Imaging findings, clinical and pathological characters of 28 patients with Xp11.2/TFE3 translocation renal cell carcinoma

J Cancer Res Ther. 2023 Feb;19(1):132-140. doi: 10.4103/jcrt.jcrt_1505_22.

Abstract

Purpose: To analyze the imaging characteristics of Xp11.2/TFE3 translocation renal cell carcinoma and explore the relationship between the pathological features and imaging findings.

Materials and methods: Imaging, pathological, and clinical data of 28 patients with Xp11.2 RCC were studied from August 2013 to November 2019. The imaging characteristics and morbidity of different group were also explored meanwhile.

Results: Patients ranged from 3 to 83 years old and the median age was 47 years. Bilateral renal tumors were detected in 1 patient and unilateral in the rest 27 patients. Out of 29 tumors, 13 were in the left kidneys and 16 in the right. Tumor size ranged from 2.2 cm × 2.5 cm to 20.0 cm × 9.7 cm. Tumors were cystic component/necrosis (29/29,100%), renal capsule breakage (16/29, 55%), capsule (18/29, 62%), calcification (15/29, 52%), fat (4/29, 14%), and metastasis (10/29, 34%). Tumors showed moderate enhancement during renal corticomedullary phase and delayed enhancement during nephrographic and excretory phase. The solid parts showed hypointense on T2WI. The imaging characteristics did not have significant correlation with the age, the incidence of adolescent and children group was higher than adult group.

Conclusion: Xp11.2 RCC is a well-defined mass with cystic component, the solid part of tumor showed hypointense on T2WI. Xp11.2 RCC showed moderate enhancement during the renal corticomedullary phase and delayed enhancement during the nephrographic phase and excretory phase. Xp11.2 RCC has a higher incidence in children.

Keywords: CT; MRI; Xp11.2RCC; imaging findings; renal cell carcinoma.

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
  • Carcinoma, Renal Cell* / pathology
  • Child
  • Child, Preschool
  • Gene Fusion
  • Humans
  • Kidney Neoplasms* / diagnostic imaging
  • Kidney Neoplasms* / genetics
  • Kidney Neoplasms* / pathology
  • Middle Aged
  • Retrospective Studies
  • Translocation, Genetic
  • Young Adult

Substances

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