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Imaging Findings of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in a 4-Year-Old Male: Case Report and Review of Literature  

Kim, Hyun Gi (Department of Radiology and Research Institute of Radiological Science, Severance Children's Hospital, Yonsei University, College of Medicine)
Lee, Mi-Jung (Department of Radiology and Research Institute of Radiological Science, Severance Children's Hospital, Yonsei University, College of Medicine)
Lee, Sarah (Department of Pathology, Severance Hospital, Yonsei University, College of Medicine)
Kim, Myung-Joon (Department of Radiology and Research Institute of Radiological Science, Severance Children's Hospital, Yonsei University, College of Medicine)
Hong, Chang Hee (Department of Pediatric Urology, Severance Children's Hospital, Yonsei University, College of Medicine)
Publication Information
Investigative Magnetic Resonance Imaging / v.17, no.1, 2013 , pp. 41-46 More about this Journal
Abstract
We represent a pathologically proven case of a four-year-old male patient with renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion, which is rare but more frequent in children or young adults. Computed tomography showed about 2.5 cm size ill-defined mass in the right kidney. The mass was hyperechoic on ultrasound. Magnetic resonance imaging demonstrated a mass with capsular enhancement and diffusion restriction. We present a case of Xp11.2 renal cell carcinoma and provide review of the literature.
Keywords
Renal cell carcinoma; Xp11.2 translocation; TFE3 gene fusion; Diffusion-weighted MRI; Child;
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