Author/Authors :
Ling, Wenwu Department of Ultrasound - West China Hospital - Sichuan University - Chengdu, China , Ma, Xuelei West China Hospital - Sichuan University and Collaborative Innovation Center - Chengdu, China , Luo, Yan Department of Ultrasound - West China Hospital - Sichuan University - Chengdu, China , Chen, Linyan West China Hospital - Sichuan University and Collaborative Innovation Center - Chengdu, China , Wang, Huiyao Department of Psychiatry - West China Hospital - Sichuan University - Chengdu, China , Wang, Xiaoling Department of Operations Management - West China Hospital - Sichuan University - Chengdu, China , Chen, Ni Department of Pathology - West China Hospital - Sichuan University - Chengdu, China , Zeng, Hao Department of Urology - West China Hospital - Sichuan University - Chengdu, China , Li, Yongzhong Department of Ultrasound - West China Hospital - Sichuan University - Chengdu, China , Cai, Diming Department of Ultrasound - West China Hospital - Sichuan University - Chengdu, China
Abstract :
This study was to investigate the features of renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions
(Xp11.2-RCC) on conventional ultrasound (US) and contrast-enhanced ultrasound (CEUS). Methods. US and CEUS features of
twenty-two cases with histopathologically proven Xp11.2-RCC were retrospectively reviewed. Results. 22 patients (11 males, 11
females) were included in this study, with a mean age of 28.3 ± 20.4 years. Eight tumors (36.3%, 8/22) were in left kidney, and
14 tumors (63.7%, 14/22) were in right kidney. All tumors (100%, 22/22) were mixed echogenicity type. 13 tumors (59.1%, 13/22)
presented small dotted calcifications. The boundary of 14 tumors (63.6%, 14/22) was sharp and the other 8 tumors’ (36.4%, 8/22)
boundary was blurry. By CEUS, in early phase, the solid element of all tumors showed obvious enhancement. In delayed phase, 13
tumors showed hypoenhancement, seven tumors showed isoenhancement, and 2 tumors showed hyperenhancement. There were
irregular nonenhancement areas in all tumors inside. Conclusions. By US and CEUS, when children and adolescents were found to
have hyperechoic mixed tumor in kidney with sharp margin and calcification, and the tumors showed obvious enhancement and
hypoenhancement with irregular nonenhancement areas in the tumor in early phase and delayed phase, respectively, Xp11.2-RCC
should be suspected.
Keywords :
Translocation/TFE3 , Xp11.2 , Ultrasonographic , Xp11.2-RCC
