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Diagnostics
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Advances in Diagnosis of Gynecological Cancers
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Advances in Diagnosis of Gynecological Cancers

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: closed (30 April 2025) | Viewed by 11564

Special Issue Editors

Dr. Angela Santoro

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Guest Editor
General Pathology Unit, Department of Woman and Child’s Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy
Interests: breast pathology; gynecological oncology; molecular pathology
Special Issues, Collections and Topics in MDPI journals
Dr. Gian Franco Zannoni

E-Mail Website
Guest Editor
General Pathology Unit, Department of Woman and Child’s Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy
Interests: breast pathology; gynecological oncology; molecular pathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Routinary clinical practice is moving towards personalized medicine by means of biological tissutal prognostic/predictive biomarkers and next-generation sequencing applied to solid samples, liquid biopsy or also by the use of single-cell DNA/RNA sequencing. Improvements in our understanding of the molecular altered background in different gynecological malignancies have allowed more precise pathological diagnoses, effective targeted therapies, the development of new therapeutical chances as modern immunotherapies and a more correct prognostic risk stratification. In addition to histopathology coupled with molecular diagnostics, it has been shown that the potential benefits of DP (digital pathology), AI (artificial intelligence) and ML (machine learning) technologies in gynecologic tumors can greatly increase the accuracy and efficacy of cancer diagnosis, reduce diagnostic delays, and possibly eliminate the need for needless invasive operations. Oncological pretargeting has also been implemented and tested in several different ways in preclinical models and clinical trials for gynecological cancers, in particular for its suitability for imaging (PET imaging). Moreover, robotic surgical techniques are now a modern reality. The aim of this Special Issue is to highlight the different types of recent advances in the diagnosis and treatment of gynecological cancers.

Dr. Angela Santoro
Dr. Gian Franco Zannoni
Guest Editors

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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

  • gynecological cancers
  • histopathology
  • next-generation sequencing
  • liquid biopsy
  • theranostics
  • digital pathology
  • artificial intelligence and machine learning

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Published Papers (6 papers)

