Dynamic Contrast-Enhanced CT Characterization of Xp11.2 Translocation/TFE3 Gene Fusions versus Papillary Renal Cell Carcinomas

Biomed Res Int. 2015:2015:298679. doi: 10.1155/2015/298679. Epub 2015 Nov 9.

Abstract

Purpose: To compare the differences of CT characteristics between renal cell carcinomas (RCCs) associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 RCCs) and papillary cell renal cell carcinomas (PRCCs).

Methods: CT images and clinical records of 64 patients (25 Xp11.2 RCCs, 15 type 1 and 24 type 2 PRCCs) were analyzed and compared retrospectively.

Results: Xp11.2 RCC more frequently affected young (30.7 ± 8.7 years) women (16/25, 64%) with gross hematuria (12/25, 48%), while PRCC more frequently involved middle-aged (54.8 ± 11.1 years) men (28/39, 71.8%) asymptomatically. Xp11.2 RCC tended to be heterogeneous density with some showing circular calcification. Lesion sizes of Xp11.2 RCC (5.4 ± 2.2 cm) and type 2 PRCC (5.7 ± 2.5 cm) were significantly larger than that of type 1 PRCC (3.8 ± 1.8 cm). Xp11.2 RCC contained more cystic components (22/25, 88%) than type 1 PRCC (all solid) and type 2 PRCC (9/24, 36.0%). Type 1 PRCC (13/15, 86.7%) and Xp11.2 RCC (21/25, 84.0%) showed more clear boundary than type 2 PRCC (12/24, 50.0%).

Conclusion: CT features including diameter, boundary, attenuation, nature, and circular calcification of the tumor, combined with demographic information and symptoms, may be useful to differentiate Xp11.2 RCC from different subtypes of PRCC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Carcinoma, Renal Cell / diagnostic imaging*
  • Carcinoma, Renal Cell / genetics*
  • Chromosomes, Human, X / genetics
  • Contrast Media
  • Diagnosis, Differential
  • Female
  • Genetic Enhancement
  • Humans
  • Iohexol
  • Kidney Neoplasms / diagnostic imaging*
  • Kidney Neoplasms / genetics*
  • Male
  • Middle Aged
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Tomography, X-Ray Computed / methods*
  • Translocation, Genetic / genetics
  • Young Adult

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Contrast Media
  • TFE3 protein, human
  • Iohexol