Special Issue "Diagnosis of Endometriosis: Biomarkers and Clinical Methods"

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 August 2020.

Special Issue Editor

Dr. Antonio Simone Laganà
Website SciProfiles
Guest Editor
Department of Obstetrics and Gynecology, "Filippo Del Ponte" Hospital, University of Insubria, Varese, Italy
Interests: endometriosis; reproductive immunology; infertility; minimally invasive surgery; in vitro fertilization
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Endometriosis is defined as the presence of endometrial-like endometrial cells, glands, and stroma outside the uterus, causing a wide range of symptoms and signs, including acute and chronic pelvic pain and infertility. Endometriosis affects approximately 10% of women in reproductive age, and up to 50% of infertile women. The etiopathogenesis of endometriosis still remains controversial: immune, hormonal, genetic, and epigenetic factors may be all involved, and several theories have been proposed to explain it.

One of the main problems for the management of endometriosis is the significant diagnostic delay: to date, several biomarkers are currently being tested in order to provide a reliable non-invasive diagnosis in case of symptoms and signs suspicious for endometriosis.

In addition, ultrasound techniques and magnetic resonance imaging are evolving rapidly, allowing for better accuracy, even with the use of artificial intelligence. Finally, new potential histological makers are helping to correlate the occurrence of endometriosis in different anatomical landmarks, supporting specific pathways to clarify the etiology of the disease.

This Special Issue will publish reviews and original research about the diagnostics of endometriosis: in particular, we welcome articles about molecular, cellular and histological biomarkers; imaging techniques, including ultrasound and magnetic resonance imaging, and new invasive (surgical) techniques.

Dr. Antonio Simone Laganà
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Endometriosis
  • Diagnosis
  • Biomarkers
  • Ultrasound
  • Magnetic resonance imaging
  • Invasive diagnosis

Published Papers (5 papers)