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Research

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17 pages, 2888 KiB  
Article
Investigating the Influence of Body Mass Index on Organs at Risk Doses for Adjuvant High-Dose-Rate Vaginal Cuff Brachytherapy in Patients with Early-Stage Endometrial Carcinoma: A Single-Center Experience
by Alexandra Timea Kirsch-Mangu, Diana Cristina Pop, Alexandru Țipcu, Andrei-Rareș Avasi, Claudia Ordeanu, Ovidiu Florin Coza and Alexandru Irimie
Diagnostics 2025, 15(7), 795; https://doi.org/10.3390/diagnostics15070795 - 21 Mar 2025
Viewed by 398
Abstract
Background: Endometrial cancer is the most common gynecologic malignancy in developed countries, with obesity recognized as a major risk factor contributing to its incidence. The rising prevalence of obesity has significant implications for treatment planning, particularly in radiation therapy approaches such as [...] Read more.
Background: Endometrial cancer is the most common gynecologic malignancy in developed countries, with obesity recognized as a major risk factor contributing to its incidence. The rising prevalence of obesity has significant implications for treatment planning, particularly in radiation therapy approaches such as high-dose-rate (HDR) vaginal cuff brachytherapy, which is commonly used as adjuvant therapy in early-stage endometrial carcinoma. Body Mass Index (BMI) is a key factor in brachytherapy, as increased adiposity may alter dosimetric parameters, affecting radiation distribution and doses received by organs at risk (OARs). Understanding the correlation between BMI and radiation dose to OARs is essential for optimizing treatment planning and minimizing adverse effects. Identifying dose variations across different BMI categories may help refine patient-specific brachytherapy approaches to ensure both efficacy and safety. Objectives: This study aims to investigate the influence of Body Mass Index (BMI) on the doses received by organs at risk (OAR) during high-dose-rate (HDR) vaginal cuff brachytherapy in patients diagnosed with early-stage endometrial carcinoma. Understanding the relationship between BMI and OAR doses could enhance treatment planning and minimize complications. Methods: We collected brachytherapy data for 242 endometrial cancer patients treated with adjuvant HDR vaginal cuff brachytherapy. The patients were categorized based on their BMI into normal weight, overweight, and obese groups. Dosimetric data were collected for OARs, including the bladder, rectum, and sigmoid colon, and also for dose fractionation, D90%, and the active length of the brachytherapy cylinder. The analysis included comparing the doses received by each organ across different BMI categories using appropriate statistical methods. Results: Preliminary findings indicated a significant variation in the doses to OARs correlating with BMI classifications. Obese patients exhibited slightly higher mean doses to the rectum and sigmoid compared to those with a normal BMI. The statistical analysis demonstrated that as BMI increased, the dose to these organs at risk also tended to increase, suggesting a need for adjusted treatment planning strategies in this population. Conclusions: Obesity is a key concern in endometrial cancer patients, with higher BMI linked to slightly increased doses to the rectum and sigmoid, though treatment remained homogeneously delivered. Future prospective clinical studies are essential to explore the relationship between these dosimetric findings, specifically the correlation between higher BMI, increased doses to organs at risk (OARs), and late treatment-related toxicities. This research is needed to better understand the long-term implications and to optimize therapeutic outcomes. Full article
(This article belongs to the Special Issue Advances in Diagnosis of Gynecological Cancers)
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10 pages, 439 KiB  
Article
Predictive Model of Paraaortic Lymph Node Involvement in cN0 Locally Advanced Cervical Cancers: PET/CT Technology Matters
by Judicael Hotton, Emilie Raimond, Fabien Reyal, Sophie Michel, Vivien Ceccato, Abdenasser Moubtakir, Dimitri Papathanassiou and David Morland
Diagnostics 2024, 14(22), 2607; https://doi.org/10.3390/diagnostics14222607 - 20 Nov 2024
Viewed by 929
Abstract
Background: The aim is to propose a model for predicting occult paraaortic lymph node (PALN) involvement in locally advanced cervical cancer (LACC) patients by including parameters such as reconstruction detection technology (use of time-of-flight) and parameters related to the primary tumor. This [...] Read more.
Background: The aim is to propose a model for predicting occult paraaortic lymph node (PALN) involvement in locally advanced cervical cancer (LACC) patients by including parameters such as reconstruction detection technology (use of time-of-flight) and parameters related to the primary tumor. This model will then be compared with the scores used in routine clinical practice; Methods: This retrospective observational cohort study included patients diagnosed with LACC who underwent 18F-FDG PET/CT prior to PALN surgical staging between February 2012 and May 2020. The following parameters were collected on PET/CT: tumor SUVmax, tumor MTV, number of common and distal pelvic node involvements. A multivariate regression analysis estimating the probability of PALN involvement was performed, with optimal thresholds determined via ROC curves; Results: In total, 71 patients met the inclusion criteria. Occult PALN involvement was detected in 12.7% of patients. A derived multivariate PET model selected four variables: number of common and distal iliac lymph nodes (OR 5.9 and 2.7, respectively), tumor-to-liver SUV ratio (OR 0.9) and the use of time-of-flight technology (OR 21.4 if no time-of-flight available). At the optimal threshold, a sensitivity of 77.8% and specificity of 88.7% was found. The model’s performances varied significantly between patients whose PET/CT used time-of-flight and those whose PET/CT did not. No significant differences were found between our model and the one used in clinical practice (p = 0.55); Conclusions: This study shows that PET/CT technology influences the ability to detect occult PALN involvement in LACC. This parameter should be considered in the regular revision of PET-based scores. Full article
(This article belongs to the Special Issue Advances in Diagnosis of Gynecological Cancers)
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10 pages, 938 KiB  
Article
MR Relaxometry for Discriminating Malignant Ovarian Cystic Tumors: A Prospective Multicenter Cohort Study
by Naoki Kawahara, Hiroshi Kobayashi, Tomoka Maehana, Kana Iwai, Yuki Yamada, Ryuji Kawaguchi, Junko Takahama, Nagaaki Marugami, Hirotaka Nishi, Yosuke Sakai, Hirokuni Takano, Toshiyuki Seki, Kota Yokosu, Yukihiro Hirata, Koyo Yoshida, Takafumi Ujihira and Fuminori Kimura
Diagnostics 2024, 14(11), 1069; https://doi.org/10.3390/diagnostics14111069 - 21 May 2024
Cited by 1 | Viewed by 1489
Abstract
Background: Endometriosis-associated ovarian cancer (EAOC) is a well-known type of cancer that arises from ovarian endometrioma (OE). OE contains iron-rich fluid in its cysts due to repeated hemorrhages in the ovaries. However, distinguishing between benign and malignant tumors can be challenging. We conducted [...] Read more.
Background: Endometriosis-associated ovarian cancer (EAOC) is a well-known type of cancer that arises from ovarian endometrioma (OE). OE contains iron-rich fluid in its cysts due to repeated hemorrhages in the ovaries. However, distinguishing between benign and malignant tumors can be challenging. We conducted a retrospective study on magnetic resonance (MR) relaxometry of cyst fluid to distinguish EAOC from OE and reported that this method showed good accuracy. The purpose of this study is to evaluate the accuracy of a non-invasive method in re-evaluating pre-surgical diagnosis of malignancy by a prospective multicenter cohort study. Methods: After the standard diagnosis process, the R2 values were obtained using a 3T system. Data on the patients were then collected through the Case Report Form (CRF). Between December 2018 and March 2023, six hospitals enrolled 109 patients. Out of these, 81 patients met the criteria required for the study. Results: The R2 values calculated using MR relaxometry showed good discriminating ability with a cut-off of 15.74 (sensitivity 80.6%, specificity 75.0%, AUC = 0.750, p < 0.001) when considering atypical or borderline tumors as EAOC. When atypical and borderline cases were grouped as OE, EAOC could be distinguished with a cut-off of 16.87 (sensitivity 87.0%, specificity 61.1%). Conclusions: MR relaxometry has proven to be an effective tool for discriminating EAOC from OE. Regular use of this method is expected to provide significant insights for clinical practice. Full article
(This article belongs to the Special Issue Advances in Diagnosis of Gynecological Cancers)
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Review

