Molecular genetic diagnostics of clear cell renal cell carcinoma

Background. On the pace of growth in Russia, renal carcinoma takes the 1st place. Approximately one third of patients at time of diagnosis have distant metastases, and relapse of the disease occurs in 30–40 %. Renal carcinoma does not manifest until later stage of the disease. More than in 50 % of cases renal carcinoma is revealed occasionally. Therefore, development of methods for quick and efficient diagnosis of the tumor is actual.

Materials and methods. The level of messenger RNA expression for several genes was studied in the surgical material of paired samples (normal tissue and a malignant renal carcinoma). Quantification of gene expression was performed by using real-time polymerase chain reaction on Step One Plus instrument (Applied Biosystems, USA) by using TaqMan® Gene Expression Assays kits (Applied Biosystems, USA).

Results. As a result of screening analysis of 200 genes expression in paired samples of renal carcinoma/normal renal tissue we selected 5 genes showing the highest frequency of increased expression in stages I–III of the development of clear renal cell carcinoma: CA9, EGLN3, HIG2, NDUFA4L2, STC2.

Conclusion. As a result of the expression study we developed a new panel, including CA9, HIG2 and STC2 genes which has high sensitivity (96.8 %) and specificity (92.9 %) for differential diagnosis of the early clear cell renal cell carcinoma on the basis of determining the level of messenger RNA expression by real-time polymerase chain reaction. This approach allows you to diagnose clear cell renal cell carcinoma quickly (within 1 day), and differentiate it from other types of renal cell cancer. In addition, it opens the possibility of non-invasive diagnosis of renal carcinoma in the future.