Malignant phyllodes tumour of the breast mimicking endometriosis
A malignant phyllodes tumor mimicking endometriosis was identified in a 63-year-old woman, exhibiting similar KMT2D and SETD2 mutations in both components.
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This case report describes a 63-year-old woman with a clinically malignant breast mass in whom core biopsy showed endometriosis-like features. At excision, the lesion contained GATA3- and estrogen receptor–positive glandular elements without a myoepithelial layer, along with fibroepithelial areas showing stromal overgrowth, frequent mitoses, and an invasive margin consistent with a malignant phyllodes tumour. The study found KMT2D and SETD2 mutations in both the conventional phyllodes tumour and the endometriosis-like areas, noting that these genes have also been described in endometriosis, though the authors emphasize diagnostic pitfall without broader validation. This paper is centrally about endometriosis-like mimicry in malignant phyllodes tumour — it documents endometriosis-like areas that were molecularly linked to the phyllodes tumour and discusses implications for endometriosis-related differential diagnosis.
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Cites (3)
- Cancer-associated mutations in endometriosis: shedding light on the pathogenesis and pathophysiology 2019
- Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes 2014
- [Endometriosis of the breast (case report)] 1984
Cited by (1)
References (7)
- Cancer-associated mutations in endometriosis: shedding light on the pathogenesis and pathophysiology via openalex
- [Endometriosis of the breast (case report)] via openalex
- Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes via openalex
- W2969155706 via openalex
- W2324593139 via openalex
- W2137386739 via openalex
- W2761574203 via openalex
Cited by (1)
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- europepmc
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- openalex
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- pubmed
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