Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival

Abstract 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...

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Main Authors: Hung-Liang Pai, Wei-Ting Hsu, Chia-Chi Chang, Ming-Hsin Yeh
Format: Article
Language:English
Published: Springer 2025-03-01
Series:Discover Oncology
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Online Access:https://doi.org/10.1007/s12672-025-02120-2
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author Hung-Liang Pai
Wei-Ting Hsu
Chia-Chi Chang
Ming-Hsin Yeh
author_facet Hung-Liang Pai
Wei-Ting Hsu
Chia-Chi Chang
Ming-Hsin Yeh
author_sort Hung-Liang Pai
collection DOAJ
description Abstract 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.
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publishDate 2025-03-01
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series Discover Oncology
spelling doaj-art-d57027d8c44f4ef5a1e2e712960b3d362025-08-20T03:41:49ZengSpringerDiscover Oncology2730-60112025-03-011611610.1007/s12672-025-02120-2Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survivalHung-Liang Pai0Wei-Ting Hsu1Chia-Chi Chang2Ming-Hsin Yeh3Department of Medicine, Chung Shan Medical UniversityDepartment of Medicine, Chung Shan Medical UniversityDepartment of Medicine, Chung Shan Medical UniversityDivision of Breast Surgery, Department of Surgery, Chung Shan Medical University HospitalAbstract 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.https://doi.org/10.1007/s12672-025-02120-2AdenomyoepitheliomaPIK3CAHRAS Q61Estrogen receptorSanger sequencing
spellingShingle Hung-Liang Pai
Wei-Ting Hsu
Chia-Chi Chang
Ming-Hsin Yeh
Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival
Discover Oncology
Adenomyoepithelioma
PIK3CA
HRAS Q61
Estrogen receptor
Sanger sequencing
title Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival
title_full Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival
title_fullStr Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival
title_full_unstemmed Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival
title_short Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival
title_sort targeting malignant adenomyoepithelioma of the breast clinical insights on multimodal therapy and disease free survival
topic Adenomyoepithelioma
PIK3CA
HRAS Q61
Estrogen receptor
Sanger sequencing
url https://doi.org/10.1007/s12672-025-02120-2
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