Evaluation of two mitochondrial DNA biomarkers for prostate cancer detection.


A 3.4kb deletion (3.4kbΔ ) in mitochondrial DNA (mtDNA) found in histologically normal prostate biopsy specimens has been reported to be a biomarker for the increased probability of prostate cancer. Increased mtDNA copy number is also reported as associated with cancer.

Independent evaluation of these two potential prostate cancer biomarkers using formalin-fixed paraffin-embedded (FFPE) prostate tissue and matched urine and serum from a high risk cohort of men with and without prostate cancer.

Biomarker levels were detected via qPCR.

Both 3.4kbΔ and mtDNA levels were significantly higher in cancer patient FFPE cores (p= 0.045 and p= 0.070 respectively at > 90% confidence). Urine from cancer patients contained significantly higher levels of mtDNA (p= 0.006, 64.3% sensitivity, 86.7% specificity). Combining the 3.4kbΔ and mtDNA gave better performance of detecting prostate cancer than either biomarker alone (FFPE 73.7% sensitivity, 65% specificity; urine 64.3% sensitivity, 100% specificity). In serum, there was no difference for any of the biomarkers.

This is the first report on detecting the 3.4kbΔ in urine and evaluating mtDNA levels as a prostate cancer biomarker. A confirmation study with increased sample size and possibly with additional biomarkers would need to be conducted to corroborate and extend these observations.


The following biomarkers make reference to this publication:


The following 2 protocols are associated with this publication:

  • Christudass CS
  • Humphreys EB
  • Isharwal S
  • Lund SP
  • Mangold L
  • Maragh S
  • Partin AW
  • Sorbara L
  • Srivastava S
  • Veltri RW
  • Wagner PD
PubMed ID
Appears In
Cancer Biomark, 2015, 15 (6)