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The Genomic Landscape of Gynecological Cancers

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: closed (1 October 2025) | Viewed by 723

Special Issue Editor

Department of Pathology, Yale University School of Medicine, New Haven, CT 06520, USA
Interests: gynecological cancers; pathology cytopathology; tumor genomics

Special Issue Information

Dear Colleagues,

We are pleased to invite you to contribute to the Special Issue, The Genomic Landscape of Gynecological Cancers, in Cancers. Recent advances in genomic research have revolutionized our understanding of gynecological malignancies, including ovarian, endometrial, cervical, vaginal, and vulvar cancers. High-throughput sequencing and integrative multi-omics approaches have led to the identification of novel biomarkers, key oncogenic pathways, and potential therapeutic targets. These discoveries have paved the way for precision oncology, enabling the development of targeted therapies and improved patient stratification.

Aim of the Special Issue

This Special Issue aims to provide a comprehensive overview of the latest developments in the genomic and molecular landscape of gynecological cancers, highlighting advancements in tumor profiling, biomarker discovery, and novel therapeutic strategies.

Suggested Themes and Article Types

We welcome original research articles, reviews, and translational studies in the following areas (but not limited to):

  • Genomic alterations and molecular signatures in gynecological cancers
  • Biomarker discovery for early detection, prognosis, and treatment response
  • Tumor heterogeneity and evolution in gynecological malignancies
  • Resistance mechanisms to targeted and immunotherapies
  • Multi-omics approaches and computational biology applications
  • Translational research bridging genomic discoveries to clinical applications

We look forward to your valuable contributions to this Special Issue.

Dr. Tong Sun
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 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. Cancers 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 2900 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
  • tumor genomics
  • molecular profiling
  • precision oncology
  • targeted therapy
  • genetic alterations
  • multi-omics
  • tumor heterogeneity
  • biomarker discovery
  • translational research

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Published Papers (2 papers)

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Review

14 pages, 6455 KB  
Review
Molecular Classification of Endometrial Carcinomas: Review and Recent Updates
by Anita Kumari, Himani Kumar, Samuel E. Harvey, Deyin Xing and Zaibo Li
Cancers 2026, 18(1), 51; https://doi.org/10.3390/cancers18010051 - 24 Dec 2025
Viewed by 27
Abstract
Endometrial carcinoma (EC) continues to represent a major cause of gynecologic cancer–related mortality among women worldwide. Its multifactorial etiopathogenesis and underlying molecular heterogeneity have been the focus of extensive investigation. While traditional histological classification provides essential diagnostic insight, it is limited in predicting [...] Read more.
Endometrial carcinoma (EC) continues to represent a major cause of gynecologic cancer–related mortality among women worldwide. Its multifactorial etiopathogenesis and underlying molecular heterogeneity have been the focus of extensive investigation. While traditional histological classification provides essential diagnostic insight, it is limited in predicting prognosis and therapeutic response due to significant interobserver variability. Recent advances in molecular biology and cancer genomics have profoundly enhanced understanding of EC pathogenesis. The Cancer Genome Atlas (TCGA) project delineated four distinct molecular subtypes of EC, POLE ultra-mutated, microsatellite instability hypermutated (MSI-H), copy number low (CNL) and copy number high (CNH), each defined by unique genomic alterations, histopathologic features, and clinical behaviors. These molecular groups demonstrate significant prognostic and therapeutic implications, correlating with differential outcomes and treatment responses. This review summarizes current evidence on the genomic landscape of endometrial carcinoma and underscores the pivotal role of molecular classification in improving diagnostic accuracy, prognostic stratification, and personalized therapy. Ongoing research into molecular biomarkers holds promise for refining patient management and optimizing clinical outcomes. Full article
(This article belongs to the Special Issue The Genomic Landscape of Gynecological Cancers)
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27 pages, 4216 KB  
Review
The Evolving Molecular Landscape of Uterine Mesenchymal Tumors: Diagnostic and Therapeutic Implications
by Tong Sun
Cancers 2025, 17(24), 4012; https://doi.org/10.3390/cancers17244012 - 16 Dec 2025
Viewed by 281
Abstract
Uterine mesenchymal tumors encompass a diverse and diagnostically challenging group of neoplasms, including smooth muscle tumors, endometrial stromal tumors (ESS), perivascular epithelioid cell tumors (PEComas), inflammatory myofibroblastic tumors (IMTs), uterine tumor resembling ovarian sex cord tumor (UTROSCT), along with many other relatively rare [...] Read more.
Uterine mesenchymal tumors encompass a diverse and diagnostically challenging group of neoplasms, including smooth muscle tumors, endometrial stromal tumors (ESS), perivascular epithelioid cell tumors (PEComas), inflammatory myofibroblastic tumors (IMTs), uterine tumor resembling ovarian sex cord tumor (UTROSCT), along with many other relatively rare entities. Traditionally classified by histomorphology and immunophenotype, these tumors are now increasingly defined by recurrent genetic alterations that refine diagnosis and elucidate tumorigenesis. For example, leiomyosarcomas display complex genomic instability with frequent TP53, RB1, and ATRX mutations. Low grade-ESS are characterized by JAZF1::SUZ12 and other related fusions, whereas high-grade tumors harbor YWHAE::NUTM2 or ZC3H7B::BCOR fusions, and BCOR internal tandem duplication (ITD) alterations. PEComas frequently contain TSC1 or TSC2 mutations, leading to aberrant activation of the mTOR pathway. Beyond their diagnostic utility, these molecular signatures increasingly inform prognosis and highlight potential therapeutic targets, including CDK4/6 inhibition, PI3K/AKT/mTOR blockade, and immunotherapy. This review summarizes the evolving molecular landscape of uterine mesenchymal tumors, underscoring the value of integrating molecular testing into clinical practice to enhance diagnostic precision and enable personalized management of these rare yet clinically significant neoplasms. Full article
(This article belongs to the Special Issue The Genomic Landscape of Gynecological Cancers)
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