Mitochondrial genome deletion aids in the identification of false- and true-negative prostate needle core biopsy specimens.


We report the usefulness of a 3.4-kb mitochondrial genome deletion (3.4 mtdelta) for molecular definition of benign, malignant, and proximal to malignant (PTM) prostate needle biopsy specimens. The 3.4 mtdelta was identified through long-extension polymerase chain reaction (PCR) analysis of frozen prostate cancer samples. A quantitative PCR assay was developed to measure the levels of the 3.4 mtdelta in clinical samples. For normalization, amplifications of a nuclear target and total mitochondrial DNA were included. Cycle threshold data from these targets were used to calculate a score for each biopsy sample. In a pilot study of 38 benign, 29 malignant, and 41 PTM biopsy specimens, the difference between benign and malignant core biopsy specimens was well differentiated (P & .0001), with PTM indistinguishable from malignant samples (P = .833). Results of a larger study were identical. In comparison with histopathologic examination for benign and malignant samples, the sensitivity and specificity were 80% and 71%, respectively, and the area under a receiver operating characteristic (ROC) curve was 0.83 for the deletion. In a blinded external validation study, the sensitivity and specificity were 83% and 79%, and the area under the ROC curve was 0.87. The 3.4 mtdelta may be useful in defining malignant, benign, and PTM prostate tissues.


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  • Aguirre A
  • Alexander J
  • Dakubo GD
  • Diamandis EP
  • Escott N
  • Froberg MK
  • Jakupciak JP
  • Maki J
  • Maragh S
  • Parr RL
  • Prowse O
  • Reguly B
  • Robinson K
  • Skehan A
  • Srivastava S
  • Thayer RE
  • Wagner PD
  • Wilson MJ
  • Wittock R
PubMed ID
Appears In
Am J Clin Pathol, 2008, 129 (1)