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Clear Cell Carcinoma in the Oral Cavity with Three Novel Types of EWSR1-ATF1 Translocation: A Case Report

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Abstract

Clear cell carcinoma (CCC) is a rare epithelial malignant tumor of the salivary glands. It is characterized by tumor cells with clear cytoplasm, hyalinized stroma, and most importantly the fusion genes EWSR1-ATF1, EWSR1-CREM, and EWSR1-PLAG1. Break-apart FISH has been performed for multiple CCC cases, but direct sequencing analysis has been performed in relatively few. Herein, we report an interesting case of CCC harboring three EWSR1-ATF1 translocations: EWSR1 exon 8-ATF1 exon 4, EWSR1 exon 7-ATF1 exon 4, and EWSR1 exon 7-ATF1 exon 5. This case indicates the possibility of independent EWSR1-ATF1 gene translocations, and could provide insight into CCC tumorgenesis.

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Data Availability

The data in this study are available from the corresponding author, Eiichi Morii, upon reasonable request.

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Funding

The authors have no funding, financial relationship.

Author information

Authors and Affiliations

  1. Department of Pathology, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan

    Satoshi Nojima, Masaharu Kohara & Eiichi Morii

  2. Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, 3-1-69 Otemae, Chuo-ku, Osaka, 541-8567, Japan

    Hiroshi Harada & Shin-Ichi Nakatsuka

  3. Department of Oral and Maxillofacial Surgery II, Osaka University Graduate School of Dentistry, Suita, Osaka, 565-0871, Japan

    Hitomi Kajikawa, Kazuhide Matsunaga & Narikazu Uzawa

  4. Department of Oral Pathology, Graduate School of Dentistry, Osaka University, 1-8 Yamadaoka, Suita, Osaka, 565-0871, Japan

    Katsutoshi Hirose & Satoru Toyosawa

  5. Department of Dermatology, Course of Integrated Medicine, Graduate School of Medicine, Osaka University, Osaka, 565-0871, Japan

    Yukinobu Nakagawa & Manabu Fujimoto

  6. Clinical Laboratory, Osaka University Dental Hospital, 1-8 Yamadaoka, Suita, Osaka, 565-0871, Japan

    Kaori Oya & Yasuo Fukuda

Authors
  1. Satoshi Nojima
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  2. Masaharu Kohara
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  3. Hiroshi Harada
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  4. Hitomi Kajikawa
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  5. Katsutoshi Hirose
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  6. Shin-Ichi Nakatsuka
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  7. Yukinobu Nakagawa
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  8. Kaori Oya
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  9. Yasuo Fukuda
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  10. Kazuhide Matsunaga
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  11. Narikazu Uzawa
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  12. Manabu Fujimoto
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  13. Satoru Toyosawa
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  14. Eiichi Morii
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Contributions

EM designed this study. SN, HH, KH, SIN, KO, YF, ST, and EM interpreted histological and immmunohistochemical findings. SN also interpreted genetic findings and wrote the manuscript. MK performed direct sequence analysis. HK, YN, KM, NU, and MF contributed to patient management. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Eiichi Morii.

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Conflict of interest

All authors declare that they have no conflict of interest.

Ethical Approval

The study in this case report was performed in accordance with the ethics committee requirement of Osaka University and with Declaration of Helsinki.

Informed Consent

Informed consent for publication of clinical details and images was obtained from the patient.

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Nojima, S., Kohara, M., Harada, H. et al. Clear Cell Carcinoma in the Oral Cavity with Three Novel Types of EWSR1-ATF1 Translocation: A Case Report. Head and Neck Pathol 16, 560–566 (2022). https://doi.org/10.1007/s12105-021-01356-y

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  • DOI: https://doi.org/10.1007/s12105-021-01356-y

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