Mitochondrial DNA Mutation in Normal Margins and Tumors of Recurrent Head and Neck Squamous Cell Carcinoma Patients

作者: Santanu Dasgupta , Rachel Koch , William H. Westra , Joseph A. Califano , Patrick K. Ha

DOI: 10.1158/1940-6207.CAPR-10-0018

关键词:

摘要: Mitochondrial DNA (mtDNA) mutations were reported in primary head and neck squamous cell carcinoma (HNSCC) patients. However, very little information is available on the mtDNA mutation pattern histologically negative surgical margins tumors of HNSCC patients who experienced tumor recurrence. The present study aimed at understanding nature timing margins, developed local recurrence during follow-ups. entire 16.5-kb mitochondrial genome was sequenced matched normal lymphocytes, 50 recurrent then compared with clinical parameters. Forty-eight percent (24 50) harbored least one somatic tumor, a total 37 detected. mostly heteroplasmic nucleotide transitions (A↔G; T↔C). Forty-six (17 37) detected also detectable corresponding margin involved both coding noncoding regions mtDNA. majority (9 17, 53%) tRNAs. Seventy-five (15 20) nonsynonymous mainly affected cytochrome c oxidase (Complex IV), frequently altered different human diseases including cancer. Analysis could be an invaluable tool for molecular assessment as well monitoring locoregional recurrences.

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