Advances in Diagnosis and Management of Endometrial Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 3057

Special Issue Editor


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Guest Editor
Infertility Center, Iryouhoujin Kouseikai Mihara Hospital, 6-8 Kamikatsura Miyanogo-cho, Nishikyo-ku, Kyoto 615-8227, Japan
Interests: infertility; chronic endometritis; endometrial cancer
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Special Issue Information

Dear Colleagues,

We are delighted to invite submissions to this Special Issue, entitled “Advances in Diagnosis and Management of Endometrial Diseases”.

In women of reproductive age, the endometrium is a unique mucosal tissue that undergoes periodical dynamic changes including proliferation, differentiation, and shedding (menstruation) under the influence of ovarian steroids. When conception occurs, endometrium transforms into decidua, which is a specialized secretory tissue that forms the outermost layer of the placenta to support a pregnancy.

Meanwhile, disorders of the endometrium, including endometrial cancer/hyperplasia, endometriosis, adenomyosis, endometritis, polyps, intrauterine adhesion, and endometrial thinning, can manifest with various symptoms such as abnormal uterine bleeding and pelvic pain, subsequently causing infertility.

This Special Issue aims to showcase cutting-edge research, novel methodologies, and impactful applications in the diagnosis and management of both benign and malignant endometrial diseases.

Topics of interest include, but are not limited to, the following:

  • Artificial intelligence;
  • Hysteroscopy;
  • Ultrasound;
  • Magnetic resonance imaging;
  • Microbiome;
  • Histopathology;
  • Cellular and molecular pathology;
  • Minimally invasive surgery.

We welcome original research articles, review articles, case reports, and series. We look forward to your insights and discoveries.

Dr. Kotaro Kitaya
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 submissions that pass pre-check are 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 250 words) can be sent to the Editorial Office for assessment.

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 semimonthly 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 2600 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

  • endometrial diseases
  • artificial intelligence
  • hysteroscopy
  • ultrasound
  • minimally invasive surgery

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Published Papers (3 papers)

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Research

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12 pages, 817 KB  
Article
Microsatellite Instability Status and Mismatch Repair Defects Testing in Endometrial Cancer—Insights from the Multicenter E-PEC Trial
by Büsra Eser, David Papior, Jon Salmanton-García, Oliver A. Cornely, Bernd Morgenstern, Clarissa Herpel, Julia C. Radosa, Anas Almuheimid, Bahriye Aktas, Laura Weydandt, Julia Wittenborn, Philipp Meyer-Wilmes, Verena Friebe, Christiane Leidinger, Rainer Kimmig and Fabinshy Thangarajah
Diagnostics 2026, 16(1), 100; https://doi.org/10.3390/diagnostics16010100 - 27 Dec 2025
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Abstract
Background: Mismatch repair (MMR) and microsatellite instability (MSI) testing have become essential biomarkers in the molecular classification of endometrial cancer (EC), guiding adjuvant treatment decisions and eligibility for immune checkpoint inhibition. Although international guidelines recommend universal testing, real-world implementation remains heterogeneous. This study [...] Read more.
Background: Mismatch repair (MMR) and microsatellite instability (MSI) testing have become essential biomarkers in the molecular classification of endometrial cancer (EC), guiding adjuvant treatment decisions and eligibility for immune checkpoint inhibition. Although international guidelines recommend universal testing, real-world implementation remains heterogeneous. This study aimed to evaluate trends in MMR and MSI testing and associated molecular diagnostics in Germany between 2018 and 2022. Methods: A retrospective multicenter analysis was conducted across German tertiary care centers. Data from patients with histologically confirmed EC between 2018 and 2022 were extracted from standardized electronic pathology records. Annual testing rates for MSI, MMR, POLE, TP53, and L1CAM were analyzed using descriptive statistics and trend analysis (Chi-square test for trend, p < 0.05). Therapeutic data were collected to assess the use of immune checkpoint inhibitors. Results: There was a significant increase in the annual rates of molecular testing for MSI, POLE, TP53, and L1CAM over the five-year observation period (all p < 0.05). TP53 testing showed the highest increase (13.1% → 78.6%), while MSI testing rose from 82.9% to 97.4%. Both POLE and L1CAM testing were virtually absent in 2018 (0% and 1.6%) but reached 15.7% by 2022. Conclusions: This study demonstrates a rapid and substantial implementation of MMR and MSI testing in German clinical practice, reflecting successful translation of trial results into routine care. However, implementation of testing in guidelines appeared time-shifted. For bridging this gap, annual guideline updates seem to be necessary. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Management of Endometrial Diseases)
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13 pages, 665 KB  
Article
Comparison of Preoperative Magnetic Resonance Imaging and Intraoperative Frozen Section Analysis with Final Pathological Outcomes in the Assessment of Myometrial Invasion in Endometrial Cancer Cases
by Tuba Metin Çakır, Fatma Ceren Güner, Elif Iltar, Can Dinç, Ömer Faruk Öz and Tayup Şimşek
Diagnostics 2025, 15(21), 2799; https://doi.org/10.3390/diagnostics15212799 - 5 Nov 2025
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Abstract
Background: The aim of this study is to compare the concordance of Preoperative Magnetic Resonance Imaging (MRI) and Intraoperative Frozen Section Analysis, widely used worldwide for Endometrial Cancer (EC), with final pathology results, to calculate their sensitivity and specificity, and to evaluate [...] Read more.
Background: The aim of this study is to compare the concordance of Preoperative Magnetic Resonance Imaging (MRI) and Intraoperative Frozen Section Analysis, widely used worldwide for Endometrial Cancer (EC), with final pathology results, to calculate their sensitivity and specificity, and to evaluate their diagnostic agreement with final pathology results. Positive predictive values for both MRI and frozen section analysis will also be calculated. Methods: In this retrospective cohort study, patients diagnosed with Endometrioid-Type Endometrial Cancer at the Gynecologic Oncology Surgery Department of Akdeniz University Hospital between January 2020 and December 2023 underwent preoperative MRI to assess the depth of myometrial invasion and intraoperative frozen section examination for surgical staging. The results of both methods were compared with the final pathology reports. Results: A total of 88 patients were included in the study. Patient ages ranged from 34 to 80 years, with a mean age of 57.57 years (SD: 9.65), predominantly in the middle-aged and older population. In the assessment of myometrial invasion depth, MRI demonstrated a sensitivity of 81.6% and a specificity of 88%, while frozen section analysis showed a sensitivity of 73.7% and a specificity of 98.0%. Conclusions: In our study, preoperative MRI demonstrated similar sensitivity and specificity to intraoperative frozen section analysis in determining the depth of myometrial invasion in cases of Endometrioid-Type Endometrial Cancer. Therefore, when intraoperative frozen section analysis is not available, MRI findings may assist surgical planning, particularly in centers where frozen section is limited. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Management of Endometrial Diseases)
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Other

