title: Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations.
abstract: 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.
authors.affiliation: Second Department of Gynecology, Lublin University School of Medicine, 20-954 Lublin, Poland. andrzej.semczuk@am.lublin.pl
authors.forename: Andrzej
authors.initials: A
authors.lastname: Semczuk
authors.forename: Anna
authors.initials: A
authors.lastname: Lorenc
authors.forename: Lechoslaw
authors.initials: L
authors.lastname: Putowski
authors.forename: Konrad
authors.initials: K
authors.lastname: Futyma
authors.forename: Jaroslaw
authors.initials: J
authors.lastname: Bryk
authors.forename: Pawel
authors.initials: P
authors.lastname: Miotla
authors.forename: Ewa
authors.initials: E
authors.lastname: Bartnik
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004272:DNA, Mitochondrial / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D018572:Disease-Free Survival; D004714:Endometrial Hyperplasia / Q000235:genetics / Q000473:pathology / Q000601:surgery; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity; D008875:Middle Aged; D009154:Mutation; D018203:Sarcoma, Endometrial Stromal / Q000235:genetics / Q000473:pathology / Q000601:surgery
chemical_list: D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm