Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: Radiological findings mimicking papillary subtype

Abstract

The authors describe the computed tomography (CT) and magnetic resonance imaging (MRI) findings of an 18-yearold man with renal cell carcinoma (RCC) associated with the Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion (Xp11 translocation carcinoma). The lesion was hyperdense on unenhanced CT, hypovascular on contrast-enhanced studies, hypointense on T2-weighted MR images, and hemosiderin deposition was suspected on phase-shift gradient-echo MR images. Histopathological specimens revealed pathological findings resembling papillary RCC predominantly and exhibited immunoreactivity for TFE3. Because there is often considerable morphological overlap between this carcinoma and papillary RCC, the imaging findings of Xp11 translocation carcinoma may be similar to those of the papillary subtype. Therefore, Xp11 translocation carcinoma should be considered, particularly in young patients when radiologic images demonstrate a renal tumor mimicking the papillary subtype. RENAL CELL CARCINOMA (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11 translocation carcinoma) was identified %20 years ago and listed as a separate entity in the 2004 World Health Organization (WHO) classification of kidney tumors (1). This RCC subtype is defined by different translocations involving chromosome Xp11.2, which all result in gene fusions involving the TFE3 gene. This carcinoma predominantly affects children and young adults in the second and third decades of life and shows no gender predominance, although some cases have been described in older patients (2-5). Approximately one-third of pediatric RCCs are estimated to be Xp11 translocation carcinomas, whereas the clear cell subtype accounts for 15% of RCCs in children. Compared with pediatric cases, clinical stages in adult cases tend to be more advanced and clinically they usually pursue unfavorable courses (3,5). Liver, lung, and periaortic lymph nodes are common sites of metastasis (3). Although Xp11 translocation carcinomas have been reported from the perspectives of their pathologic and urologic features, we are unaware of any previous reports focusing on their radiological imaging findings. Hence, we describe the computed tomography (CT) and magnetic resonance imaging (MRI) findings of an Xp11 translocation carcinoma in a young adult patient and their relations with pathologic findings. CASE REPORTAn 18-year-old man presented with sudden onset of gross hematuria and abdominal pain in the right flank. On subsequently performed CT images, a mass was found in the anteroinferior segment of the right kidney.CT images were obtained using a 16-slice CT scanner (LightSpeed Ultra 16, GE Healthcare, Milwaukee, WI), and MRI was performed using a 3T MRI system (Achieva Quasar Dual 3T; Philips Medical Systems, Best, the Netherlands). On contrast-enhanced CT and MRI, multiphasic scans were initiated 35 and 180 seconds after initiating contrast injection for the corticomedullary and excretory phases, respectively.On unenhanced CT the mass was a 38 Â 32 Â 41 mm, a well-de...

Imaging Findings of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in a 4-Year-Old Male: Case Report and Review of Literature

“…On contrast enhanced study of CT, however, it showed heterogeneous enhancement. No particular enhancement pattern of Xp11.2 RCC is reported yet, however, thick peripheral rim enhancement was noted in the previous report, which was similar to our case (9). There was mild and delayed enhancement in the periphery of the lesion in our case and this is believed to be caused by partial capsule formation .…”

“…Our study showed a low ADC value in the tumor, especially in the peripheral portion (1.043 × 10 -3 mm 2 /sec). However, DWI of Xp11.2 RCC in a previous report was isointense compared with renal parenchyma (9). Further study is needed to refine this aspect.…”

Magnetic Resonance Imaging and Computed Tomography Characteristics of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion

“…On plain CT, most of these tumors showed iso-attenuation or slight hyper-attenuation compared to the normal renal cortex. Such hyper-attenuation is thought to be due to hemorrhagic or proteinaceous fluid, densely packed cellular components, or a combination of these factors [13], [16]. MRI provided important information on the tumor parenchyma.…”

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

“…Citations of articles used in the table: Argani et al 2007 Rais-Bahrami et al 2007 LaGrange et al 2007 Franzini et al 2007 Hora et al 2008 Camparo et al 2008 Hora et al 2009 Suarez-Vilela et al 2011, Koie et al 2009 Armah et al 2009 Kuroda et al 2010 Choueiri et al 2010 Ishihara et al 2011 Liu et al 2011 Nelius et al 2011 Numakura et al 2011, Kato et al 2011 Klatte et al 2012 Morii et al 2012 Rao et al 2012 Inamura et al 2012 Arnoux et al 2012 Komai et al 2009 Gaillot-Durand et al 2013.…”

“…In some previous studies data on the radiological features (CT and MRI) of Xp11 TRCC have been presented. These have failed to identify any specific radiological features of this tumour Liu et al 2013;Koo et al 2013; Kato et al 2011). …”