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 transcriptasepolymerase chain reactions. No adjuvant therapy is given, and the patient is alive without evidence of disease for 1 year and 6 months.
authors.affiliation: Department of Anatomic Pathology, Chang Gung Memorial Hospital and Chang Gung University, Kuei-Shan 333, Tao-Yuan, Taiwan.
authors.forename: Chi-Kuan
authors.initials: CK
authors.lastname: Chen
authors.forename: Chuen
authors.initials: C
authors.lastname: Hsueh
authors.forename: Jin-Yao
authors.initials: JY
authors.lastname: Lai
authors.forename: Iou-Jih
authors.initials: IJ
authors.lastname: Hung
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Whang-Peng
authors.forename: Wan-Ping
authors.initials: WP
authors.lastname: Wang
authors.forename: Hsin-Yi
authors.initials: HY
authors.lastname: Lai
authors.forename: Jim-Ray
authors.initials: JR
authors.lastname: Chen
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002648:Child; D002886:Chromosomes, Human, Pair 17; D041321:Chromosomes, Human, X; D050939:Gene Fusion; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D047908:Intracellular Signaling Peptides and Proteins; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C069203:TFE3 protein, human