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Renal cell carcinoma with t(X;17)(p11.2;q25) in a 6-year-old Taiwanese boy

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Abstract

Pediatric renal cell carcinoma (RCC) associated with ASPL–TFE3 gene fusion resulting from balanced translocation, t(X;17)(p11.2;q25), is a distinctive tumor entity. It is uncommon, and most reported cases have exclusively come from Western societies. We report a case of t(X;17)(p11.2;q25) RCC in a 6-year-old Taiwanese boy. The patient presented with dysuria and intermittent hematuria for 1 year. Nonenhanced CT showed a well-defined homogeneous hyperdensity lesion in the upper pole of the left kidney. This patient refused to receive immediate surgical procedures but had routine follow-ups. After a 9-month follow-up, the patient underwent total nephrectomy with a favorable outcome. Final diagnosis is established based on the characteristic microscopic features, strong nuclear TFE-3 immunoreactivity, and the presence of type 1 TFE3–ASPL fusion gene detected by reverse transcriptase–polymerase chain reactions. No adjuvant therapy is given, and the patient is alive without evidence of disease for 1 year and 6 months.

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Acknowledgment

This work is supported by grant CMRPG-32071 to Chun Hseuh and partially supported by NSC 94-3114-P-043-003-Y to Jacqueline Whang-Peng.

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Authors and Affiliations

  1. Department of Anatomic Pathology, Chang Gung Memorial Hospital and Chang Gung University, Kuei-Shan 333, Tao-Yuan, Taiwan

    Chi-Kuan Chen & Chuen Hsueh

  2. Department of Pediatric Surgery, Chang Gung Children’s Hospital and Chang Gung University, Kuei-Shan 333, Tao-Yuan, Taiwan

    Jin-Yao Lai

  3. Department of Hematology/Oncology, Chang Gung Children’s Hospital and Chang Gung University, Kuei-Shan 333, Tao-Yuan, Taiwan

    Iou-Jih Hung

  4. National Institute of Cancer Research, National Health Research Institutes, 9F, No. 161, Sec. 6, Min-Chun East Road, Taipei, 114, Taiwan

    Jacqueline Whang-Peng, Wan-Ping Wang & Jim-Ray Chen

  5. Department of Radiology, China Medical University Hospital, Taichung, Taiwan

    Hsin-Yi Lai

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  1. Chi-Kuan Chen
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  2. Chuen Hsueh
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  3. Jin-Yao Lai
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  4. Iou-Jih Hung
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  5. Jacqueline Whang-Peng
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  6. Wan-Ping Wang
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  7. Hsin-Yi Lai
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  8. Jim-Ray Chen
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Correspondence to Chuen Hsueh or Jim-Ray Chen.

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Chen, CK., Hsueh, C., Lai, JY. et al. Renal cell carcinoma with t(X;17)(p11.2;q25) in a 6-year-old Taiwanese boy. Virchows Arch 450, 215–219 (2007). https://doi.org/10.1007/s00428-006-0337-8

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  • DOI: https://doi.org/10.1007/s00428-006-0337-8

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