Imaging features of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions
Yusufu Rouzi Aihemaiti Tuohuti ZHANG Tao ZHANG Xu CHEN Jie
Department of Radiology and Medical Imaging, People’s Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Uygur Autonomous Region, Urumqi 830001, China
Abstract:Objective To explore the imaging features of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions. Methods Clinical data of 15 renal cell carcinoma patients associated with XP11.2 translocation/TFE3 gene fusion confirmed by pathological examination in the People’s Hospital of Xinjiang Uygur Autonomous Region from March 2016 to November 2021 were collected. CT and MRI data of the tumor were analyzed and the imaging features were evaluated. Results All lesions involved the renal cortex and medulla, and two cases of hydronephrosis were caused by involvement of the renal pelvis; six cases were complicated with calcification, including four cases of annular or arc-shaped calcification and two cases of nodular or dotted calcification; necrosis and cystic change were observed in ten cases; pseudocapsule was seen in six cases, including incomplete capsule in two cases; lymph nodes metastasis were found in renal hilum and retroperitoneum in four cases. T1 weighted imaging showed equal or slightly low signal in four cases and high signal in one case; T2 weighted imaging signals of three cases were uneven, showing equal or slightly high signals; diffusion-weighted imaging presents uniform or non-uniform high signal; and the apparent diffusion coefficient diagram showed a significantly low signal. After enhanced scanning of the fifteen patients, six cases had significant enhancement in the cortical phase, sustained enhancement in the medulla phase and significant clearance in the delayed phase; nine cases had mild to moderate enhancement in the cortical and medulla phases, and slight clearance in the delayed phase. Conclusion Renal cell carcinoma associated with Xp11.2 translocation/ TFE3 gene fusions has certain CT and MRI characteristics, which is helpful to improve the diagnosis rate of this disease.