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Diagnostics
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Pathology and Diagnosis of Gynecologic Diseases, 3rd Edition
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Pathology and Diagnosis of Gynecologic Diseases, 3rd Edition

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

Deadline for manuscript submissions: 31 December 2025 | Viewed by 1491

Special Issue Editors

Dr. Cinzia Giacometti

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Guest Editor
Pathology Unit, Pederzoli Hospital, 37019 Peschiera del Garda, Italy
Interests: feto-placental pathology; gynecologic pathology; breast pathology
Special Issues, Collections and Topics in MDPI journals
Dr. Mariateresa Mirandola

E-Mail
Guest Editor Assistant
Gynecology Unit, Pederzoli Hospital, 37019 Peschiera del Garda, Verona, Italy
Interests: gynecological oncology

Special Issue Information

Dear Colleagues,

When approaching diagnostic pathology in gynecologic diseases, many different scenarios can be encountered: benign lesions mimick malignant ones, and vice versa; hormonal effects (either menstrual, pregnancy, or therapy-related) alter normal histology and create artifacts; systemic diseases (such as diabetes and connective tissue diseases) influence the hormonal status and affect placentation and gestation; genetic imbalance (BRCA, p53, mismatch repair protein deficiency) can cause breast, endometrial, and ovary cancer. This female “cosmos”, in which so much is interconnected and happens as a result of something else, is complex, and diagnostic challenges, tough differential diagnosis, and pitfalls are routinely encountered.

Against this background, this Special Issue focuses on different, and innovative approaches to the diagnosis, use, and application of alternative/ancillary techniques (immunohistochemistry, in situ hybridization, and molecular biology) and methodological perspectives.

We warmly invite experts to contribute the following:

  • Original research articles, also on animal models;
  • Review articles/mini reviews;
  • Short communications/expert points of view;
  • Interesting images on rare entities.

You may choose our Joint Special Issue in Reproductive Medicine.

Dr. Cinzia Giacometti
Guest Editor

Dr. Mariateresa Mirandola
Guest Editor Assistant

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 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 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

  • gynecologic pathology
  • breast pathology
  • placental pathology
  • diagnostic pitfalls
  • differential diagnosis
  • molecular biology
  • immunohistochemistry
  • in situ hybridization

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Further information on MDPI's Special Issue policies can be found here.

Related Special Issues

Published Papers (4 papers)

