乳腺恶性分叶状肿瘤诊断与治疗研究进展

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

摘要:

恶性分叶状肿瘤（MPT）是乳腺罕见的纤维上皮性肿瘤，具有较高的局部复发和远处转移风险，其诊断及治疗策略仍存在诸多争议。本文结合近年来国内外相关研究进展，对MPT的临床诊断、病理及分子特征、治疗现状和未来发展方向进行综述。影像学检查有助于术前评估，但病理学仍是确诊金标准；空心针穿刺活检存在一定假阴性率和组织学分级低估风险。近年来，基因组学研究发现，TERT启动子、CDKN2A、TP53、NF1、PIK3CA及RB1等基因异常在MPT中较为常见，为靶向治疗探索提供了新的方向。治疗方面，获得阴性切缘的手术切除仍是首选方案，常规腋窝手术通常无必要。辅助放疗可改善局部控制，但其对生存获益尚缺乏高质量证据；辅助化疗及系统治疗的疗效有限，目前主要参照软组织肉瘤治疗模式。随着多组学技术的发展，分子分型、靶向治疗及免疫治疗有望为复发转移性MPT提供新的治疗策略。未来需通过多中心前瞻性研究进一步明确风险分层体系及个体化治疗方案，以优化患者预后。

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.