Somatic mitochondrial DNA mutations in human chromophobe renal cell carcinomas

Genes Chromosomes Cancer. 2002 Nov;35(3):256-60. doi: 10.1002/gcc.10118.


We sequenced the entire mitochondrial genome in 8 chromophobe renal cell carcinomas (RCCs) and corresponding normal kidneys. Our study disclosed 68 known and 45 new sequence variations occurring 132 and 45 times, respectively. We found 6 somatic nucleotide changes in 5 out of the 8 chromophobe RCCs. One A --> T substitution occurred in the D-loop region and an insertion of a 9-bp sequence in the noncoding region of the MTNC7. One G --> A substitution and one C --> T substitution were seen in the MTRNR1 and MTRNR2 genes, respectively. One C deletion in MTND5 and one T insertion in the MTND3 gene resulted in frameshift mutations in two tumors. All somatic alterations, with the exception of the 9-bp insertion, were heteroplasmic changes. Although somatic mtDNA mutations are found in chromophobe RCCs, their role in the maintenance of tumor cell phenotype or in tumorigenesis remains to be elucidated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • DNA, Neoplasm / genetics*
  • Genes, Neoplasm / genetics
  • Genetic Variation / genetics
  • Germ-Line Mutation / genetics
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Mitochondria / genetics
  • Mitochondria / pathology
  • Mutation / genetics*
  • Phenotype


  • DNA, Mitochondrial
  • DNA, Neoplasm