Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations

Somatic mitochondrial DNA (mtDNA) mutations
have been found in a subset of endometrial cancers (EC) from
different populations. We have investigated the relationship
between mtDNA changes and clinical and pathological
variables of women affected by EC. mtDNA mutations were
detected both in early (3/32; 9%) and in advanced (1/8;
12%) stages of uterine tumors. However, patients carrying
the mtDNA mutations or the normal mtDNA sequence had
indistinguishable clinicopathological data, including age,
clinical stage, histological grade and type or depth of myometrial
invasion. It is noteworthy that mtDNA mutations
were not detected in hyperplastic endometrial tissues or in
ECs coexisting with hyperplasia, nor in a single case of
endometrial stromal sarcoma. LOH at the tumor suppressor
genes RB1 and TP53 as well as p16INK4A alterations (LOH,
gene deletion) were found in tumors carrying mtDNA
mutations. These results suggest that somatic mtDNA
mutations are detected in a subset of ECs, although they are
unrelated to clinicopathological variables of cancer.