title: Mutations of the D310 mitochondrial mononucleotide repeat in primary tumors and cytological specimens.
abstract: A mononucleotide repeat (D310) in mitochondrial DNA has been recently identified as a mutational hot spot in primary tumors. We analyzed 56 tumors for insertion/deletion mutations in the D310 repeat. A total of 13 mutations were detected. The highest frequency of mutations was found for cervical cancer, followed by bladder tumors, breast cancer and endometrial neoplasia. No alterations were observed in four patients suspected of malignancy but without evidence of malignant tumor. We detected identical changes in four of four urine sediments from patients with bladder cancer and in three of three fine needle aspirates of patients with breast cancer. Our results indicate that D310 abnormalities are detectable in cytology specimens from patients with cancer and support the notion that D310 analysis may represent a new molecular tool for cancer detection.
authors.affiliation: Laboratory of Molecular Pathology and Gene Therapy, IRCCS H. Casa Sollievo della Sofferenza, Viale Cappuccini 1, I-71013 San Giovanni Rotondo (FG), Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Parrella
authors.forename: Davide
authors.initials: D
authors.lastname: Seripa
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Matera
authors.forename: Carla
authors.initials: C
authors.lastname: Rabitti
authors.forename: Monica
authors.initials: M
authors.lastname: Rinaldi
authors.forename: Paola
authors.initials: P
authors.lastname: Mazzarelli
authors.forename: Carolina
authors.initials: C
authors.lastname: Gravina
authors.forename: Michele
authors.initials: M
authors.lastname: Gallucci
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Altomare
authors.forename: Gerardo
authors.initials: G
authors.lastname: Flammia
authors.forename: Beniamino
authors.initials: B
authors.lastname: Casalino
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Benedetti-Panici
authors.forename: Vito M
authors.initials: VM
authors.lastname: Fazio
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics; D002277:Carcinoma / Q000235:genetics*; D002295:Carcinoma, Transitional Cell / Q000235:genetics*; D004247:DNA / Q000378:metabolism; D004272:DNA, Mitochondrial; D016889:Endometrial Neoplasms / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D008928:Mitochondria / Q000378:metabolism*; D009154:Mutation; D009369:Neoplasms / Q000235:genetics* / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D016622:Silver Staining; D001749:Urinary Bladder Neoplasms / Q000235:genetics; D002583:Uterine Cervical Neoplasms / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA