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Somatic mitochondrial DNA mutations in human chromophobe renal cell carcinomas
Author(s) -
Nagy Anetta,
Wilhelm Monica,
Sükösd Farkas,
Ljungberg Börje,
Kovacs Gyula
Publication year - 2002
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.10118
Subject(s) - heteroplasmy , biology , frameshift mutation , chromophobe cell , somatic cell , microbiology and biotechnology , carcinogenesis , genetics , gene , mitochondrial dna , mutation , cancer research , clear cell , carcinoma
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. © 2002 Wiley‐Liss, Inc.