Phyllodes Tumors of the Breast: Classification, Molecular Insights, and Pathological Best Practices – A Comprehensive Narrative Review

• Chandrakant Halder

  General Surgery Resident

  Author

• Navneet Parashar

  Author

• Manoj Kumar Gupta

  Author

• Dayaram Meena

  Author

• pdf

Phyllodes tumors (PTs) are rare biphasic fibroepithelial neoplasms of the breast exhibiting a biological spectrum from benign to malignant, with significant implications for local recurrence and distant metastasis. This narrative review integrates contemporary evidence on epidemiology, pathogenesis, clinical presentation, radiological features, histopathological classification, immunohistochemical profiles, molecular alterations, differential diagnosis, and therapeutic strategies. PTs account for 0.3–1% of all breast tumors, predominantly affecting women aged 40–55 years, with higher incidence in East Asian populations. Molecular studies reveal early MED12 and RARA mutations shared with fibroadenomas, while TERT promoter mutations and progressive TP53, PIK3CA, and EGFR alterations drive malignant transformation. The WHO 5th edition classification remains the cornerstone, but refined diagnostic criteria (RDC) significantly improve prediction of metastatic potential by reclassifying up to 24% of borderline tumors as malignant. Core needle biopsy limitations and interobserver variability underscore the need for extensive surgical sampling and ancillary molecular testing. Wide local excision with ≥1 cm margins is standard; adjuvant radiotherapy reduces recurrence in high-risk cases, whereas chemotherapy shows limited efficacy. Emerging tools—including artificial intelligence–assisted imaging, 16-gene expression panels, and targeted therapies—promise enhanced diagnostic precision and personalized management. This review consolidates current best practices and highlights future directions for optimizing outcomes in this challenging neoplasm.

Copyright (c) 2025 Chandrakant Halder, Navneet Parashar, Manoj Kumar Gupta, Dayaram Meena (Author)

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