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12 pages, 691 KB  
Systematic Review
The Diagnostic Accuracy of Magnetic Resonance Imaging Versus Transvaginal Ultrasound in Deep Infiltrating Endometriosis and Their Impact on Surgical Decision-Making: A Systematic Review
by Michael O’Leary, Conor Neary and Edward Lawrence
Diagnostics 2025, 15(22), 2856; https://doi.org/10.3390/diagnostics15222856 - 12 Nov 2025
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Abstract
Objectives: This study aimed to systematically compare the diagnostic accuracy of magnetic resonance imaging (MRI) and transvaginal ultrasound (TVUS) for deep infiltrating endometriosis (DIE) and to evaluate their impact on surgical decision-making. Methods: We carried out a systematic review of studies (2015–2025) comparing [...] Read more.
Objectives: This study aimed to systematically compare the diagnostic accuracy of magnetic resonance imaging (MRI) and transvaginal ultrasound (TVUS) for deep infiltrating endometriosis (DIE) and to evaluate their impact on surgical decision-making. Methods: We carried out a systematic review of studies (2015–2025) comparing MRI and TVUS for DIE in the same patients, with surgical/histological confirmation used as the reference standard. The primary outcomes were sensitivity and specificity by lesion site; the secondary outcomes included the reported impact on surgical decision-making and treatment planning. Results: Nine studies met the inclusion criteria. For rectosigmoid lesions, the sensitivity was 79–94% for TVUS and 86–94% for MRI, with a high specificity for both (84–95%). TVUS demonstrated strong diagnostic accuracy for posterior compartment disease, but its sensitivity was notably lower for uterosacral ligament and bladder lesions (25–83%). MRI showed higher sensitivity for anterior and multi-compartmental lesions (75–94%), reflecting its superior anatomical coverage. Imaging informed surgical planning, ensuring the inclusion of subspecialists such as colorectal or urological surgeons. It also guided the extent of resection and need for radical versus conservative procedures. Conclusions: TVUS and MRI are complementary imaging modalities in the diagnosis and staging of DIE. TVUS offers high specificity and remains particularly effective for posterior compartment disease, whereas MRI provides broader anatomical coverage and higher sensitivity for anterior and multi-compartmental involvement. Importantly, integrating imaging into preoperative planning improves multidisciplinary coordination, optimises preparedness, and guides resection. This is the first review to systematically compare MRI and TVUS for DIE with an emphasis on lesion-level accuracy and the impact on surgical decision-making. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Management of Endometrial Diseases)
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