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March 25, 2026International Journal of Surgical Pathology0 citations

Metaplastic Carcinoma of the Breast With Melanocytic Differentiation: Case Report With Molecular Analysis

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JHJason HaSYShaofeng YanDGDonald C. Green

Key Points

  • The study aims to elucidate the molecular characteristics and treatment responses of metaplastic breast carcinoma with melanocytic differentiation.
  • Presented a case of metaplastic breast carcinoma diagnosed as malignant melanoma on biopsy.
  • Administered neoadjuvant immunotherapy to the patient, followed by surgical intervention.
  • Performed molecular testing to identify genetic alterations in both epithelial and melanocytic tumor components.
  • Molecular testing revealed shared gene alterations between the epithelial and melanocytic components.
  • Following immunotherapy, an increase in tumor-infiltrating lymphocytes was noted in the melanocytic component.

Abstract

Metaplastic carcinoma of the breast with melanocytic differentiation is an exceedingly rare tumor. We describe an additional metaplastic breast carcinoma with melanocytic differentiation that was initially diagnosed as malignant melanoma on core biopsy. The patient received neoadjuvant immunotherapy. The surgical specimen demonstrated closely associated epithelial and melanocytic components that had differing, but partially overlapping, immunohistochemical profiles. Molecular testing of the 2 components identified shared alterations in a few genes, supporting a clonal relationship. Following therapy, the melanocytic component showed an increase in tumor-infiltrating lymphocytes.

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Cite This Study

Ha et al. (2026) studied this question.

synapsesocial.com/papers/69c37b33b34aaaeb1a67d527https://doi.org/10.1177/10668969261421955
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