Current perspectives on diagnosis and management of primary and secondary breast endometriosis and potential risk of breast cancer

Alexandra G Marneri, Efstathios T Pavlidis, Kalliopi E. Stavrati, Christina Mouratidou, Athanasios Kofinas, Irida Konstantopoulou, T. Pavlidis
In: World Journal of Clinical Oncology · 2026 · vol. 17(4) · doi:10.5306/wjco.v17.i4.118631 · W7154962802
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This review discusses the rare diagnosis and management of breast endometriosis, its potential link to increased breast cancer risk through various molecular mechanisms, and its histopathological identification and surgical treatment.

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Abstract

Breast endometriosis represents an exceptionally rare extragenital manifestation of ectopic endometrial tissue, with only a few histologically confirmed breast cases reported worldwide. There appears to be a potential relationship between endometriosis and an increased risk of developing breast cancer. The proposed mechanisms include chronic inflammation, oxidative stress, hormonal dysregulation, and genetic factors such as mutations in the GATA binding protein 2, phosphatase and tensin homolog, Kirsten rat sarcoma viral oncogene homolog, and AT-rich interactive domain-containing protein 1A genes, as well as alterations in circulating microRNAs, primarily miR-199a and the let-7 family of miRNAs. However, the molecular mechanisms underlying this association are not yet fully understood. A structured literature search revealed a small number of primary and secondary breast cases, all of which were confirmed by histopathology. Primary lesions occurred spontaneously, whereas secondary cases were associated with prior breast surgery, suggesting possible implantation of endometrial tissue during surgical manipulation. Morphologic diagnosis relies on identifying endometrial glands and stroma, supported by immunoreactivity for CD10 and paired box gene 8 and negativity for GATA binding protein 2. Clinically, lesions may present as palpable nodules or painful masses, often mimicking malignancy or fat necrosis, particularly in patients with a history of reconstructive or reduction surgery. Complete surgical excision was curative in all reported cases, with no recurrence or malignant transformation documented during follow-up. Although exceedingly rare, recognition of this entity is essential to avoid misdiagnosis and to enhance the understanding of the mechanisms underlying ectopic endometrial implantation in extrapelvic sites such as the breast.

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Condition tags

endometriosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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