Patients with adenomatous polyps have a threefold higher risk of colon cancer over the general population, which increases to sixfold if the polyps are multiple and with lower survival among African American population. Up to now, only 6% of CRC can be ascribed to mutations in particular genes. Moreover, the optimal management of patients with colorectal adenomatous polyps depends on the accuracy of appropriate staging strategies because patients with similar colorectal adenocarcinoma architecture display heterogeneity in the course and outcome of the disease. In this study, using high resolution restriction endonucleases and PCR-based sequencing, we have potentially identified some distinctive mitochondrial DNA restriction sites and sequence polymorphisms that distinguished variants among colorectal adenomatous polyps and between pre-cancer and carcinoma in the regions of ND, CYTO b, ATPase and COX genes. The distribution of some of the observed mtDNA sequence variants includes:0% (0/161) tubular, 1.2% (12/161) tubulovillous, 54% (87/161) villous, and 94.4% (152/161) cancer . The restriction analysis, using HINC II enzyme, identified a number of band shifts indicating site gains or losses in differentiating between colorectal adenomatous polyps and cancer. Results are the first study to systemic survey mitochondrial genome alterations on the pathology and clinical significance of colonic adenocarcinoma with villous architecture. This abstract was supported by NIH-NIGMS # GM099663.
Citation Format: Felix O. Aikhionbare, Sharifeh Mehrabi, Shakeria Cohen, Xuebiao Yao, Osatohamwen Iyamu. Colorectal adenomatous polyps and mitochondrial DNA variants. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 1851. doi:10.1158/1538-7445.AM2014-1851