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

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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Publication Details

Journal
International Journal of Surgical Pathology
Published
2026-03-23
DOI
https://doi.org/10.1177/10668969261421955
Primary Topic
Breast Lesions and Carcinomas
Type
article
Field-Weighted Citation Impact
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article

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

Jonathan D. Marotti, Shaofeng Yan, Donald C. Green, Jason Ha et al.
International Journal of Surgical Pathology
Breast Lesions and Carcinomas
article

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

Jonathan D. Marotti, Shaofeng Yan, Donald C. Green, Jason Ha, Parth Shah
article en

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.

International Journal of Surgical Pathology
Dartmouth College (US), Dartmouth–Hitchcock Medical Center (US), Dartmouth Psychiatric Research Center (US), Dartmouth Cancer Center
Good health and well-being
Openalex Percentile: Top 14%
Breast Lesions and Carcinomas
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Metaplastic Carcinoma of the Breast With Melanocytic Differentiation: Case Report With Molecular Analysis — Jonathan D. Marotti, Shaofeng Yan, et al. · International Journal of Surgical Pathology (2026) | TGRS Research Map | TGRS