Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as risk biomarkers for malignant fibrous histiocytoma

Single nucleotide polymorphisms (SNPs) in the mitochondrial DNA Displacement-loop (D-loop) region particularly in a highly polymorphic homopolymeric C stretch named D310 have been reported to be associated with cancer risk in several types of cancer. In order to evaluate the frequency of D-loop SNPs in a large series of malignant fibrous histiocytoma (MFH) and establish correlations with cancer risk, we sequenced the D-loop of 92 MFH patients and analyzed their use as predictive biomarkers for MFH risk. The minor alleles of nucleotides 73G, 151T were associated with an increased risk for MFH patients, whereas the alleles of nucleotides 16,298C, 152C, and insertion of C at the site 315 (located within the D310) were associated with a decreased risk for MFH patients. These results suggest that SNPs in the mitochondrial D-loop should be considered as a biomarker which may be useful for the early detection of MFH in individuals at risk of this cancer.