title: Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: radiological findings mimicking papillary subtype.
abstract: The authors describe the computed tomography (CT) and magnetic resonance imaging (MRI) findings of an 18-year-old man with renal cell carcinoma (RCC) associated with the Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion (Xp11 translocation carcinoma). The lesion was hyperdense on unenhanced CT, hypovascular on contrast-enhanced studies, hypointense on T2-weighted MR images, and hemosiderin deposition was suspected on phase-shift gradient-echo MR images. Histopathological specimens revealed pathological findings resembling papillary RCC predominantly and exhibited immunoreactivity for TFE3. Because there is often considerable morphological overlap between this carcinoma and papillary RCC, the imaging findings of Xp11 translocation carcinoma may be similar to those of the papillary subtype. Therefore, Xp11 translocation carcinoma should be considered, particularly in young patients when radiologic images demonstrate a renal tumor mimicking the papillary subtype.
authors.affiliation: Department of Radiology, Gifu University School of Medicine, Gifu, Japan. hkato@gifu-u.ac.jp
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kato
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kanematsu
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Yokoi
authors.forename: Kousei
authors.initials: K
authors.lastname: Miwa
authors.forename: Kengo
authors.initials: K
authors.lastname: Horie
authors.forename: Takashi
authors.initials: T
authors.lastname: Deguchi
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Hirose
mesh_terms: D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002291:Carcinoma, Papillary / Q000175:diagnosis / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D050939:Gene Fusion / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D014057:Tomography, X-Ray Computed / Q000379:methods*; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human