Xp11.2易位/TFE3基因融合相关性肾细胞癌的超声表现

Ultrasonographic Findings of Xp11.2/TFE3 Translocation Renal Cell Carcinoma

目的探讨Xp11.2易位/TFE3基因融合相关性肾细胞癌(Xp11.2/TFE3-tRCC)的超声表现。资料与方法回顾性分析四川大学华西医院2009年4月—2022年2月手术经病理证实Xp11.2/TFE3-tRCC的10例患者,收集其超声图像及临床资料。观察肿块的边界、形态、内部回声、血流信号情况及超声造影表现等。结果共纳入10例肿块,其中4例行超声造影。Xp11.2/TFE3-tRCC的超声表现呈多样性及多变性,肿块好发于髓质(5例)。常规超声上6例表现为类似良性病灶的边界较清楚、形态较规则的实性结节,彩色多普勒显示5例为点状血流信号。超声造影上则更倾向于恶性肿块(3例),具体表现为不均匀强化,多伴有周边不均匀增强环。结论Xp11.2/TFE3-tRCC的常规超声表现多倾向良性,而超声造影则表现为恶性病灶,因此超声造影可作为诊断可疑Xp11.2/TFE3-tRCC的潜在方法。

Purpose To investigate the ultrasound imaging characteristics of Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma(Xp11.2/TFE3-tRCC).Materials and Methods A retrospective analysis was conducted of 10 patients with pathologically confirmed Xp11.2/TFE3-tRCC who underwent surgery in West China Hospital of Sichuan University from April 2009 to February 2022.The ultrasonic images were collected and further analyzed,including tumor border,shape,internal echoes,Doppler findings,and contrast-enhanced ultrasonography findings.Results A total of 10 masses were finally included,4 of which underwent contrast-enhanced ultrasound.The ultrasonographic manifestations of Xp11.2/TFE3-tRCC showed diversity and variability,and the mass was most commonly located in the medulla(5 cases).Conventional ultrasound showed solid nodules with clear boundaries and regular shape similar to benign lesions in 6 cases,and color Doppler showed punctated blood flow signals in 5 cases.Contrast-enhanced ultrasound was more inclined to malignant tumors(3 cases),which showed uneven enhancement,mostly accompanied by peripheral uneven enhancement rings.Conclusion Xp11.2/TFE3-tRCC tends to be benign on conventional ultrasound,while contrast-enhanced ultrasound shows malignant lesions.Therefore,contrast enhanced ultrasound can serve as a potential diagnostic tool for suspected Xp11.2/TFE3-tRCC.