
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.
Chromophobe RCCs can be differentiated from ROs by analysing specific chromosomal regions with microsatellites.
基于组织学特征对肾嗜酸细胞瘤（RO）和嫌色肾细胞癌（RCC）进行诊断往往并不确定。为评估基因分析在其鉴别诊断中的价值，我们通过微卫星基因分型对27例RO和21例嫌色RCC进行了分析。
选择了在四种主要类型肾癌的基因改变中特别涉及的染色体短臂和长臂上的标记物。通过自动测序鉴定等位基因变化。26例RO中有8例（31%）发生1号染色体短臂等位基因变化，27例中有4例（15%）发生14号染色体长臂等位基因变化。在嫌色RCC中，分别有90%、90%、96%、86%、85%、90%和72%的病例出现1、2、6、10、13、17和21号染色体杂合性缺失（LOH）。在每例嫌色RCC中均检测到至少三个这些染色体位点的改变。此外，我们在嫌色RCC中发现9号染色体短臂23区（43%）、18号染色体长臂22区（30%）、5号染色体长臂22区（28%）和8号染色体短臂（28%）存在复发性LOH。
通过微卫星分析特定染色体区域，可将嫌色RCC与RO区分开来。
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