Molecular Pathology and Diagnostic Biomarkers of Gynaecological Cancers

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

Deadline for manuscript submissions: 30 June 2025 | Viewed by 512

Special Issue Editors


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Guest Editor

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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
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Special Issue Information

Dear Colleagues,

We are pleased to invite you to submit research articles and reviews to our Special Issue titled, “Molecular Pathology and Diagnostic Biomarkers of Gynaecological Cancers”.

Gynecological cancers are considered one of the most common causes of mortality in women. Often, valid screening approaches are still lacking and current treatment strategies include conventional chemotherapy and radiotherapy; however, recently big strides have been made in the field of targeted therapies. Overall, the role of molecular pathology in the management of advanced-stage malignancies has rapidly evolved. Numerous different genomic alterations have been described as potential targets for personalized therapies. Therefore, the identification and correct standardized assessment of predictive and diagnostic biomarkers is pivotal for adequate selection of patients as eligible candidates for targeted therapies. In this Special Issue, we would like to discuss methods, findings, and, eventually, a new proposed scoring system for molecular biomarkers that will help in the early diagnosis, differential diagnosis, prognostic definition, treatment decision-making, and drug resistance prediction in gynecological malignancies. Ongoing research is warranted to improve the clinical outcome of affected patients. In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following:

  • Prognostic risk stratification;
  • Early diagnosis;
  • Differential diagnosis;
  • Targeted therapy;
  • Molecular classification.

We look forward to receiving your contributions.

Dr. Angela Santoro
Dr. Gian Franco Zannoni
Guest Editors

Manuscript Submission Information

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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.

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Keywords

  • prognostic risk stratification
  • early diagnosis
  • differential diagnosis
  • targeted therapy
  • molecular classification

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Published Papers (1 paper)

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15 pages, 1017 KiB  
Systematic Review
Clinicopathological Comparison Between GREB1- and ESR1-Rearranged Uterine Tumors Resembling Ovarian Sex Cord Tumors (UTROSCTs): A Systematic Review
by Livia Maccio, Damiano Arciuolo, Angela Santoro, Antonio Raffone, Diego Raimondo, Susanna Ronchi, Nicoletta D’Alessandris, Giulia Scaglione, Michele Valente, Belen Padial Urtueta, Francesca Addante, Nadine Narducci, Emma Bragantini, Jvan Casarin, Giuseppe Angelico, Stefano La Rosa, Gian Franco Zannoni and Antonio Travaglino
Diagnostics 2025, 15(6), 792; https://doi.org/10.3390/diagnostics15060792 - 20 Mar 2025
Viewed by 349
Abstract
Introduction: Among uterine tumors resembling ovarian sex cord tumors (UTROSCTs), it has been suggested that GREB1-rearranged cases are biologically distinct from ESR1-rearranged cases and might be considered as a separate entity. Objectives: The aim of this systematic review was to assess [...] Read more.
Introduction: Among uterine tumors resembling ovarian sex cord tumors (UTROSCTs), it has been suggested that GREB1-rearranged cases are biologically distinct from ESR1-rearranged cases and might be considered as a separate entity. Objectives: The aim of this systematic review was to assess the difference between GREB1- and ESR1-rearranged UTROSCTs with regard to several clinico-pathological parameters. Methods: Three electronic databases were searched from their inception to February 2025 for all studies assessing the presence of GREB1 and ESR1 rearrangements in UTROSCTs. Exclusion criteria comprised overlapping patient data, case reports, and reviews. Statistical analysis was performed to compare clinicopathological variables between GREB1- and ESR1-rearranged UTROSCTs. Dichotomous variables were compared by using Fisher’s exact test; continuous variables were compared by using Student’s t-test. A p-value < 0.05 was considered significant. Results: Six studies with 88 molecularly classified UTROSCTs were included. A total of 36 cases were GREB1-rearranged, and 52 cases were ESR1-rearranged. GREB1-rearranged UTROSCTs showed a significantly older age (p < 0.001), larger tumor size (p = 0.002), less common submucosal/polypoid growth (p = 0.005), higher mitotic index (p = 0.010), more common LVSI (p = 0.049), and higher likelihood to undergo hysterectomy (p = 0.008) compared to ESR1-rearranged cases. No significant differences were detected with regard to margins, cytological atypia, necrosis, retiform pattern, and rhabdoid cells. No significant differences were found in the immunohistochemical expression of any of the assessed markers (wide-spectrum cytokeratins, α-inhibin, calretinin, WT1, CD10, CD56, CD99, smooth muscle actin, desmin, h-caldesmon, Melan-A/MART1, SF1, or Ki67). GREB1-rearranged UTROSCTs showed significantly lower disease-free survival compared to ESR1-rearranged UTROSTCs (p = 0.049). Conclusions: In conclusion, GREB1-rearranged UTROSCTs occur at an older age, are less likely to display a submucosal/polypoid growth, and exhibit larger size, a higher mitotic index, more common lymphovascular space invasion, and lower disease-free survival compared to ESR1-rearranged UTROSCTs. Nonetheless, the similar immunophenotype suggests that they belong to the same tumor family. Further studies are necessary to confirm this point. Full article
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