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Background <p>Mammary adenoid cystic carcinoma (AdCC) is a rare subtype of invasive breast cancer. Due to its low incidence, the clinicopathological features of mammary AdCC remain incompletely understood. This study aimed to investigate the clinicopathological and molecular characteristics, therapeutic regimens, and prognostic outcomes associated with different subtypes of mammary AdCC.</p> Methods <p>A total of 25 archived specimens of mammary AdCC were collected from the pathology departments of Nanchang People’s Hospital and Zhengzhou People’s Hospital between January 2013 and December 2024. Histomorphological evaluation, immunohistochemical (IHC) analysis, and molecular testing were performed to evaluate the clinicopathological features and prognostic outcomes. Fisher’s exact test was used to analyze the relationship between HER2 status and clinicopathological features.</p> Results <p>All 25 patients were female, with a mean age of 57.04 years. The tumors manifested as solitary solid nodules, ranging in maximum diameter from 1 to 4.5&#xa0;cm. Histologically, the tumors were classified as classic adenoid cystic carcinoma (C-AdCC) (21/25), solid-basaloid AdCC (SB-AdCC) (2/25) and AdCC with high-grade transformation (2/25), with Nottingham grade II being the most common (18/25). Immunohistochemical (IHC) analysis demonstrated that most cases exhibited a triple-negative phenotype, characterized by ER-negative (21/25), PR-negative (25/25), and HER2 negativity (IHC score of 0, 1+, or 2 + with no amplification detected by FISH) (25/25). HER2-low expression (IHC score of 1+/2 + with FISH-confirmed non-amplification) was observed in 11 cases (11/25). Neuroendocrine markers were negative in all cases. MYB gene abnormalities, including break-parts or fusion, were identified in 14/25 cases. A statistically significant positive correlation (<i>P</i> &lt; 0.05) was observed between HER2-low expression and MYB gene abnormalities. Axillary lymph node metastasis was observed in 2/25 patients. Following treatment, which included various surgical modalities with or without neoadjuvant chemotherapy, and a follow-up period of 6–136 months, 21 patients remained alive without recurrence or metastasis, 1 patient died at 60 months, and 3 patients were lost to follow-up.</p> Conclusions <p>These findings support the classification of mammary AdCC as a distinct triple-negative breast cancer (TNBC), with MYB gene abnormalities showing a positive correlation with HER2 status. Notably, mammary AdCC should not be indiscriminately categorized as low-grade TNBC. Precise pathological subtyping of AdCC is critical for guiding clinical management.</p>

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Analysis of clinicopathological features and clinical significance in 25 cases of mammary adenoid cystic carcinoma

  • 期刊论文

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  • 发表日期：

    2025年10月6日

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  • Xiaoyan Xu,
  • Shasha Yu,
  • Wei Qu,
  • Yuexia Chen,
  • Liu Yang

摘要

Background

Mammary adenoid cystic carcinoma (AdCC) is a rare subtype of invasive breast cancer. Due to its low incidence, the clinicopathological features of mammary AdCC remain incompletely understood. This study aimed to investigate the clinicopathological and molecular characteristics, therapeutic regimens, and prognostic outcomes associated with different subtypes of mammary AdCC.

Methods

A total of 25 archived specimens of mammary AdCC were collected from the pathology departments of Nanchang People’s Hospital and Zhengzhou People’s Hospital between January 2013 and December 2024. Histomorphological evaluation, immunohistochemical (IHC) analysis, and molecular testing were performed to evaluate the clinicopathological features and prognostic outcomes. Fisher’s exact test was used to analyze the relationship between HER2 status and clinicopathological features.

Results

All 25 patients were female, with a mean age of 57.04 years. The tumors manifested as solitary solid nodules, ranging in maximum diameter from 1 to 4.5 cm. Histologically, the tumors were classified as classic adenoid cystic carcinoma (C-AdCC) (21/25), solid-basaloid AdCC (SB-AdCC) (2/25) and AdCC with high-grade transformation (2/25), with Nottingham grade II being the most common (18/25). Immunohistochemical (IHC) analysis demonstrated that most cases exhibited a triple-negative phenotype, characterized by ER-negative (21/25), PR-negative (25/25), and HER2 negativity (IHC score of 0, 1+, or 2 + with no amplification detected by FISH) (25/25). HER2-low expression (IHC score of 1+/2 + with FISH-confirmed non-amplification) was observed in 11 cases (11/25). Neuroendocrine markers were negative in all cases. MYB gene abnormalities, including break-parts or fusion, were identified in 14/25 cases. A statistically significant positive correlation (P < 0.05) was observed between HER2-low expression and MYB gene abnormalities. Axillary lymph node metastasis was observed in 2/25 patients. Following treatment, which included various surgical modalities with or without neoadjuvant chemotherapy, and a follow-up period of 6–136 months, 21 patients remained alive without recurrence or metastasis, 1 patient died at 60 months, and 3 patients were lost to follow-up.

Conclusions

These findings support the classification of mammary AdCC as a distinct triple-negative breast cancer (TNBC), with MYB gene abnormalities showing a positive correlation with HER2 status. Notably, mammary AdCC should not be indiscriminately categorized as low-grade TNBC. Precise pathological subtyping of AdCC is critical for guiding clinical management.