Advances in Genomics and Molecular Diagnostics in Gynecological Pathology

Dear Colleagues,

Recent advancements in the genomics characterization and molecular pathology of gynecological cancers have significantly enhanced our understanding of tumor development and impacted our diagnostic approaches and identification of therapeutic biomarkers. Germline and somatic tumor testing in gynecological neoplasms requires comprehensive genomic profiling to identify mutations, which can inform targeted therapy and familial risk assessment.

For ovarian cancer, molecular profiling has identified key mutations such as TP53, BRCA1/2, and homologous recombination deficiency, which are critical for guiding poly(ADP-ribose) polymerase inhibitors. The Cancer Genome Atlas has provided a comprehensive genomic landscape, identifying recurrent somatic mutations and copy number alterations that inform targeted therapies. The National Comprehensive Cancer Network (NCCN) guidelines recommend molecular classification of endometrial cancer into four subtypes. Identifying HER2 amplification in endometrial serous carcinomas has opened avenues for trastuzumab therapy. Cervical cancer management has also benefited from molecular insights, particularly programmed death ligand 1 (PD-L1) immunohistochemistry, to predict response to immune checkpoint inhibitors.

New molecular targets, such as POLE mutations, and analysis of the expression of antibody-conjugated targets, such as HER2, TROP2, and NECTIN2, are making their way into daily clinical practice. Therefore, the integration of molecular pathology into the clinical management of gynecological cancers is rapidly evolving, driven by advances in genomic technologies and a deeper understanding of tumor biology. This Special Issue aims to bring together cutting-edge original research and reviews that focus on the advances in molecular pathology of gynecological cancers, including, but not limited to, ovarian, endometrial, cervical, and vulvar cancers. By exploring the latest advances in tumor genomics, molecular diagnostics, biomarkers, therapeutic targets, and personalized medicine, this Special Issue provides a comprehensive overview of how molecular pathology shapes the future of gynecological oncology.

Dr. Maria Olinca
Dr. Radu Pirlog
Guest Editors

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