Abstract
PurposeTo characterize Xp11.2 translocation renal cell carcinoma (RCC) using magnetic resonance imaging (MRI) and computed tomography (CT).MethodsThis study retrospectively collected the MRI and CT data of twelve patients with Xp11.2 translocation RCC confirmed by pathology. Nine cases underwent dynamic contrast-enhanced MRI (DCE-MRI) and 6 cases underwent CT, of which 3 cases underwent MRI and CT simultaneously. The MRI and CT findings were analyzed in regard to tumor position, size, hemorrhagic, cystic or necrotic components, calcification, tumor density, signal intensity and enhancement features.ResultsThe age of the 12 patients ranged from 13 to 46 years (mean age: 23 years). T2WI revealed heterogeneous intensity, hyper-intensity, and slight hypo-intensity in 6 cases, 2 cases, and 1 case, respectively. On DCE-MR images, mild, moderate, and marked rim enhancement of the tumor in the corticomedullary phase (CMP) were observed in 1, 6, and 2 cases, respectively. The tumor parenchyma showed iso-attenuation (n = 4) or slight hyper-attenuation (n = 1) compared to the normal renal cortex on non-contrast CT images. Imaging findings were suggestive of hemorrhage (n = 4) or necrosis (n = 8) in the tumors, and there was evidence of calcification in 8 cases by CT (n = 3) and pathology (n = 8). On dynamic contrast-enhanced CT images, 3 cases and 1 case manifested moderate and strong CMP enhancement, respectively. Nine tumors by MRI and 4 tumors by CT showed prolonged enhancement. Three neoplasms presented at stage I, 2 at stage II, 3 at stage III, and 4 at stage IV according the 2010 AJCC staging criteria.ConclusionsXP11.2 translocation RCC should be considered when a child or young adult patient presents with a renal tumor with heterogeneous features such as hemorrhage, necrosis, cystic changes, and calcification on CT and MRI and/or is accompanied by metastatic evidence.
Highlights
Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE 3 gene fusion (Xp11.2/TFE 3 RCC or Xp11.2 translocation RCC) is an uncommon subtype of RCC that is accepted as a distinct entity according to the 2004 World Health Organization renal tumor classification [1]
Some cases have been reported in older patients, Xp11.2/TFE RCC primarily affects children and young adults, and this condition is more common in women than men [1,2,3,4,5]
The presence of RCC in a child or young adult should increase the level of suspicion for Xp11.2 translocation RCC
Summary
Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE 3 gene fusion (Xp11.2/TFE 3 RCC or Xp11.2 translocation RCC) is an uncommon subtype of RCC that is accepted as a distinct entity according to the 2004 World Health Organization renal tumor classification [1]. These tumors are defined by several different translocations in chromosome Xp11.2, resulting in gene fusions in the TFE3 gene. The most distinctive immunohistochemical feature of this type of tumor is nuclear immunoreactivity for TFE3 protein [8,9]
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call