Abstract

BackgroundRenal oncocytoma, a benign tumour of the kidney, may pose a differential diagnostic problem due to overlapping phenotype with chromophobe renal cell carcinoma or other types of renal cell tumours. Therefore, identification of molecular markers would be of great value for molecular diagnostics of this tumour type.MethodsIn the current study we applied various techniques, including Affymetrix microarray hybridization and semiquantitative RT-PCR, to identify genes expressed differentially in renal oncocytomas. Subsequently, we used RACE and Northern blot hybridization to characterize the potential candidates for molecular diagnosis.ResultsWe have identified new isoform of DLG2 gene, which contains 3'-end exons of the known DLG2 gene along with the hypothetical gene FLJ37266. The new isoform is specifically upregulated in renal oncocytoma, whereas the known DLG2 gene is downregulated in this type of kidney tumour.ConclusionThe new isoform of DLG2 is the promising candidate gene for molecular differential diagnostics of renal oncocytoma.

Highlights

  • Renal oncocytoma, a benign tumour of the kidney, may pose a differential diagnostic problem due to overlapping phenotype with chromophobe renal cell carcinoma or other types of renal cell tumours

  • Positive staining with Hale's colloidal iron stain and the presence of cytoplasmic vesicles are considered to be diagnostic features for, but it is not limited to chromophobe renal cell carcinoma (chRCC) [1,2,3]

  • Differential expression of FLJ37266 and DLG2 genes in Renal oncocytoma (RO) The expression profiling with Affymetrix GeneChip array revealed a high number of genes expressed in both ROs and chRCCs, but only few genes expressed exclusively in RO

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Summary

Introduction

A benign tumour of the kidney, may pose a differential diagnostic problem due to overlapping phenotype with chromophobe renal cell carcinoma or other types of renal cell tumours. A typical RO shows a nested or acinar growth of polygonal cells with central small nuclei and abundant eosinophilic granular cytoplasm when stained with H&E. RO as well as the malignant chromophobe renal cell carcinoma (chRCC) may display tubulary, cystic or papillary growth pattern and the cellular characteristics may vary from small cells with scanty cytoplasma through large eosinophilic granular to "clear" pale cells even within the same tumour. An overlapping cytological and growth pattern may be seen in other malignant renal cell tumours such as conventional RCC (cRCC) and papillary RCC (pRCC)

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