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A novel EWSR1-MYB fusion in an aggressive advanced breast adenoid cystic carcinoma with mixed classical and solid-basaloid components

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Abstract

Breast adenoid cystic carcinoma (AdCC) with a solid-basaloid component is rare. The solid-basaloid component is usually characterized by solid nests composed of basal-like cells with marked nuclear atypia, high mitotic activity, and necrosis. Given the rarity of such tumors, information on their clinicopathological and genomic characteristics is limited. Herein, we report a case of advanced breast cancer with a poor prognosis with histological and immunohistochemical characteristics of AdCC with a solid-basaloid component. For the solid-basaloid component, fluorescence in situ hybridization (FISH) analysis revealed rearrangement of the EWSR1 and MYB genes, and immunohistochemical staining indicated MYB positivity. Next-generation sequencing-based technology revealed a novel EWSR1-MYB fusion. To our knowledge, this is the first report of an EWSR1-MYB fusion in AdCC with a solid-basaloid component and a poor prognosis. Our findings may extend the genetic understanding of AdCC and aid in the clinical diagnosis of AdCC.

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Data Availability

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

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Funding

This work was supported by grants from the Changzhou Science and Technology Project (QN202114), a project funded by Changzhou Health Commission.

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Authors and Affiliations

  1. Department of Pathology, The Third Affiliated Hospital of Soochow University, Ju Qian Street 185, Changzhou, 213003, Jiangsu, China

    Ting Lei, Yongqiang Shi, Wenyue Da, Cunyan Xia & Hui Wang

Authors
  1. Ting Lei
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  2. Yongqiang Shi
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  3. Wenyue Da
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  4. Cunyan Xia
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  5. Hui Wang
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Contributions

T.L. analyzed the data and prepared the manuscript. T.L. performed the histopathological examinations. H.W. provided ultrasound data. Y.S. (Yongqiang Shi), C.X. (Cunyan Xia) and W.D. (Wenyue Da) carried out the molecular studies. H.W. was responsible for the diagnosis and revised the manuscript.

Corresponding author

Correspondence to Hui Wang.

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This study was approved by the The Third Affiliated Hospital of Soochow University Institutional Review Board.

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The authors declare no competing interests.

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Lei, T., Shi, Y., Da, W. et al. A novel EWSR1-MYB fusion in an aggressive advanced breast adenoid cystic carcinoma with mixed classical and solid-basaloid components. Virchows Arch 483, 717–722 (2023). https://doi.org/10.1007/s00428-023-03500-1

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  • DOI: https://doi.org/10.1007/s00428-023-03500-1

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