Mutations of the D310 mitochondrial mononucleotide repeat in primary tumors and cytological specimens

Paola Parrella, Davide Seripa, Maria Giovanna Matera, Carla Rabitti, Monica Rinaldi, Paola Mazzarelli, Carolina Gravina, Michele Gallucci, Vincenzo Altomare, Gerardo Flammia, Beniamino Casalino, Pier Luigi Benedetti-Panici, Vito M. Fazio

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)73-77
Number of pages5
JournalCancer Letters
Issue number1
Publication statusPublished - Feb 10 2003


  • Breast cancer
  • Cervical carcinoma
  • D310
  • Diagnosis
  • Mitochondrial genome
  • Mutation
  • Transitional cell carcinoma

ASJC Scopus subject areas

  • Cancer Research
  • Molecular Biology
  • Oncology


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