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Research

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13 pages, 241 KiB  
Article
Impact of Pre-Pregnancy Body Mass Index on Pregnancy and Perinatal Outcomes in Liver Transplant Recipients: A Retrospective Cohort Study
by Eliza Kobryn, Zoulikha Jabiry-Zieniewicz, Nicole Akpang, Krzysztof Zieniewicz, Michal Grat, Artur Ludwin and Monika Szpotanska-Sikorska
Diagnostics 2025, 15(16), 2054; https://doi.org/10.3390/diagnostics15162054 (registering DOI) - 16 Aug 2025
Abstract
Background: Pre-pregnancy overweight and obesity are established risk factors for adverse maternal and perinatal outcomes in the general obstetric population. However, data regarding their impact in female liver transplant recipients remain limited. This study aimed to evaluate the association between pre-pregnancy body [...] Read more.
Background: Pre-pregnancy overweight and obesity are established risk factors for adverse maternal and perinatal outcomes in the general obstetric population. However, data regarding their impact in female liver transplant recipients remain limited. This study aimed to evaluate the association between pre-pregnancy body mass index (BMI) and pregnancy-related complications and neonatal outcomes in this high-risk cohort. Methods: A retrospective cohort analysis was conducted on pregnancies in liver transplant recipients who delivered between 2001 and 2022 at a single tertiary referral center. Participants were stratified into two groups based on pre-pregnancy BMI: normal weight (18.5–24.9 kg/m2) and overweight/obese (≥25 kg/m2). Maternal characteristics, pregnancy complications, and perinatal outcomes were compared using appropriate statistical methods, with significance set at p < 0.05. Results: Among 72 pregnancies included in the analysis, 48 (66.7%) were in women with normal BMI, and 24 (33.3%) were in those with an elevated BMI. No statistically significant differences were observed in gestational age at delivery, neonatal birth weight, Apgar scores, or incidence of preterm birth. Although pregnancy-induced hypertension and cesarean delivery were more prevalent among overweight/obese individuals, these differences did not reach statistical significance (PIH: 28% vs. 10.4%, p = 0.112; cesarean delivery: 76% vs. 64.6%, p = 0.465). Conclusions: In conclusion, pre-pregnancy overweight and obesity were not significantly associated with adverse obstetric or neonatal outcomes in liver transplant recipients. Nevertheless, the observed trends suggest a potential predisposition to hypertensive disorders (PIH: 28% vs. 10.4%, p = 0.112), underscoring the importance of individualized preconception counseling and weight optimization strategies in this high-risk patient population. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Gynecologic Diseases, 3rd Edition)
11 pages, 5297 KiB  
Article
Eosinophilic Cells as a Distinct Morphological Feature in BRAFV600E-Mutated Ovarian Serous Borderline Tumors
by Alina Badlaeva, Anna Tregubova, Aleksandra Asaturova and Gennady Sukhikh
Diagnostics 2025, 15(12), 1479; https://doi.org/10.3390/diagnostics15121479 - 11 Jun 2025
Viewed by 402
Abstract
Background/Objectives: According to recent reports, the BRAFV600E mutation in serous borderline tumors (SBTs) plays a protective role against progression to low-grade serous carcinoma through oncogene-induced senescence. One consequence of this is the appearance of eosinophilic cells (ECs). The aim of the [...] Read more.
Background/Objectives: According to recent reports, the BRAFV600E mutation in serous borderline tumors (SBTs) plays a protective role against progression to low-grade serous carcinoma through oncogene-induced senescence. One consequence of this is the appearance of eosinophilic cells (ECs). The aim of the current study was to determine the interobserver reproducibility of ECs and their predictive significance for the detection of the BRAFV600E mutation in SBTs. Methods: The study was conducted using 63 cases of ovarian SBTs. Three gynecological pathologists, blinded to each tumor’s mutation status, assessed the presence of ECs. Immunohistochemical staining with p16 and Ki-67 was performed to validate ECs. Mutational analysis was carried out using targeted NGS. Results: Genetic analysis revealed 30 BRAF-mutated, 1 NRAS-mutated, and 9 KRAS-mutated SBTs. ECs were identified by the majority of pathologists (two or three) in 78% of the BRAFV600E-mutated and 11% of the wild-type tumors with other mutations (p < 0.0001). The interobserver reproducibility of the presence of ECs was substantial (κ = 0.66). ECs validated with p16/Ki-67 were identified in 92.6% of the BRAFV600E-mutated and in 13.8% of the wild-type tumors with other mutations (p < 0.0001). For the ECs identified by the majority of pathologists, the sensitivity and specificity when predicting the BRAFV600E mutation were 77.8% and 88.9%, respectively. For the ECs validated with p16/Ki-67, the sensitivity and specificity when predicting the BRAFV600E mutation were 95.3% and 90.5%, respectively. Conclusions: Overall, these results suggest that ECs in SBTs have potential association with the BRAFV600E mutation. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Gynecologic Diseases, 3rd Edition)
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Review

