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A novel partner of TFE3 in the Xp11 translocation renal cell carcinoma: clinicopathological analyses and detection of EWSR1-TFE3 fusion

  • Hironori Fukuda
  • Ikuma Kato
  • Mitsuko FuruyaEmail author
  • Reiko Tanaka
  • Toshio Takagi
  • Tsunenori Kondo
  • Yoji Nagashima
Brief Report
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Abstract

The renal cell carcinomas associated with Xp11 translocations (Xp11 translocation RCCs) harbor gene fusions involving TFE3, a member of the microphthalmia-associated transcription factor (MiTF) family. In the present study, we identified a novel partner of TFE3, Ewing sarcoma breakpoint region 1 (EWSR1), in an Xp11 translocation RCC. A 57-year-old Japanese woman without special disease history was referred to us for treatment of an RCC. The resected tumor displayed an alveolar growth pattern with high-grade nuclei. The tumor was diffusely positive for TFE3 and cathepsin K. Anchored multiplex PCR revealed a novel fusion, EWSR1-TFE3. Fluorescent in situ hybridization analysis demonstrated the rearrangements of EWSR1 and TFE3. RT-PCR analysis confirmed the chimeric transcript. No neoplasm with EWSR1-TFE3 has been reported so far, in any organ. The results will expand the genomic spectrums of Xp11 translocation RCCs and contribute to better understanding of the roles of the MiTF family in the oncogenic process.

Keywords

Chimeric transcript EWSR1 Microphthalmia-associated transcription factor (MiTF) TFE3 Xp11 translocation renal cell carcinoma 

Notes

Acknowledgments

We thank Ms. Hiromi Soeda, Mr. Takayuki Akagi, and the members of the pathology laboratory of Tokyo Women’s Medical University Hospital for their excellent assistance.

Authors’ contributions

HF, IK, MF, RT, and YN analyzed and interpreted the data. TT and TK contributed to clinical management. IK, MF, and YN contributed to writing the manuscript. All authors read and approved the final manuscript.

Funding source

This work was supported by JSPS KAKENHI grant numbers, 16K19085 (I.K.), 17K08745 (M.F.), and 17K11162 (Y.N.), and Yokohama Academic Foundation grant number 676 (M.F.).

Compliance with ethical standards

Ethical approval

This study was approved by the institutional review boards of Tokyo Women’s Medical University (No.330) and Yokohama City University (A170928009).

Informed consent

Written informed consent for the study was obtained from the patient.

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Hironori Fukuda
    • 1
  • Ikuma Kato
    • 2
  • Mitsuko Furuya
    • 2
    Email author
  • Reiko Tanaka
    • 3
  • Toshio Takagi
    • 1
  • Tsunenori Kondo
    • 1
    • 4
  • Yoji Nagashima
    • 5
  1. 1.Department of UrologyTokyo Women’s Medical UniversityTokyoJapan
  2. 2.Department of Molecular Pathology, Graduate School of MedicineYokohama City UniversityYokohamaJapan
  3. 3.Medical Mycology Research CenterChiba UniversityChibaJapan
  4. 4.Department of UrologyTokyo Women’s Medical University East Medical CenterTokyoJapan
  5. 5.Department of Surgical PathologyTokyo Women’s Medical UniversityTokyoJapan

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