Advances in the diagnosis and treatment of malignant phyllodes tumors of the breast

Abstract:

Malignant phyllodes tumor (MPT) is a rare fibroepithelial neoplasm of the breast characterized by a relatively high risk of local recurrence and distant metastasis. However, controversies remain regarding its diagnosis and optimal management. This review summarizes recent advances in the clinical diagnosis, pathological and molecular characteristics, treatment strategies, and future perspectives of MPT. Imaging modalities provide valuable preoperative information, whereas histopathological examination remains the gold standard for diagnosis. Core needle biopsy is associated with a certain false-negative rate and may underestimate tumor grade. Recent genomic studies have identified recurrent alterations involving the TERT promoter, CDKN2A, TP53, NF1, PIK3CA, and RB1, providing potential targets for precision therapy. Surgical excision with negative margins remains the cornerstone of treatment, and routine axillary surgery is generally unnecessary. Adjuvant radiotherapy may improve local control, although evidence supporting a survival benefit remains limited. The efficacy of adjuvant chemotherapy and systemic therapy is still uncertain, and current treatment strategies are largely extrapolated from soft-tissue sarcoma management. Advances in multi-omics technologies are expected to facilitate molecular classification and promote the development of targeted and immune-based therapies. Future multicenter prospective studies are warranted to establish risk-stratification systems and individualized treatment strategies for improving patient outcomes.