Abstract

Renal oncocytoma account for 3 to 7% of primary renal tumors. It is usually diagnosed incidentally and typically has a benign behavior. No currently used imaging techniques can reliably distinguish it from malignant lesions. Similarly, the microscopic diagnosis of oncocytoma remains a challenge. We present a case of an asymptomatic elderly, hypertensive, diabetic and with moderate chronic renal insufficiency, who underwent radical nephrectomy for a solid exophytic lesion of 4.7 cm in the renal pole, detected accidentally. Pathological examination revealed a renal oncocytoma. In this situation, partial nephrectomy would be the preferred surgical treatment, avoiding the long‐term risk of living with a single kidney. The lack of diagnostic tools that reliably differentiate between benign and malignant lesions makes this an important area of study, in order to reduce the number of surgical interventions and the associated morbidity.

Abstract

Renal cell tumors comprise both benign – oncocytoma – and malignant – clear cell renal cell carcinoma, papillary renal cell carcinoma, and chromophobe renal cell carcinoma – entities. Since the differential diagnosis among renal cell tumors is sometimes difficult on clinical, imaging and pathological grounds, and prognosis is quite dissimilar, epigenetic-based diagnostic biomarkers, specially promoter methylation, might be useful for accurate diagnosis and therapeutic planning. EpiTect Methyl II PCR Array was used to screen methylation status of 22 genes, involved in epithelial to mesenchymal transition. Quantitative real-time methylation specific polymerase chain reaction was performed for candidate gene validation, and methylation levels of renal cell tumors subtypes and normal kidney were determined and compared. MST1R promoter methylation level was significantly higher in clear cell renal cell carcinoma (median: 5367) compared to other renal cell tumors (median: papillary renal cell carcinoma – 1084, chromophobe renal cell carcinoma – 1023, oncocytoma – 1337) and normal kidney (median: 1125), allowing for accurate discrimination from other renal cell tumors with high sensitivity (>96.7%) and specificity (86.7%). Quantitative MST1R promoter methylation may be useful as biomarker for accurate diagnosis of clear cell renal cell carcinoma in problematic cases.