J Korean Soc Magn Reson Med.  2013 Mar;17(1):41-46. 10.13104/jksmrm.2013.17.1.41.

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

• Kim HG
• Lee MJ
• Lee S
• Kim MJ
• Hong CH

• KMID: 1426750
• DOI: http://doi.org/10.13104/jksmrm.2013.17.1.41

Abstract

We represent a pathologically proven case of a four-year-old male patient with renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion, which is rare but more frequent in children or young adults. Computed tomography showed about 2.5 cm size ill-defined mass in the right kidney. The mass was hyperechoic on ultrasound. Magnetic resonance imaging demonstrated a mass with capsular enhancement and diffusion restriction. We present a case of Xp11.2 renal cell carcinoma and provide review of the literature.

Keyword

Renal cell carcinoma; Xp11.2 translocation; TFE3 gene fusion; Diffusion-weighted MRI; Child

MeSH Terms

Carcinoma, Renal Cell
Child
Diffusion
Gene Fusion
Humans
Kidney
Magnetic Resonance Imaging
Male
Young Adult

Figure

• 

  Fig. 1 Coronal image of an enhanced computed tomography scan shows an ill-defined hypodense tumor of the right kidney involving the renal pelvis (a). Under Doppler imaging, hyperechoic mass invading the renal cortex and sinus shows hypovascularity compared with the surrounding normal parenchyma (b).

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  Fig. 2 On magnetic resonance images, the renal mass shows low to intermediate signal intensity on T1-weighted imaging (a) and intermediate to high signal intensity on T2-weighted imaging (b). On diffusion-weighted imaging, peripheral high signal intensity is shown (b = 1000 sec/mm2) (c). The same peripheral area was of low signal intensity on the apparent diffusion coefficient map (d).

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  Fig. 3 Dynamic enhancement study on T1-weighted images including precontrast (a), corticomedullary (b), nephrographic (c), and delayed phases (d). The mass shows lower signal intensity than the normal renal parenchyma on all phases; however, it shows heterogeneous enhancement.

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  Fig. 4 Gross specimen shows infiltrative mass containing necrotic lesion in the lower pole of the right kidney (a). Histopathological photomicrograph shows papillary pattern with voluminous clear cells and psammomatous calcification (arrow) (Hematoxylin & Eosin stain, original magnification, × 100) (b). Immunohistochemical staining shows strong nuclear expression of TFE3 (original magnification, ×200) (c).

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