Mitochondrial DNA mutations in preneoplastic lesions of the gastrointestinal tract: A biomarker for the early detection of cancer

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• 作者：Guoping Sui (1)
  Shaoyu Zhou (2)
  Jean Wang (3)
  Marcia Canto (3)
  Edward E Lee (6)
  James R Eshleman (1) (4)
  Elizabeth A Montgomery (1)
  David Sidransky (2) (4)
  Joseph A Califano (2) (4)
  Anirban Maitra (1) (4) (5)
  
• 刊名：Molecular Cancer
• 出版年：2006
• 出版时间：December 2006
• 年：2006
• 卷：5
• 期：1
• 全文大小：962KB
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• 作者单位：Guoping Sui (1)
  Shaoyu Zhou (2)
  Jean Wang (3)
  Marcia Canto (3)
  Edward E Lee (6)
  James R Eshleman (1) (4)
  Elizabeth A Montgomery (1)
  David Sidransky (2) (4)
  Joseph A Califano (2) (4)
  Anirban Maitra (1) (4) (5)
  
  1. Department of Pathology, Johns Hopkins University School of Medicine, Washington, DC
  2. Department of Otolaryngology and Head and Neck Surgery, Johns Hopkins University School of Medicine, Washington, DC
  3. Department of Medicine, Johns Hopkins University School of Medicine, Washington, DC
  6. Department of Pathology, Howard University School of Medicine, Washington, DC
  4. Department of Oncology, Johns Hopkins University School of Medicine, Washington, DC
  5. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Washington, DC
  
• ISSN：1476-4598

文摘

Background Somatic mutations of mitochondrial DNA (mtDNA) are common in many human cancers. We have described an oligonucleotide microarray ("MitoChip") for rapid sequencing of the entire mitochondrial genome (Zhou et al, J Mol Diagn 2006), facilitating the analysis of mtDNA mutations in preneoplastic lesions. We examined 14 precancerous lesions, including seven Barrett esophagus biopsies, with or without associated dysplasia; four colorectal adenomas; and three inflammatory colitis-associated dysplasia specimens. In all cases, matched normal tissues from the corresponding site were obtained as germline control. MitoChip analysis was performed on DNA obtained from cryostat-embedded specimens. Results A total of 513,639 bases of mtDNA were sequenced in the 14 samples, with 490,224 bases (95.4%) bases assigned by the automated genotyping software. All preneoplastic lesions examined demonstrated at least one somatic mtDNA sequence alteration. Of the 100 somatic mtDNA alterations observed in the 14 cases, 27 were non-synonymous coding region mutations (i.e., resulting in an amino acid change), 36 were synonymous, and 37 involved non-coding mtDNA. Overall, somatic alterations most commonly involved the COI, ND4 and ND5 genes. Notably, somatic mtDNA alterations were observed in preneoplastic lesions of the gastrointestinal tract even in the absence of histopathologic evidence of dysplasia, suggesting that the mitochondrial genome is susceptible at the earliest stages of multistep cancer progression. Conclusion Our findings further substantiate the rationale for exploring the mitochondrial genome as a biomarker for the early diagnosis of cancer, and confirm the utility of a high-throughput array-based platform for this purpose from a clinical applicability standpoint.