Pai Hung-Liang, Hsu Wei-Ting, Chang Chia-Chi, Yeh Ming-Hsin
Department of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Division of Breast Surgery, Department of Surgery, Chung Shan Medical University Hospital, Taichung, Taiwan.
Discov Oncol. 2025 Mar 18;16(1):349. doi: 10.1007/s12672-025-02120-2.
Adenomyoepithelioma of the breast (AME) is a rare, biphasic tumor characterized by the coexistence of both epithelial and myoepithelial cell components, which can present as benign, atypical, or malignant forms. We present a 50-year-old female diagnosed with malignant AME (M-AME) exhibiting low-positive estrogen receptor (ER) expression of 5%, alongside pathogenic HRAS Q61R and PIK3CA H1047R mutations. Immunohistochemistry showed low-positive ER, negative progesterone receptor (PR), HER2, and a high Ki-67 index. Sanger sequencing identified HRAS and PIK3CA mutations. The tumor was staged as pT2N0M0 with no lymph node involvement. The patient underwent partial mastectomy, followed by sentinel lymph node biopsy, which showed no metastasis. Postoperatively, she received four cycles of adjuvant chemotherapy, followed by radiotherapy. The patient achieved disease-free survival at 10 months with no recurrence on imaging. This case highlights the challenges of ER classification in M-AME and highlights the significance of molecular profiling in guiding treatment. The concurrent HRAS and PIK3CA mutations suggest potential targeted therapies, emphasizing the importance of a multidisciplinary approach. Further research is needed to establish standardized treatment guidelines for M-AME.
乳腺腺肌上皮瘤（AME）是一种罕见的双相性肿瘤，其特征是上皮细胞和肌上皮细胞成分共存，可表现为良性、非典型或恶性形式。我们报告一例50岁女性，诊断为恶性AME（M-AME），雌激素受体（ER）表达低阳性率为5%，同时存在致病性HRAS Q61R和PIK3CA H1047R突变。免疫组化显示ER低阳性、孕激素受体（PR）、HER2阴性，Ki-67指数高。桑格测序鉴定出HRAS和PIK3CA突变。肿瘤分期为pT2N0M0，无淋巴结受累。患者接受了保乳手术，随后进行前哨淋巴结活检，结果显示无转移。术后，她接受了四个周期的辅助化疗，随后进行放疗。患者在10个月时实现无病生存，影像学检查无复发。该病例突出了M-AME中ER分类的挑战，并强调了分子谱分析在指导治疗中的重要性。HRAS和PIK3CA同时突变提示潜在的靶向治疗，强调了多学科方法的重要性。需要进一步研究以建立M-AME的标准化治疗指南。