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21 pages, 601 KiB  
Review
Endometrial Atypical Hyperplasia and Risk of Endometrial Cancer
by An-Ju Chou, Ruo-Shi Bing and Dah-Ching Ding
Diagnostics 2024, 14(22), 2471; https://doi.org/10.3390/diagnostics14222471 - 5 Nov 2024
Cited by 4 | Viewed by 5395
Abstract
Endometrial atypical hyperplasia (EAH) is a premalignant condition with a substantial risk of progression to endometrial cancer (EC), with the endometrioid subtype being the most common. EAH is characterized by abnormal endometrial gland proliferation and cellular atypia, often resulting from prolonged unopposed estrogen [...] Read more.
Endometrial atypical hyperplasia (EAH) is a premalignant condition with a substantial risk of progression to endometrial cancer (EC), with the endometrioid subtype being the most common. EAH is characterized by abnormal endometrial gland proliferation and cellular atypia, often resulting from prolonged unopposed estrogen exposure. This review aims to explore the clinical significance of EAH, its risk of progression to EC, and the current approaches to management. The risk of EAH progressing to EC ranges from 20 to 50%, influenced by factors such as histopathology and genetic mutations including PTEN and KRAS. Key risk factors include obesity, polycystic ovary syndrome, and postmenopausal status. Abnormal uterine bleeding is a hallmark symptom of EAH and early-stage EC, necessitating diagnostic evaluation through endometrial biopsy and transvaginal ultrasonography. Therapeutic management strategies depend on patient risk and fertility considerations. Hormonal therapy, particularly progestins, is the mainstay for fertility preservation, while hysterectomy is preferred for higher-risk patients. Regular monitoring with biopsies is essential for those undergoing conservative treatment. Recent advancements in the management of EAH and EC have shifted towards incorporation of molecular diagnostics and targeted therapies, enabling better risk stratification and individualized care. Biomarkers and minimally invasive surgical techniques are emerging as promising approaches in improving outcomes for women with EAH. This review underscores the importance of early diagnosis and personalized management in preventing the progression of EAH to EC, highlighting current clinical practices and potential future developments in this field. Full article
(This article belongs to the Special Issue Advances in Diagnosis of Gynecological Cancers)
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Other