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Research

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Open AccessArticle
Uncovering Potential Roles of Differentially Expressed Genes, Upstream Regulators, and Canonical Pathways in Endometriosis Using an In Silico Genomics Approach
Diagnostics 2020, 10(6), 416; https://doi.org/10.3390/diagnostics10060416 - 19 Jun 2020
Abstract
Endometriosis is characterized by ectopic endometrial tissue implantation, mostly within the peritoneum, and affects women in their reproductive age. Studies have been done to clarify its etiology, but the precise molecular mechanisms and pathophysiology remain unclear. We downloaded genome-wide mRNA expression and clinicopathological [...] Read more.
Endometriosis is characterized by ectopic endometrial tissue implantation, mostly within the peritoneum, and affects women in their reproductive age. Studies have been done to clarify its etiology, but the precise molecular mechanisms and pathophysiology remain unclear. We downloaded genome-wide mRNA expression and clinicopathological data of endometriosis patients and controls from NCBI’s Gene Expression Omnibus, after a systematic search of multiple independent studies comprising 156 endometriosis patients and 118 controls to identify causative genes, risk factors, and potential diagnostic/therapeutic biomarkers. Comprehensive gene expression meta-analysis, pathway analysis, and gene ontology analysis was done using a bioinformatics-based approach. We identified 1590 unique differentially expressed genes (129 upregulated and 1461 downregulated) mapped by IPA as biologically relevant. The top upregulated genes were FOS, EGR1, ZFP36, JUNB, APOD, CST1, GPX3, and PER1, and the top downregulated ones were DIO2, CPM, OLFM4, PALLD, BAG5, TOP2A, PKP4, CDC20B, and SNTN. The most perturbed canonical pathways were mitotic roles of Polo-like kinase, role of Checkpoint kinase proteins in cell cycle checkpoint control, and ATM signaling. Protein–protein interaction analysis showed a strong network association among FOS, EGR1, ZFP36, and JUNB. These findings provide a thorough understanding of the molecular mechanism of endometriosis, identified biomarkers, and represent a step towards the future development of novel diagnostic and therapeutic options. Full article
(This article belongs to the Special Issue Diagnosis of Endometriosis: Biomarkers and Clinical Methods)
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Open AccessArticle
A Prospective Study Comparing Three-Dimensional Rectal Water Contrast Transvaginal Ultrasonography and Computed Tomographic Colonography in the Diagnosis of Rectosigmoid Endometriosis
Diagnostics 2020, 10(4), 252; https://doi.org/10.3390/diagnostics10040252 - 24 Apr 2020
Cited by 2
Abstract
(1) Objectives: In patients with symptoms suggestive of rectosigmoid endometriosis, imaging techniques are required to confirm the presence and establish the extent of the disease. The objective of the current study was to compare the performance of three-dimensional rectal water contrast transvaginal ultrasonography [...] Read more.
(1) Objectives: In patients with symptoms suggestive of rectosigmoid endometriosis, imaging techniques are required to confirm the presence and establish the extent of the disease. The objective of the current study was to compare the performance of three-dimensional rectal water contrast transvaginal ultrasonography (3D-RWC-TVS) and computed tomographic colonography (CTC) in predicting the presence and characteristics of rectosigmoid endometriosis. (2) Methods: This prospective study included patients with suspicion of rectosigmoid endometriosis who underwent both 3D-RWC-TVS and CTC and subsequently were surgically treated. The findings of imaging techniques were compared with surgical and histological results. (3) Results: Out of 68 women included in the study, 37 (48.9; 95% C.I. 38.2–59.7%) had rectosigmoid nodules and underwent bowel surgery. There was no significant difference in the accuracy of 3D-RWC-TVS and CTC in diagnosing the presence of rectosigmoid endometriotic nodules (p = 0.118), although CTC was more precise in diagnosing endometriosis located in the sigmoid (p = 0.016). 3D-RWC-TVS and CTC had similar precision in estimating the largest diameter of the main endometriotic nodule (p = 0.099) and, in patients undergoing segmental resection, the degree of the stenosis of the bowel lumen (p = 0.293). CTC was more accurate in estimating the distance between the lower margin of the intestinal nodule and the anal verge (p = 0.030) but was less tolerated than 3D-RWC-TVS (p < 0.001). (4) Conclusion: This was the first study comparing the performance of 3D-RWC-TVS and CTC in the diagnosis of rectosigmoid endometriosis. Both techniques allowed for the evaluation of the profile of the bowel lumen in a pseudoendoscopic fashion and had a similar performance for the diagnosis of rectosigmoid endometriosis, although CTC was more accurate in diagnosing and characterizing sigmoid nodules. Full article
(This article belongs to the Special Issue Diagnosis of Endometriosis: Biomarkers and Clinical Methods)
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Open AccessArticle
Does Endometriosis Influence the Embryo Quality and/or Development? Insights from a Large Retrospective Matched Cohort Study
Diagnostics 2020, 10(2), 83; https://doi.org/10.3390/diagnostics10020083 - 03 Feb 2020
Abstract
In vitro fertilization can be an effective tool to manage the endometriosis-associated infertility, which accounts for 10% of the strategy indications. Nevertheless, a negative effect of endometriosis on IVF outcomes has been suggested. The aim of this study was to evaluate the potential [...] Read more.
In vitro fertilization can be an effective tool to manage the endometriosis-associated infertility, which accounts for 10% of the strategy indications. Nevertheless, a negative effect of endometriosis on IVF outcomes has been suggested. The aim of this study was to evaluate the potential effect of endometriosis in the development of embryos at cleavege stage in assisted reproduction treatment cycles. A total of 429 cycles from women previously operated for moderate/severe endometriosis were compared with 851 cycles from non-affected women. Patients were matched by age, number of oocyte retrieved and study period. A total of 3818 embryos in cleavage stage have been analyzed retrospectively. Overall, no difference was found between women with and without endometriosis regarding the number of cleavage stage embryos obtained as well as the percentage of good/fair quality embryos. Excluding cycles in which no transfers were performed or where embryos were frozen in day three, no difference was observed for blastulation rate or the percentage of good/fair blastocysts obtained. Despite similar fertilization rate and number/quality of embryos, a reduction in ongoing pregnancy rate was observed in patients affected, possibly due to an altered endometrial receptivity or to the limited value of the conventional morphological evaluation of the embryo. Full article
(This article belongs to the Special Issue Diagnosis of Endometriosis: Biomarkers and Clinical Methods)

