DNA Methylation Profiling : Current and Emerging Uses in Gynecologic Pathology - 06/08/26

Abstract |
DNA methylation profiling is emerging as a powerful ancillary molecular tool for tumor classification in gynecologic pathology. This article provides a practical overview of the technology and its emerging applications, with emphasis on diagnostically challenging settings including rare mesenchymal neoplasms (eg, uterine tumors resembling ovarian sex cord tumor, SMARCA4-deficient uterine sarcoma) and lineage-ambiguous tumors. Beyond classification, methylation profiling enables copy number analysis, tumor microenvironment deconvolution, epigenetic age estimation, and cell-free DNA-based detection, with growing relevance to gynecologic pathology, albeit mostly in research setting. Current barriers include limited access, incomplete classifier development for gynecologic entities, and the need for clinical validation.
Le texte complet de cet article est disponible en PDF.Keywords : DNA methylation profiling, Tumor classification, Molecular pathology, Gynecologic neoplasms, Uterine sarcoma, Epigenetics
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