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

Chi Kuan Chen; Chuen Hsueh; Jin Yao Lai; Iou Jih Hung; Jacqueline Whang-Peng; Wan Ping Wang; Hsin Yi Lai; Jim Ray Chen

doi:10.1007/s00428-006-0337-8

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

Chi Kuan Chen, Chuen Hsueh^*, Jin Yao Lai, Iou Jih Hung, Jacqueline Whang-Peng, Wan Ping Wang, Hsin Yi Lai, Jim Ray Chen

^*Corresponding author for this work

School of Medicine

Research output: Contribution to journal › Journal Article › peer-review

5 Scopus citations

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.

Original language	English
Pages (from-to)	215-219
Number of pages	5
Journal	Virchows Archiv
Volume	450
Issue number	2
DOIs	https://doi.org/10.1007/s00428-006-0337-8
State	Published - 02 2007

Keywords

ASPL-TFE3 gene fusion
Renal cell carcinoma
t(X;17)(p11.2;q25)

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10.1007/s00428-006-0337-8

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

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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author = "Chen, {Chi Kuan} and Chuen Hsueh and Lai, {Jin Yao} and Hung, {Iou Jih} and Jacqueline Whang-Peng and Wang, {Wan Ping} and Lai, {Hsin Yi} and Chen, {Jim Ray}",

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AU - Chen, Chi Kuan

AU - Hsueh, Chuen

AU - Lai, Jin Yao

AU - Hung, Iou Jih

AU - Whang-Peng, Jacqueline

AU - Wang, Wan Ping

AU - Lai, Hsin Yi

AU - Chen, Jim Ray

PY - 2007/2

Y1 - 2007/2

N2 - 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.

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

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