Pathological and molecular diagnosis of bilateral inguinal lymph nodes metastases from low-grade endometrial adenocarcinoma: a case report with review of the literature

Perrone, Anna Myriam; Girolimetti, Giulia; Cima, S.; Kurelac, Ivana; Livi, Alessandra; Caprara, Giacomo; Santini, Donatella; Castellucci, Paolo; Morganti, Alessio Giuseppe; Gasparre, Giuseppe; Iaco, Pierandrea De

doi:10.1186/s12885-017-3944-7

Cited by 5 publications

(4 citation statements)

References 14 publications

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“…Last, we recently used mtDNA sequencing in a peculiar case of a woman with inguinal lymph nodes lesions as the first presentation of a focal intramucosal well differentiated endometrioid EC to provide an additional diagnostic confirmation of inguinal node metastasis from EC. Through mitochondrial genome sequencing it was possible to validate the histological examination and to understand whether the metastatic inguinal lymph nodes were derived from the EC, which demonstrated clonality of the two lesions [ 92 ].…”

Section: Mitochondrial Dna Sequencing To Distinguish Simultaneous mentioning

confidence: 99%

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

Perrone,

Girolimetti,

Procaccini

et al. 2018

IJMS

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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.

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Section: Mitochondrial Dna Sequencing To Distinguish Simultaneous mentioning

confidence: 99%

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

Perrone,

Girolimetti,

Procaccini

et al. 2018

IJMS

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“…As the biology of metastatic cancers is being unraveled, the choice and interpretation of clinicopathological markers will also require revision and will call for adjuvant molecular techniques easy to implement in diagnostic routines. MtDNA may find its place in such practices, as we previously demonstrated in gynecological malignancies (Guerra et al 2011(Guerra et al , 2014Girolimetti et al 2017;Perrone et al 2018a).…”

Section: Discussionmentioning

confidence: 60%

“…In this context, valid, rapid and low-cost approaches for discrimination between a clonal and a new primary lesion are still lacking. Mitochondrial DNA (mtDNA) sequencing was reported as an informative approach to define clonality in simultaneously detected gynecological neoplasia (Guerra et al 2011 , 2014 ; Girolimetti et al 2017 ; Perrone et al 2018a ). Due to its tendency to accumulate non-recurrent mutations in cancer cells (Iommarini et al 2013 ; Perrone et al 2018b ), high mtDNA variability has been validated by our group as a tool to identify clonal, metastatic masses.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA analysis efficiently contributes to the identification of metastatic contralateral breast cancers

Girolimetti

Marchio

Leo

et al. 2020

J Cancer Res Clin Oncol

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Purpose In daily practice, a contralateral breast cancer (CBC) is usually considered as a new independent tumor despite the indications of several studies showing that the second neoplasia may be a metastatic spread of the primary tumor. Recognition of clonal masses in the context of multiple synchronous or metachronous tumors is crucial for correct prognosis, therapeutic choice, and patient management. Mitochondrial DNA (mtDNA) sequencing shows high informative potential in the diagnosis of synchronous neoplasms, based on the fact that somatic mtDNA mutations are non-recurrent events, whereas tumors sharing them have a common origin. We here applied this technique to reveal clonality of the CBC with respect to the first tumor. Methods We analyzed 30 sample pairs of primary breast cancers and synchronous or metachronous CBCs with detailed clinical information available and compared standard clinico-pathological criteria with mtDNA sequencing to reveal the metastatic nature of CBCs. Results MtDNA analysis was informative in 23% of the cases, for which it confirmed a clonal origin of the second tumor. In addition, it allowed to solve two ambiguous cases where histopathological criteria had failed to be conclusive and to suggest a clonal origin for two additional cases that had been classified as independent by pathologists. Conclusion Overall, the mtDNA-based classification showed a more accurate predictive power than standard histopathology in identifying cases of metastatic rather than bilateral breast cancers in our cohort, suggesting that mtDNA sequencing may be a more precise and easy-to-use method to be introduced in daily routine to support and improve histopathological diagnoses.

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“…Meanwhile, such a technology can present stereoscopic images for visually observing the blood vessels and organ structures inside human masses, which can further enhance the accuracy of diagnosis. 11 , 12 Three-dimensional Doppler ultrasound technology be used for analyzing blood flow quantification by virtue of blood flow histograms. In the study, compared with the pathological results, the accuracy, sensitivity and specificity of 3D-TVS were 97.27%, 77.78% and 80% respectively, indicating that 3D-TVS has certain clinical diagnostic accuracy for patients with postmenopausal endometrial lesions.…”

Section: Discussionmentioning

confidence: 99%

Application and accuracy analysis of three-dimensional transvaginal ultrasound in the diagnosis of endometrial lesions in postmenopausal women

Li¹,

Chen²

2022

Pak J Med Sci

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Objectives: To evaluate the value of three-dimensional transvaginal ultrasound (3D-TVS) for endometrial lesions in postmenopausal women, so as to improve the accuracy of clinical diagnosis of endometrial lesions in postmenopausal women. Methods: A total of 170 female patients admitted to Tianjin Central Hospital of Gynecology and Obstetrics from April 2018 to April 2020 were included in this study. Among them, 110 patients with pathologically confirmed postmenopausal endometrial lesions were divided into the study group (65 patients with benign lesions, 45 patients with malignant lesions), while 60 healthy postmenopausal women were divided into the volunteer group. PASS software was used to calculate the sample size. 3D-TVS was performed in both groups, and the results of the different groups were compared and analyzed. Results: The pathological results were invoked as the gold standard for detection, and the accuracy, sensitivity and specificity of 3D-TVS were 97.27%, 77.78% and 80% respectively. Patients in the study group had higher endometrial thickness and endometrial volume than those in the volunteer group (p<0.05). The results of ultrasound parameters in the benign lesion group were lower than those in the malignant lesion group (p<0.05), while the vascular index and micro-vessel density in the malignant lesion group were significantly higher than those in the benign lesion group (p<0.05). Conclusion: 3D-TVS has obvious clinical value in the diagnosis of endometrial lesions in postmenopausal women, boasting a variety of advantages, such as high accuracy, sensitivity and specificity, effectively reflecting the blood flow of patients with endometrial lesions, and further determining the degree of benign and malignant lesions in patients. doi: https://doi.org/10.12669/pjms.38.5.5331 How to cite this:Li L, Chen Q. Application and accuracy analysis of three-dimensional transvaginal ultrasound in the diagnosis of endometrial lesions in postmenopausal women. Pak J Med Sci. 2022;38(5):---------. doi: https://doi.org/10.12669/pjms.38.5.5331 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Pathological and molecular diagnosis of bilateral inguinal lymph nodes metastases from low-grade endometrial adenocarcinoma: a case report with review of the literature

Cited by 5 publications

References 14 publications

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

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

Mitochondrial DNA analysis efficiently contributes to the identification of metastatic contralateral breast cancers

Application and accuracy analysis of three-dimensional transvaginal ultrasound in the diagnosis of endometrial lesions in postmenopausal women

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