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14 pages, 962 KiB  
Systematic Review
Contrast Enhancement in Breast Cancer: Magnetic Resonance vs. Mammography: A 10-Year Systematic Review
by Francesco Filippone, Zohra Boudagga, Francesca Frattini, Gaetano Federico Fortuna, Davide Razzini, Anna Tambasco, Veronica Menardi, Alessandro Balbiano di Colcavagno, Serena Carriero, Anna Clelia Lucia Gambaro and Alessandro Carriero
Diagnostics 2024, 14(21), 2400; https://doi.org/10.3390/diagnostics14212400 - 28 Oct 2024
Viewed by 1623
Abstract
PURPOSE: Contrast Enhancement Magnetic Resonance (CEMR) and Contrast-Enhanced Mammography (CEM) are important diagnostic tools to evaluate breast cancer patients, and both are objects of interest in the literature. The purpose of this systematic review was to select publications from the last ten years [...] Read more.
PURPOSE: Contrast Enhancement Magnetic Resonance (CEMR) and Contrast-Enhanced Mammography (CEM) are important diagnostic tools to evaluate breast cancer patients, and both are objects of interest in the literature. The purpose of this systematic review was to select publications from the last ten years in order to evaluate the literature contributions related to the frequency of contrast agents used, administration techniques and the presence of adverse reactions. METHODS: We have selected, according to the PRISMA statement, publications reviewed on Pub Med in the period from 1 January 2012 to 31 December 2022. The search engine was activated using the following keywords: “CESM”, “CEM”, “CEDM”, “Contrast mammography” for CEM, “DCE-MRI”, “Contrast Enhancement MRI” for CEMR, excluding reviews, book chapters and meta-analyses. From the total number of publications, we made a preliminary selection based on titles and abstracts and excluded all articles published in languages other than English and all experimental studies performed on surgical specimen or animal population, as well as all articles for which the extended version was not available. Two readers evaluated all the articles and compiled a pre-compiled form accordingly. RESULTS: After a preliminary collection of 571 CEM publications, 118 articles were selected, relating to an overall population of 21,178 patients. From a total of 3063 CEMR publications, 356 articles relating to an overall population of 45,649 patients were selected. The most used contrast agents are Iohexol for CEM (39.83%) and Gadopentetic acid (Gd-DTPA) for CEMR (32.5%). Regarding the CEM contrast administration protocol, in 84.7% of cases a dose of 1.5 mL/kg was used with an infusion rate of 2–3 mL/s. Regarding the CEMR infusion protocol, in 71% of cases a dose of 1 mmol/kg was used at an infusion rate of 2–4 mL/s. Twelve out of 118 CEM articles reported allergic reactions, involving 29 patients (0.13%). In DCE-MRI, only one out of 356 articles reported allergic reactions, involving two patients (0.004%). No severe reactions were observed in either cohort of exams. CONCLUSIONS: CEM and CEMR are essential contrast methods to evaluate breast diseases. However, from the literature analysis, although there are preferences on the uses of the contrast agent (Iohexol for CESM, G-DTPA for CEMR), a wide range of molecules are still used in contrast methods, with different administration protocols. Based on the collected data, it is possible to state that both methods are safe, and no severe reactions were observed in our evaluation. Full article
(This article belongs to the Special Issue Advances in Diagnosis of Gynecological Cancers)
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7 pages, 2747 KiB  
Interesting Images
Neuroendocrine Breast Carcinoma: Interesting Images of an Underdiagnosed Entity
by Christoforos Kosmidis, Kassiani Boulogeorgou, Panagiota Roulia, Marios Dagher, Georgios Anthimidis, Georgios Petrakis, Charilaos Koulouris, Stylianos Mantalovas, Styliani Laskou, Vasiliki Magra, Vasileios Alexandros Karakousis, Christina Sevva, Eleni Paschou, Vasileios Stergios, Stylianos Kosmidis, Chrysi Maria Mystakidou, Vasiliki Theodorou, Nikolaos Iason Katsios, Triantafyllia Koletsa, Konstantinos Sapalidis and Isaak Kesisoglouadd Show full author list remove Hide full author list
Diagnostics 2024, 14(11), 1133; https://doi.org/10.3390/diagnostics14111133 - 29 May 2024
Viewed by 1115
Abstract
Breast cancer is the most common type of cancer of the female gender. A rare subtype of breast cancer is the invasive breast carcinoma (IBC) with neuroendocrine (NE) differentiation. Its incident is believed to be 0.1% to 5% of all breast cancers. We [...] Read more.
Breast cancer is the most common type of cancer of the female gender. A rare subtype of breast cancer is the invasive breast carcinoma (IBC) with neuroendocrine (NE) differentiation. Its incident is believed to be 0.1% to 5% of all breast cancers. We report a rare case of a 66-year old woman who presented with an isolated nodule of the left breast. The patient underwent modified radical mastectomy. Pathology revealed invasive breast carcinoma with neuroendocrine differentiation. Invasive breast carcinoma is an extremely rare group of neoplasms, the exact frequency of which cannot be determined with current data. Therefore, it is necessary for future studies to focus on the pathophysiology of this subtype of breast cancer and on the potential therapeutic approaches. Full article
(This article belongs to the Special Issue Advances in Diagnosis of Gynecological Cancers)
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