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Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene: report of three cases with molecular analyses

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Abstract

Hyalinizing clear cell carcinoma (HCCC) is a low-grade salivary gland carcinoma characterized by clear cells and hyalinized stroma. Recently, the EWSR1-ATF1 fusion gene was found in HCCCs. We herein describe three cases of HCCC identified in one male and two females, ranging in age from 27 to 67 years. The tumors were located in the root of tongue, nasopharynx, and soft palate. They were composed of nested or cord-like proliferations of epithelial cells with clear to pale eosinophilic cytoplasm, embedded in hyalinized and focally fibroedematous stroma. Tumor-associated lymphoid proliferation and pseudoepitheliomatous hyperplasia were also observed in each one case. MAML2 fusions specific to mucoepidermoid carcinoma were not detected in any of the three cases. We found EWSR1-ATF1 in two of three HCCCs using reverse transcription polymerase chain reaction (RT-PCR) with our original primer sets designed to detect the fusion gene transcripts in formalin-fixed paraffin-embedded (FFPE) tissues. EWSR1 rearrangement was also confirmed by fluorescence in situ hybridization (FISH) on FFPE sections in two cases. There was a good concordance between the two methods (two positive cases and one negative case by both RT-PCR and FISH). Therefore, RT-PCR and FISH using FFPE tissue may be ancillary tools to confirm the diagnosis of HCCC.

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Acknowledgments

The authors are grateful to Ms. Tateishi, Ms. Matsumoto, and Ms. Nakamizo for their technical assistance. We also appreciate the technical support from the Research Support Center, Graduate School of Medical Sciences, Kyushu University. The English usage in this article was reviewed by KN International (http://www.kninter.com/).

Conflict of interest statement

We declare that we have no conflict of interest.

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Authors and Affiliations

  1. Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan

    Takafumi Nakano, Hidetaka Yamamoto, Toshimitsu Nishijima, Sadafumi Tamiya & Yoshinao Oda

  2. Department of Otolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

    Takafumi Nakano, Toshimitsu Nishijima, Hideki Shiratsuchi, Torahiko Nakashima & Shizuo Komune

  3. Department of Pathology, Kitakyushu Municipal Medical Center, Kitakyushu, Japan

    Sadafumi Tamiya

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  1. Takafumi Nakano
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  2. Hidetaka Yamamoto
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  3. Toshimitsu Nishijima
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  4. Sadafumi Tamiya
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  5. Hideki Shiratsuchi
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  6. Torahiko Nakashima
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  7. Shizuo Komune
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  8. Yoshinao Oda
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Correspondence to Hidetaka Yamamoto.

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Nakano, T., Yamamoto, H., Nishijima, T. et al. Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene: report of three cases with molecular analyses. Virchows Arch 466, 37–43 (2015). https://doi.org/10.1007/s00428-014-1676-5

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  • DOI: https://doi.org/10.1007/s00428-014-1676-5

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