Next Article in Journal
Molecular and Cellular Mechanisms of Aging and Age-related Disorders
Next Article in Special Issue
Establishment and Characterization of the Novel High-Grade Serous Ovarian Cancer Cell Line OVPA8
Previous Article in Journal
Pharmacokinetic Comparisons of Multiple Triterpenic Acids from Jujubae Fructus Extract Following Oral Delivery in Normal and Acute Liver Injury Rats
Previous Article in Special Issue
Mucins and Truncated O-Glycans Unveil Phenotypic Discrepancies between Serous Ovarian Cancer Cell Lines and Primary Tumours
Article Menu
Issue 7 (July) cover image

Export Article

Open AccessReview
Int. J. Mol. Sci. 2018, 19(7), 2048;

Potential for Mitochondrial DNA Sequencing in the Differential Diagnosis of Gynaecological Malignancies

Unit of Oncologic Gynecology, Sant Orsola-Malpighi Hospital, via Massarenti 13, 40138 Bologna, Italy
Unit of Medical Genetics, Department of Medical and Surgical Sciences (DIMEC), Sant Orsola Hospital, Pav.11, via Massarenti 9, 40138 Bologna, Italy
Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40138 Bologna, Italy
Center for Applied Biomedical Research (CRBA), University of Bologna, 40138 Bologna, Italy
These authors contributed equally to this work.
Authors to whom correspondence should be addressed.
Received: 22 May 2018 / Revised: 10 July 2018 / Accepted: 11 July 2018 / Published: 13 July 2018
(This article belongs to the Special Issue Ovarian Cancer: Pathogenesis, Diagnosis, and Treatment)
Full-Text   |   PDF [485 KB, uploaded 13 July 2018]   |  


In the event of multiple synchronous gynecological lesions, a fundamental piece of information to determine patient management, prognosis, and therapeutic regimen choice is whether the simultaneous malignancies arise independently or as a result of metastatic dissemination. An example of synchronous primary tumors of the female genital tract most frequently described are ovarian and endometrial cancers. Surgical findings and histopathological examination aimed at resolving this conundrum may be aided by molecular analyses, although they are too often inconclusive. High mitochondrial DNA (mtDNA) variability and its propensity to accumulate mutations has been proposed by our group as a tool to define clonality. We showed mtDNA sequencing to be informative in synchronous primary ovarian and endometrial cancer, detecting tumor-specific mutations in both lesions, ruling out independence of the two neoplasms, and indicating clonality. Furthermore, we tested this method in another frequent simultaneously detected gynecological lesion type, borderline ovarian cancer and their peritoneal implants, which may be monoclonal extra-ovarian metastases or polyclonal independent masses. The purpose of this review is to provide an update on the potential use of mtDNA sequencing in distinguishing independent and metastatic lesions in gynecological cancers, and to compare the efficiency of molecular analyses currently in use with this novel method. View Full-Text
Keywords: mitochondrial DNA; gynecological cancer; DNA genotyping; borderline ovarian tumors; synchronous tumors mitochondrial DNA; gynecological cancer; DNA genotyping; borderline ovarian tumors; synchronous tumors

Graphical abstract

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Perrone, A.M.; Girolimetti, G.; Procaccini, M.; Marchio, L.; Livi, A.; Borghese, G.; Porcelli, A.M.; De Iaco, P.; Gasparre, G. Potential for Mitochondrial DNA Sequencing in the Differential Diagnosis of Gynaecological Malignancies. Int. J. Mol. Sci. 2018, 19, 2048.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top