MDCT findings of renal cell carcinoma associated with Xp11.2 translocation and TFE3 gene fusion and papillary renal cell carcinoma

AJR Am J Roentgenol. 2015 Mar;204(3):542-9. doi: 10.2214/AJR.14.12950.

Abstract

OBJECTIVE. The purpose of this study was to compare the MDCT features of renal cell carcinoma (RCC) associated with Xp11.2 translocation and TFE3 gene fusion (Xp11 RCC) and papillary RCC. MATERIALS AND METHODS. The study included 19 and 39 patients with histologically proven Xp11 RCC and papillary RCC, respectively, who underwent multiphase renal MDCT before nephrectomy. CT findings were compared between Xp11 RCC and papillary RCC using the Student t test and chi-square test. Subgroup analyses of small (< 4 cm) renal masses for these features were performed. RESULTS. Patients with Xp11 RCC were younger (p < 0.001), and it was more prevalent in women (p = 0.007). Tumor size was greater in Xp11 RCC (p = 0.004) and more common in cystic change (p < 0.001). Calcification and unenhanced high-attenuating areas were more frequent in Xp11 RCC (p = 0.001 and 0.026, respectively). Xp11 RCCs were more prevalent in lymph node and distant metastasis (p < 0.001 and p = 0.031, respectively). Xp11 RCC and papillary RCC showed no significant difference in epicenter, margin, and venous and collecting duct invasion (p = 0.403-1.000). Although Xp11 RCC and papillary RCC had lower attenuation than the renal cortex on corticomedullary and early excretory phases (p < 0.001), only Xp11 RCCs were hyperattenuating to the cortex on the unenhanced phase (p < 0.001). Xp11 RCCs had significantly higher attenuation compared with papillary RCCs on all phases (p ≤ 0.02). Regarding small masses, cystic change, calcification, and lymph node metastasis were still more frequent in Xp11 RCCs (p ≤ 0.016). CONCLUSION. Greater size, more cystic change, calcification, high-attenuating areas on unenhanced imaging, and lymph node and distant metastasis were helpful for differentiating Xp11 RCC from papillary RCC.

Keywords: RCC associated with Xp11.2 translocation and TFE3 gene fusion; multiphase renal MDCT; papillary renal cell carcinoma (RCC).

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Carcinoma, Renal Cell / diagnostic imaging*
  • Carcinoma, Renal Cell / genetics*
  • Child
  • Female
  • Gene Fusion*
  • Humans
  • Kidney Neoplasms / diagnostic imaging*
  • Kidney Neoplasms / genetics*
  • Male
  • Middle Aged
  • Multidetector Computed Tomography*
  • Retrospective Studies
  • Translocation, Genetic*
  • Young Adult

Substances

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