摘要
t(6;11)(p21;q12)/TFEB基因融合相关性肾细胞癌作为一种罕见肿瘤,常见于儿童和年轻人。但由于形态学的重叠,免疫组织化学的诊断不足,在成人中的比例可能被低估,临床上也极易误诊。其特异性Alpha-TFEB融合基因导致了细胞核内TFEB的表达上调,最近研究发现这种表达上调也可以通过染色体扩增的方式实现,且TFEB扩增性肾细胞癌被认为是一种具有特征性组织学表现和侵袭行为的肾癌亚型。本文拟对TFEB基因融合相关性肾细胞癌的研究进展作一简要综述。
Renal cell carcinoma(RCC)Associated with t(6;11)(p21;q12)/TFEB gene fusion,as a rare tumor,happens more commonly in children and young adults.However,due to overlapping morphology and insufficient diagnosis of immunohistochemistry,it may be underestimated among adults,and be easily misdiagnosed in clinic.Its specific Alpha-TFEB fusion gene results in the expression upregulation of TFEB in the nucleus,which can also be realized by means of chromosome amplification according to recent studies.Furthermore,RCC with TFEB amplification is identified as a subtype of RCC with characteristic histology and aggressive behavior.This article aims to provide a brief review of the research progress of TFEB gene fusion-associated renal cell carcinoma.
作者
鲁邱阳
李荷
李志平
Lu Qiuyang;Li He;Li Zhiping(Department of Abdominal Oncology,West China Hospital of Sichuan University,Sichuan Chengdu 610041,China.)
出处
《现代肿瘤医学》
CAS
2019年第23期4319-4322,共4页
Journal of Modern Oncology
关键词
肾细胞癌
融合基因
扩增
治疗
renal cell carcinoma
gene fusion
amplification
therapy
