Xp11.2易位性肾细胞癌的诊断及治疗进展  

Advances in the diagnosis and treatment of Xp11.2 translocation renal cell carcinoma

作　　者：薛琦 罗志嵘 郭煦妍 谭啸(综述) 张波(审校) XUE Qi;LUO Zhirong;GUO Xuyan;TAN Xiao;ZHANG Bo(Graduate Student Affairs Office,Xi′an Medical University,Xi′an,Shaanxi 710021,China;Department of Urology,Tangdu Hospital,Air Force Military Medical University,Xi′an,Shaanxi 710032,China)

机构地区：[1]西安医学院研究生处,陕西西安710021 [2]空军军医大学唐都医院泌尿外科,陕西西安710032

出　　处：《检验医学与临床》2025年第6期855-859,共5页Laboratory Medicine and Clinic

基　　金：空军军医大学重大临床研究项目(2021LCYJ010,2021LC2110)。

摘　　要：转录因子E3(TFE3)基因融合性肾细胞癌,又称为Xp11.2易位性肾细胞癌(tRCC),是一种罕见的肾细胞癌,由TFE3和其他融合因子平衡易位产生,已有多种亚型。该病多发于儿童和青少年,更易出现淋巴结及远处转移。初步筛查主要通过免疫组织化学染色,确诊则依赖荧光原位杂交技术检测出TFE3断裂基因。由于其罕见性,Xp11.2 tRCC在治疗方面尚无共识,相关前瞻性研究仍在进行中。该文综述了Xp11.2 tRCC的诊断及治疗进展,以期为该类型肾细胞癌的进一步研究提供帮助。Transcription factor E3(TFE3)gene fusion renal cell carcinoma,also known as Xp11.2 translocation renal cell carcinoma(Xp11.2 tRCC),is a rare renal cell carcinoma arising from a balanced translocation of TFE3 and other fusion factors,of which there have been several subtypes.The disease is most common in children and adolescents and is more prone to lymph node and distant metastases.Initial screening is mainly by immunohistochemical staining,and definitive diagnosis relies on fluorescence in situ hybridization technology to detect the TFE3 breakage gene.Due to its rarity,there is no consensus on the treatment of Xp11.2 tRCC,and relevant prospective studies are still in progress.This article reviews the diagnostic and therapeutic progress of Xp11.2 tRCC,with the aim of contributing to further studies of this type of renal cancer.

关 键 词：转录因子E3 易位性肾细胞癌 基因融合 染色体易位 治疗 

分 类 号：R737.11[医药卫生—肿瘤]