DNA methylation profiling enables subclassification of mucinous ovarian carcinoma and distinguishes it from extraovarian mucinous metastases

TG Calina; E Grafenhorst; S Schallenberg; M Möbs; B Daenekas; AA Sabo; BQ Chen; I Koch; T Janik; M Churchman; C Gourley; EL Christie; C Vasilescu; V Herlea; WD Schmitt; N Leopold; F Heitz; A Vlaski; Y Tolkach; F Bremmer; F Klauschen; R Büttner; P Ströbel; E Burandt; G Sauter; FL Heppner; ET Taube; J Sehouli; IE Braicu; P Euskirchen; D Horst; KL Gorringe; D Capper; MP Dragomir

Journal article

DNA methylation profiling enables subclassification of mucinous ovarian carcinoma and distinguishes it from extraovarian mucinous metastases

TG Calina, E Grafenhorst, S Schallenberg, M Möbs, B Daenekas, AA Sabo, BQ Chen, I Koch, T Janik, M Churchman, C Gourley, EL Christie, C Vasilescu, V Herlea, WD Schmitt, N Leopold, F Heitz, A Vlaski, Y Tolkach, F Bremmer Show all

Cell Reports Medicine | Elsevier BV | Published : 2026

DOI: 10.1016/j.xcrm.2026.102941

Open access

Abstract

Mucinous ovarian carcinoma (MOC) is an epithelial ovarian cancer subtype that is frequently misclassified as extraovarian mucinous metastasis (EOM) because of overlapping features. To address this diagnostic challenge, we perform genome-wide DNA methylation profiling of 58 MOCs, 38 EOMs, and 18 mucinous borderline ovarian tumors (mBOTs) collected from six institutions. Methylation analysis defines two mBOT groups, one epigenetically similar to normal ovary and one resembling MOC. Unsupervised clustering reveals two distinct MOC methylation subtypes with potential prognostic relevance in the internal cohort. Using these data together with 389 external profiles, we develop and validate a three..

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University of Melbourne Researchers

A/Prof Elizabeth Christie Author

Prof Kylie Gorringe Author

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Keywords

Mucinous Borderline Ovarian Tumor

Mucinous Ovarian Cancer

Cancer Genomics

Women'S Health

3211 Oncology and Carcinogenesis

Machine Learning and Artificial Intelligence

Ovarian Cancer

32 Biomedical and Clinical Sciences

Human Genome

Genetics

Molecular Subtypes