TFE3融合基因相关性肾细胞癌的诊治研究进展  

Advances in the diagnosis and treatment of TFE 3 fusion gene-associated renal cell carcinoma

作　　者：豆琼一 艾丽萍 白引苗 张红梅 DOU Qiongyi;AI Liping;BAI Yinmiao;ZHANG Hongmei(Department of Oncology,Xijing Hospital,Air Force Medical University,Xi'an 710032,China)

机构地区：[1]空军军医大学西京医院肿瘤科,陕西西安710032

出　　处：《空军军医大学学报》2023年第6期573-576,共4页Journal of Air Force Medical University

基　　金：陕西省自然科学基础研究计划重点项目(2021ZJ-35);空军军医大学西京医院学科助推计划项目(XJZT19ML21)。

摘　　要：转录因子E3(TFE3)是bHLH转录因子家族成员之一,TFE3融合基因相关性肾癌是由TFE3与其他基因融合所驱动的肾脏罕见恶性肿瘤,好发于儿童和青少年,成年患者稀发,但更易出现淋巴结及远隔器官转移。其诊断往往以免疫组织化学染色进行初筛,确诊为FISH检出TFE3断裂基因。手术为首选治疗,无法手术或术后复发患者,目前尚无标准系统治疗方案,靶向和免疫治疗尚处于临床研究阶段。本文就TFE3融合基因肾癌及其诊断、治疗和相关研究进展进行综述,以便今后对该型肾癌进一步研究提供帮助。Transcription factor E3(TFE 3)is a member of the bHLH transcription factor family.TFE 3 fusion gene-associated renal carcinoma is a rare renal malignant tumor driven by the fusion of TFE 3 and other genes.It tends to occur in children and adolescents,and is rare in adults,but more prone to lymph node and distant organ metastasis.The screening is usually made by immunohistochemical staining,and the diagnosis is confirmed by FISH detection of TFE 3 split gene.Surgery is the first choice of treatment for patients who are inoperable or have postoperative recurrence.At present,there is no standard systematic treatment plan,and targeted therapy and immunotherapy are still in the clinical research stage.This paper reviews TFE 3 fusion gene renal cell carcinoma and its diagnosis,treatment and related research progress,in order to provide help for further research on this type of renal cell carcinoma in the future.

关 键 词：TFE3 融合基因 Xp11.2 肾细胞癌 

分 类 号：R737.11[医药卫生—肿瘤]