Summary

Myofibroblastoma (MFB) is a rare benign breast tumor, predominantly diagnosed in older men and postmenopausal women. The epithelioid cell subtype, although less common, may represent a diagnostic challenge of malignancy. This paper presents an unusual case of epithelioid cell MFB in a 38-year-old woman and explores the role of molecular cytogenetic analysis in confirming the diagnosis in ambiguous cases. A 38-year-old woman presented with a palpable left breast mass, noticed two months prior. Mammography and ultrasound revealed a mass in the retroareolar region. Ultrasound-guided core biopsy indicated a bland-looking epithelioid cell lesion (diagnostic category: B3). Histological examination of surgical specimen showed an epithelioid cell neoplasm raising differential diagnosis between an epithelioid cell leiomyoma and MFB. Fluorescence in situ hybridization (FISH) revealed mono-allelic deletions in the FOXO1, RB1, and D13S319 loci, which were found in 33%, 43% and 48% of analyzed nuclei, respectively. The case herein presented emphasizes the diagnostic utility of FISH in diagnosing rare mesenchymal breast tumors.

Downloads

PDF
Authors

Giuseppe Broggi - Department of Medical and Surgical Sciences and Advanced Technologies “G.F. Ingrassia”, Anatomic Pathology, University of Catania, 95123 Catania, Italy

Serena Salzano - Department of Medical and Surgical Sciences and Advanced Technologies “G.F. Ingrassia”, Anatomic Pathology, University of Catania, 95123 Catania, Italy

Jayati Mallick - Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania.

Jinglan Liu - Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania.

Juan Palazzo - Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania.

Letizia Lucenti - Center of Experimental Oncology and Hematology, A.O.U. Policlinico "G. Rodolico-S. Marco", 95123 Catania, Italy.

Gaetano Magro - Department of Medical and Surgical Sciences and Advanced Technologies “G.F. Ingrassia”, Anatomic Pathology, University of Catania, 95123 Catania, Italy

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Copyright

Copyright (c) 2026 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology

How to Cite
Broggi, G., Salzano, S., Mallick, J., Liu, J., Palazzo, J., Lucenti, L., & Magro, G. (2026). Epithelioid cell myofibroblastoma of the breast: Diagnostic role of FISH analysis. Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology, 118(4). https://doi.org/10.32074/1591-951X-2162
  • Abstract viewed - 0 times
  • PDF downloaded - 0 times