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

International Journal of Molecular Sciences
Anna Myriam PerroneGiuseppe Gasparre

Abstract

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 ...Continue Reading

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Citations

Sep 15, 2019·Archives of Gynecology and Obstetrics·Xiangbo ZhanJinghe Lang
Jul 31, 2020·Cancers·Monika SobočanJohannes Haybaeck
Nov 26, 2020·Journal of Cancer Research and Clinical Oncology·Giulia GirolimettiClaudio Ceccarelli
May 29, 2021·Nature Reviews. Cancer·Piotr K KopinskiDouglas C Wallace

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Methods Mentioned

BETA
biopsies
genotyping
hysterectomy
PCR

Software Mentioned

MToolBox

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