Mitochondrial mutations in early stage prostate cancer and bodily fluids

We recently demonstrated the existence of specific patterns of somatic mito chondrial DNA (mtDNA) mutations in several cancers. Here we sought to ident ify the presence of mtDNA mutations in prostate cancer an their paired PIN lesions. The D-loop region, 16S rRNA, and the NADH subunits of complex I we re sequenced to identify mtDNA mutations in 16 matched PIN lesions and prim ary prostate cancers. Twenty mtDNA mutations were detected in the tumor tis sue of three patients. Identical mutations were also identified in the PIN lesion from one patient. This patient with multiple point mutations also ha rbored a high frequency of microsatellite instability (MSI-H) in nuclear mo nonucleotide repeat markers. Remarkably, identical mutations were also dete cted in all (3/3) matched urine and plasma samples obtained from these pati ents. Although mitochondrial mutations are less common in prostate adenocar einoma, they occur early in cancer progression and they can be detected in bodily fluids of early stage disease patients. The identification of MtDNA mutations may complement other early detection approaches for prostate canc er.