Not All Cases of Mammary Paget's Disease are Cytokeratin-7 Positive: A Challenging Diagnosis!

Kerschen, Anja;Dano, Hélène;Van Eeckhout, Pascal;Marot, Lilianne;Van Bockstal, Mieke
(2021) International Journal of Surgical Pathology — Vol. 29, n° 6, p. 631-634 (2021)

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Abstract
Mammary Paget's disease accounts for 1% to 3% of all breast tumors and manifests as a chronic eczematous lesion of the areolar skin. It can occur without any underlying neoplasia or can be present in association with an underlying invasive and/or in situ carcinoma of the breast. The present report describes a challenging nipple punch biopsy showing an infiltration of the lower third to two-thirds of the epidermis by large, ovoid, neoplastic cells. The morphology was consistent with mammary Paget's disease, although immunohistochemistry for cytokeratin-7 (CK7) was repeatedly negative. This resulted in an initial misdiagnosis and, subsequently, a delay in the patient's follow-up. Additional immunohistochemistry for GATA binding protein 3 (GATA3) and human epidermal growth factor receptor 2 (HER2), as well as a second opinion of a breast pathologist, resulted in the diagnosis of mammary Paget's disease. The aim of this article is to raise awareness among pathologists and prevent them from misdiagnosing CK7-negative Paget disease of the breast.
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Kerschen, A., Dano, H., Van Eeckhout, P., Marot, L., & Van Bockstal, M. (2021). Not All Cases of Mammary Paget’s Disease are Cytokeratin-7 Positive: A Challenging Diagnosis! International Journal of Surgical Pathology, 29(6), 631-634. https://doi.org/10.1177/10668969211002920 (Original work published 2021)