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17 pages, 319 KiB  
Review
Intrahepatic Cholestasis of Pregnancy: Diagnosis, Management, and Future Directions—A Review of the Literature
by Kamil Jasak, Wanda Gajzlerska-Majewska, Zoulikha Jabiry-Zieniewicz, Ewelina Litwińska-Korcz, Magdalena Litwińska, Artur Ludwin and Monika Szpotańska-Sikorska
Diagnostics 2025, 15(16), 2002; https://doi.org/10.3390/diagnostics15162002 - 10 Aug 2025
Viewed by 394
Abstract
Intrahepatic cholestasis of pregnancy (ICP) is the most common liver disorder specific to pregnancy, typically presenting in the third trimester. It is characterized by pruritus, elevated serum bile acids, and abnormal liver function tests. While maternal symptoms resolve postpartum, ICP poses significant risks [...] Read more.
Intrahepatic cholestasis of pregnancy (ICP) is the most common liver disorder specific to pregnancy, typically presenting in the third trimester. It is characterized by pruritus, elevated serum bile acids, and abnormal liver function tests. While maternal symptoms resolve postpartum, ICP poses significant risks to fetal health, including spontaneous preterm labor, meconium-stained amniotic fluid, and stillbirth. This review aims to synthesize current knowledge on the pathogenesis, diagnosis, and management and highlight emerging research and possible therapy directions in ICP. A comprehensive review of recent literature was conducted, focusing on molecular mechanisms, clinical management guidelines, fetal outcomes, and novel therapeutics under investigation. Ursodeoxycholic acid (UDCA) remains the primary pharmacologic treatment of intrahepatic cholestasis of pregnancy; however, its effect on perinatal outcomes is debated. Investigational therapies—including Volixibat, FXR agonists, 4-phenylbutyrate, and NorUDCA—are under exploration. These emerging therapies hold the potential to improve both maternal symptoms and perinatal outcomes by addressing the underlying pathophysiology of ICP more effectively than current standard treatment. Additionally, emerging biomarkers and machine-learning tools hold promise for improved diagnosis and personalized care. ICP continues to pose diagnostic and therapeutic challenges. While maternal outcomes are generally favorable, optimizing fetal safety requires timely diagnosis, stratified risk assessment, and evidence-based delivery planning. Future research should prioritize identifying predictive biomarkers, refining treatment algorithms, and assessing long-term outcomes for both mothers and offspring. Special attention should also be given to the investigation of novel therapeutic targets. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Gynecologic Diseases, 3rd Edition)

Other

Jump to: Research, Review

7 pages, 1853 KiB  
Interesting Images
Mucinous Carcinoma, Mucinous Borderline Tumor and Pseudomyxoma Ovarii in a Cystic Teratoma: A Histological Conundrum
by Cinzia Giacometti, Mariateresa Mirandola, Camillo Aliberti, Filippo Molinari, Lisa Marcolini, Daniele Mautone and Guido Martignoni
Diagnostics 2025, 15(15), 1957; https://doi.org/10.3390/diagnostics15151957 - 4 Aug 2025
Viewed by 378
Abstract
Mature teratomas account for approximately 20% of all ovarian tumors identified in pathological studies. Benign or malignant somatic neoplasms developing within teratomas can arise from any tissue in up to 2% of mature cystic teratomas, including low-grade malignant mucinous neoplasms. This report presents [...] Read more.
Mature teratomas account for approximately 20% of all ovarian tumors identified in pathological studies. Benign or malignant somatic neoplasms developing within teratomas can arise from any tissue in up to 2% of mature cystic teratomas, including low-grade malignant mucinous neoplasms. This report presents the case of a 34-year-old woman with no previous gynecological or general health issues, who was admitted to our Hospital after an asymptomatic pelvic mass was detected during a routine exam. A transvaginal ultrasound revealed a unilateral pelvic mass in the left adnexal region, measuring 8 cm. The CT scan showed a cystic-appearing formation measuring nearly 12 cm, which indented the bladder dome. Final diagnosis indicated a mucinous carcinoma arising from a mucinous borderline lesion within the context of a mature ovarian teratoma. No other involvement or lymphadenopathies were detected on 18FDG-PET CT scan, and the patient is now well and free of recurrences. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Gynecologic Diseases, 3rd Edition)
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