Abstract
A 63-year-old woman presented with a clinically malignant mass. Core biopsy showed features resembling endometriosis. The glands were GATA3 and oestrogen receptor positive consistent with mammary origin and had no myoepithelial layer. The excision also showed a fibroepithelial component with stromal overgrowth, frequent mitoses and invasive margin consistent with a malignant phyllodes tumour. KMT2D and SETD2 mutations were present in both the conventional phyllodes tumour and endometriosis-like areas and are also described in endometriosis raising interesting questions about these lesions. This unusual pattern is a potential diagnostic pitfall, so it is helpful to be aware of it.
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References
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AHSL, UZ, RA and PHT reviewed the pathology and wrote the pathology section. MJH wrote the clinical section. NDMN, CCYN and BTT did the molecular analysis and with PHT wrote the molecular section.
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We thank the patient for her consent to genetic testing.
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BTT and PHT jointly hold patent applications for PCT/SG2015/050107 (Breast fibroadenoma susceptibility mutations and use thereof) and PCT/SG2015/050368 (method and kit for pathologic grading of breast neoplasms).
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Lee, A.H.S., Zanetto, U., Awasthi, R. et al. Malignant phyllodes tumour of the breast mimicking endometriosis. Virchows Arch 479, 1051–1053 (2021). https://doi.org/10.1007/s00428-021-03086-6
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DOI: https://doi.org/10.1007/s00428-021-03086-6