title: Renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion: imaging findings in 21 patients.
abstract: OBJECTIVE
  To characterize imaging features of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE gene fusion.
  
  
  METHODS
  Twenty-one patients with Xp11.2/TFE RCC were retrospectively evaluated. Tumour location, size, density, cystic or solid appearance, calcification, capsule sign, enhancement pattern and metastases were assessed.
  
  
  RESULTS
  Fourteen women and seven men were identified with 12 being 25 years old or younger. Tumours were solitary and cystic-solid (76.2 %) masses with a capsule (76.2 %); 90.5 % were located in the medulla. Calcifications and lymph node metastases were each observed in 24 %. On unenhanced CT, tumour attenuation was greater than in normal renal parenchyma (85.7 %). Tumour enhancement was less than in normal renal cortex on all enhanced phases, greater than in normal renal medulla on cortical and medullary phases, but less than in normal renal medulla on delayed phase. On MR, the tumours were isointense on T1WI, heterogeneously hypointense on T2WI and slightly hyperintense on diffusion-weighted imaging.
  
  
  CONCLUSIONS
  Xp11.2/TFE RCC usually occurs in young women. It is a cystic-solid, hyperdense mass with a capsule. It arises from the renal medulla with enhancement less than in the cortex but greater than in the medulla in all phases except the delayed phase, when it is lower than in the medulla.
  
  
  CONCLUSIONS
  • Xp11.2/TFE RCC was more prevalent in young women. • On unenhanced CT, Xp11.2/TFE RCC attenuation was greater than in renal parenchyma. • Xp111/2TFE RCC arises primarily from the renal medulla. • Xp11.2/TFE RCC enhancement was less than in the cortex on all phases. • Enhancement was greater than in the medulla in arterial and corticomedullary phase.
authors.affiliation: Department of Radiology, Affiliated Hospital of Nanjing University of Chinese Medicine, 155 Hanzhong Road, Nanjing, 210029, China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Medical Imaging, Subei People's Hospital, Medical School of Yangzhou University, No. 98 West Nantong Road, Yangzhou, 225001, China.
authors.forename: Qingqiang
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: Department of Radiology, Gulou Hospital, Nanjing, 210008, China.
authors.forename: Baoxin
authors.initials: B
authors.lastname: Li
authors.affiliation: Department of Radiology, Affiliated Hospital of Nanjing University of Chinese Medicine, 155 Hanzhong Road, Nanjing, 210029, China.|Department of Radiology, Jinling Hospital, Nanjing University Medical School, 305 east zhongshan Road, Nanjing, 210002, China.
authors.forename: Wenjing
authors.initials: W
authors.lastname: Cui
authors.affiliation: Department of Radiology, Affiliated Hospital of Nanjing University of Chinese Medicine, 155 Hanzhong Road, Nanjing, 210029, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Department of Radiology, Affiliated Hospital of Nanjing University of Chinese Medicine, 155 Hanzhong Road, Nanjing, 210029, China.
authors.forename: Na
authors.initials: N
authors.lastname: Duan
authors.affiliation: Department of Radiology, Affiliated Hospital of Nanjing University of Chinese Medicine, 155 Hanzhong Road, Nanjing, 210029, China.
authors.forename: Yongkang
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Radiology, The University of Texas, M.D. Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX, USA.
authors.forename: Vikas
authors.initials: V
authors.lastname: Kundra
authors.affiliation: Department of Radiology, Affiliated Hospital of Nanjing University of Chinese Medicine, 155 Hanzhong Road, Nanjing, 210029, China. zhq2001us@163.com.
authors.forename: Zhongqiu
authors.initials: Z
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000000981:diagnostic imaging*; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D050939:Gene Fusion / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging; D007680:Kidney Neoplasms / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human
keywords: Magnetic resonance imaging; Multidetector computed tomography; Renal cell carcinoma; TFE gene fusion; Xp11.2 translocation