MiT家族易位相关性肾细胞癌的研究进展

Research progress on MiT family translocation related renal cell carcinoma

小眼畸形转录因子(MiT)家族易位相关性肾细胞癌是肾细胞癌的一个重要病理类型,2016年作为独立的亚型被纳入新的WHO肾肿瘤分类。此类肾细胞癌主要包括Xp11.2易位/TFE3基因融合相关性肾细胞癌和t(6;11)(p21;q12)/TFEB基因融合相关性肾细胞癌,二者具有相似的临床特点、组织形态、免疫组化和分子遗传学特征,但显著不同于其他肾细胞癌。本文就MiT家族易位相关性肾细胞癌的临床病理学及遗传学等方面的研究进展作一综述,以期对临床及病理工作起到指导和帮助作用。

Microphthalmia-associated transcription(MiT)family translocation related renal cell carcinoma(RCC)is an important type of renal cell carcinoma,which was included in the new classification of renal tumors by the World Health Organization(WHO)as an independent subtype in 2016.This type of renal cell carcinoma mainly includes Xp11.2 translocation/TFE3 gene fusions associated with renal cell carcinoma and T(6;11)(p21;q12)/TFEB gene fusion-associated renal cell carcinoma,which has similar clinical features,histology,immunohistochemistry,and molecular genetics,but is significantly different from other renal cell carcinomas.In this review,the clinicopathology and genetics of MiT family translocation associated renal cell carcinoma were reviewed in order to provide guidance and help to the clinical and pathologic work.