Review

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Open AccessReview
Endometriosis in Menopause—Renewed Attention on a Controversial Disease
Diagnostics 2020, 10(3), 134; https://doi.org/10.3390/diagnostics10030134 - 29 Feb 2020
Abstract
Endometriosis, an estrogen-dependent inflammatory disease characterized by the ectopic presence of endometrial tissue, has been the topic of renewed research and debate in recent years. The paradigm shift from the belief that endometriosis only affects women of reproductive age has drawn attention to [...] Read more.
Endometriosis, an estrogen-dependent inflammatory disease characterized by the ectopic presence of endometrial tissue, has been the topic of renewed research and debate in recent years. The paradigm shift from the belief that endometriosis only affects women of reproductive age has drawn attention to endometriosis in both premenarchal and postmenopausal patients. There is still scarce information in literature regarding postmenopausal endometriosis, the mostly studied and reported being the prevalence in postmenopausal women. Yet, other important issues also need to be addressed concerning diagnosis, pathophysiology, and management. We aimed at summarizing the currently available data in literature in order to provide a concise and precise update regarding information available on postmenopausal endometriosis. Full article
(This article belongs to the Special Issue Diagnosis of Endometriosis: Biomarkers and Clinical Methods)
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Other

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Open AccessBrief Report
Microbiome Profile of Deep Endometriosis Patients: Comparison of Vaginal Fluid, Endometrium and Lesion
Diagnostics 2020, 10(3), 163; https://doi.org/10.3390/diagnostics10030163 - 17 Mar 2020
Cited by 1
Abstract
This work aimed to identify and compare the bacterial patterns present in endometriotic lesions, eutopic endometrium and vaginal fluid from endometriosis patients with those found in the vaginal fluid and eutopic endometrium of control patients. Vaginal fluid, eutopic endometrium and endometriotic lesions were [...] Read more.
This work aimed to identify and compare the bacterial patterns present in endometriotic lesions, eutopic endometrium and vaginal fluid from endometriosis patients with those found in the vaginal fluid and eutopic endometrium of control patients. Vaginal fluid, eutopic endometrium and endometriotic lesions were collected. DNA was extracted and the samples were analyzed to identify microbiome by high-throughput DNA sequencing of the 16S rRNA marker gene. Amplicon sequencing from vaginal fluid, eutopic endometrium and endometriotic lesion resulted in similar profiles of microorganisms, composed most abundantly by the genus Lactobacillus, Gardnerella, Streptococcus and Prevotella. No significant differences were found in the diversity analysis of microbiome profiles between control and endometriotic patients; however deep endometriotic lesions seems to present different bacterial composition, less predominant of Lactobacillus and with more abundant Alishewanella, Enterococcus and Pseudomonas. Full article
(This article belongs to the Special Issue Diagnosis of Endometriosis: Biomarkers and Clinical Methods)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Issues in the pathological diagnostic of atypical endometriosis: a wolf in sheep's clothing?
Authors: Eleftherios Pierre Samartzis1; Stergios Boussios2; Simone Brandt3; Aurelia Noske3
Affiliation: 1) Department of Gynecology and Gynecological Cancer Center, University Hospital Zurich, Frauenklinikstrasse 10, CH-8091, Zurich, Switzerland. 2) Department of Medical Oncology, Medway NHS Foundation Trust, Windmill Road, ME7 5NY, Gillingham, Kent, UK. 3) Institut Pathologie der Medica, Hottingerstrasse 9 / 11, Postfach, CH-8024, Zurich, Switzerland
Abstract: Endometriosis is a frequent benign gynecologic condition, defined by the presence of ectopic endometrial-like tissue, which affects up to 10% of women in the reproductive age and is often leading to chronic pain disorders and/or infertility. There is an association of endometriosis and the subtypes of clear cell and endometrioid ovarian carcinoma, with an estimated lifetime ovarian cancer risk of about 1,8% for women affected by endometriosis. In certain cases, some tissue areas of endometriosis may be described as “atypical” due to nuclear atypia and polymorphic appearance. However, there is no consistent definition of “atypical endometriosis” in the histologic diagnostic and the term has been used for different lesions in the literature. The lack of uniformity in the histologic definition of “atypical endometriosis” is complicating its use for clinical considerations especially in terms of a possible cancer risk assessment. Even pronounced forms of nuclear atypia may be caused by the persistent inflammatory state in benign endometriosis, as e.g. due to repeated hemorrhage in endometriotic cysts, and the term does in most of the cases not reflect a premalignant condition. This review focusses on the different concepts of “atypical endometriosis”, the pitfalls that may occur in the histological diagnostic, in the communication between pathologists and clinicians, as well as possible future directions in early-diagnostic and cancer prevention in women at risk to develop endometriosis-associated ovarian carcinoma.

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