Malignant phyllodes tumour of the breast mimicking endometriosis

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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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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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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. Data availability Not appropriate. Code availability Not appropriate.

References

Md Nasir ND, Ng CCY, Rajasegaran V, Wong SF, Liu W, Ng GXP, Lee JY, Guan P, Lim JQ, Thike AA, Koh VCY, Loke BN, Chang KTE, Gudi MA, Lian DWQ, Madhukumar P, Tan BKT, Tan VKM, Wong CY, Yong WS, Ho GH, Ong KW, International Fibroepithelial Consortium, Tan P, Teh BT, Tan PH, Rahman NA, Nahar Begum SMK, Cheah PL, Chen CJ, dela Fuente E, Han A, Harada O, Kanomata N, Lee CS, Han Lee JY, Kamal M, Nishimura R, Ohi Y, Sawyer EJ, Teoh KH, Tsang AKH, Tsang JYS, Tse GMK, Yamaguchi R (2019) Genomic characterisation of breast fibroepithelial lesions in an international cohort. J Pathol 249:447–460 Chia Y, Thike AA, Cheok PY, Yong-Zheng Chong L, Man-Kit Tse G, Tan PH (2012) Stromal keratin expression in phyllodes tumours of the breast: a comparison with other spindle cell breast lesions. J Clin Pathol 65:339–347 Moloshok AA, Ivanko A (1984) Endometriosis of the breast (case report). Vopr Onkol 30:88–89 Li X, Zhang Y, Zhao L, Wang L, Wu Z, Mei Q, Nie J, Li X, Li Y, Fu X, Wang X, Meng Y, Han W (2014) Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes. Hum Mol Genet 23:6008–6021 Tan WJ, Chan JY, Thike AA, Lim JCT, Md Nasir ND, Tan JSY, Koh VCY, Lim WK, Tan J, Ng CCY, Rajasegaran V, Nagarajan S, Bay BH, Teh BT, Tan PH (2016) MED12 protein expression in breast fibroepithelial lesions: correlation with mutation status and oestrogen receptor expression. J Clin Pathol 69:858–865 Guo SW (2020) Cancer-associated mutations in endometriosis: shedding light on the pathogenesis and pathophysiology. Hum Reprod Update 26:423–449 Pareja F, Geyer FC, Kumar R, Selenica P, Piscuoglio S, Ng CKY, Burke KA, Edelweiss M, Murray MP, Brogi E, Weigelt B, Reis-Filho JS (2017) Phyllodes tumors with and without fibroadenoma-like areas display distinct genomic features and may evolve through distinct pathways. NPJ Breast Cancer 3:40 Author information Authors and Affiliations Contributions 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. Corresponding author Ethics declarations Ethics approval Not appropriate. Consent to participate Not appropriate. Consent for publication We thank the patient for her consent to genetic testing. Conflict of interest 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). Additional information Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions About this article Cite this article 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 Received: Revised: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s00428-021-03086-6

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Condition tags

endometriosis

MeSH descriptors

Breast Neoplasms Endometriosis Phyllodes Tumor Biomarkers, Tumor Biomarkers, Tumor Biomarkers, Tumor Biomarkers, Tumor Biopsy, Large-Core Needle Biopsy, Large-Core Needle Breast Neoplasms Breast Neoplasms Breast Neoplasms Breast Neoplasms Breast Neoplasms Diagnosis, Differential Diagnosis, Differential DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA Mutational Analysis

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