Mitochondrial DNA copy number variation as a potential predictor of renal cell carcinoma

作者：Elsayed Eman T; Hashad Mohamed M; Elgohary Iman E

来源：International Journal of Biological Markers, 2017, 32(3): E313-E318.

DOI：10.5301/ijbm.5000268

• Mitochondrial DNA
• Noninvasive biomarker
• Real-time PCR
• Renal cell carcinoma

Background: Peripheral blood mitochondrial DNA (mtDNA) copy number alteration has been suggested as a risk factor for several types of cancer. The aim of the present study was to assess the role of peripheral blood mtDNA copy number variation as a noninvasive biomarker in the prediction and early detection of renal cell carcinoma (RCC) in a cohort of Egyptian patients.
Methods: Quantitative real-time polymerase chain reaction (qPCR) was used to measure peripheral blood mtDNA copy numbers in 57 patients with newly diagnosed, early-stage localized RCC and 60 age-and sex-matched healthy individuals as a control group.
Results: Median mtDNA copy number was significantly higher in RCC cases than in controls (166 vs. 91, p<0.001). Increased mtDNA copy number was associated with an 18-fold increased risk of RCC (95% confidence interval: 5.065-63.9). On receiver operating characteristic curve analysis, it was found that mtDNA could distinguish between RCC patients and healthy controls, with 86% sensitivity, 80% specificity, 80.3% positive predictive value and 85.7% negative predictive value at a cutoff value of 108.5.
Conclusions: Our results showed that increased peripheral blood mtDNA copy number was associated with increased risk of RCC. Therefore, RCC might be considered as part of a range of potential tumors in cases with elevated blood mtDNA copy number.

• 出版日期2017-9