Clinicopathological, immunohistochemical and molecular features of acinic cell carcinoma of the breast

Yang,Xinhua; Liu,Fangyun; Li,Congyang; Li,Zuo; Wang,Peipei; Zhang,Meng; Liu,Yanfeng; Zhou,Caiwen; Li,Yuying; Chai,Zhenzhen; Gu,Xiaoguang; Xiao,Xueqing; Li,Guoxia

doi:10.3892/ol.2024.14241

Clinicopathological, immunohistochemical and molecular features of acinic cell carcinoma of the breast

Authors:
- Xinhua Yang
- Fangyun Liu
- Congyang Li
- Zuo Li
- Peipei Wang
- Meng Zhang
- Yanfeng Liu
- Caiwen Zhou
- Yuying Li
- Zhenzhen Chai
- Xiaoguang Gu
- Xueqing Xiao
- Guoxia Li
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Affiliations: Department of Oncology, People's Liberation Army 989 Hospital, Pingdingshan, Henan 467000, P.R. China, Department of Pathology, Hangzhou Fenlan Medical Laboratory, Hangzhou, Zhejiang 310056, P.R. China, Department of Pathology, People's Liberation Army 989 Hospital, Pingdingshan, Henan 467000, P.R. China, Department of Endocrinology, People's Liberation Army 989 Hospital, Pingdingshan, Henan 467000, P.R. China, Department of Radiology, People's Liberation Army 989 Hospital, Pingdingshan, Henan 467000, P.R. China, Department of Ultrasonics, People's Liberation Army 989 Hospital, Pingdingshan, Henan 467000, P.R. China, Department of General Surgery, People's Liberation Army 989 Hospital, Pingdingshan, Henan 467000, P.R. China, Department of Medical Area, People's Liberation Army 989 Hospital, Pingdingshan, Henan 467000, P.R. China, Department of Pathology, Minhang Hospital, Fudan University, Shanghai 201199, P.R. China
Published online on: January 18, 2024 https://doi.org/10.3892/ol.2024.14241
Article Number: 107
Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Breast acinic cell carcinoma (ACC) is a rare subtype of breast cancer. Accurate diagnosis of ACC using core needle biopsy (CNB) is pivotal for the use of effective treatments and patient prognosis. In the present study, a detailed analysis of the morphological, immunohistochemical and gene mutation features of 2 cases of ACC was performed. CNB was performed prior to surgical excision. The breast ACC in the present cases exhibited overt burrowing labyrinthine networks or ‘hand‑holding‑hand’ features. The tumor cells in both of the present cases expressed cytokeratin (CK)7, S100 and CK5/6, but were negative for p63, estrogen receptor and progesterone receptor. GATA binding protein 3 was positive in case 1 but negative in case 2. Fluorescence in situ hybridization indicated no ETS variant transcription factor 6 break‑apart probe detection. Next‑generation sequencing results revealed the same mutation and a similar abundance in exon 27 (NM_005120.2; c.3817G>T; p.A1273S) of the mediator of RNA polymerase II transcription, subunit 12 homolog (MED12) gene in both patients. To conclude, the findings of the present study suggested that recognition of this rare ‘hand‑holding‑hand’ structure could potentially be beneficial for avoiding patient misdiagnosis. In addition, it could be suggested that a mutation in the MED12 exon 27 was associated with the formation of a burrowing labyrinthine network or ‘hand‑holding‑hand’ feature.

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