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

Hyun Gi Kim; Mi-Jung Lee; Sarah Lee; Myung-Joon Kim; Chang Hee Hong

doi:10.13104/jksmrm.2013.17.1.41

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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

Other Titles: 4세 남아에서 발견된 Xp11.2 염색체 재배열/TFE3 유전자 융합 연관 신세포 암의 영상 소견: 증례보고 및 문헌고찰

Authors: Hyun Gi Kim ; Mi-Jung Lee ; Sarah Lee ; Myung-Joon Kim ; Chang Hee Hong

Citation: Journal of the Korean Society of Magnetic Resonance in Medicine (대한자기공명의과학회지), Vol.17(1) : 41-46, 2013

Journal Title: Journal of the Korean Society of Magnetic Resonance in Medicine(대한자기공명의과학회지)

ISSN: 1226-9751

Issue Date: 2013

Keywords: Carcinoma, Renal CellMark ; ChildMark ; DiffusionMark ; Gene FusionMark ; HumansMark ; KidneyMark ; Magnetic Resonance ImagingMark ; MaleMark ; Young Adult

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.