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Multiplex PCR analysis of apocrine lesions shows frequent PI3K–AKT pathway mutations in both benign and malignant apocrine breast tumors

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Abstract

Pathological diagnosis of intraductal apocrine lesions can be challenging, because even benign apocrine lesions often show atypical cytology, and immunohistochemistry is of little assistance. A new diagnostic method for apocrine lesions is desirable. The mutations present in apocrine lesions have not been well studied. We performed a MassARRAY multiplex polymerase chain reaction (PCR) study of benign and malignant apocrine lesions, which included 152 mutations of 18 genes. We found that four of 11 benign lesions showed AKT1 or PIK3CA mutations, one of four noninvasive apocrine carcinomas showed a FBX4 mutation, two of 15 invasive apocrine carcinomas showed a PIK3CA mutation, and one invasive apocrine carcinoma showed both PIK3CA and TP53 mutations. The mutation frequency did not differ significantly between benign and malignant lesions (p = 0.683). We demonstrated that both benign and malignant apocrine lesions may contain mutations of genes in the PI3K–AKT pathway, this pathway could be a good therapeutic target of these diseases.

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Acknowledgements

This study was supported by grants from Kawasaki Medical School (No. 25K17). The authors thank Hiroko Murakami for her excellent secretarial support and Megumi Kuriyama for her technical support.

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Authors and Affiliations

  1. Department of Pathology, St. Luke’s International Hospital, Akashi-cho 9-1, Chuo-ku, Tokyo, 104-8560, Japan

    Naoki Kanomata

  2. Department of Pathology, Kawasaki Medical School, Kurashiki, Okayama, Japan

    Naoki Kanomata & Takuya Moriya

  3. Department of Pathology and Laboratory Medicine, Kurume University Medical Center, Kurume, Fukuoka, Japan

    Rin Yamaguchi

  4. Department of Breast and Thyroid Surgery, Kawasaki Medical School, Kurashiki, Japan

    Junichi Kurebayashi

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  1. Naoki Kanomata
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Correspondence to Naoki Kanomata.

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Kanomata, N., Yamaguchi, R., Kurebayashi, J. et al. Multiplex PCR analysis of apocrine lesions shows frequent PI3K–AKT pathway mutations in both benign and malignant apocrine breast tumors. Med Mol Morphol 53, 15–20 (2020). https://doi.org/10.1007/s00795-019-00226-5

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