Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma

Guangxi Sun, Junru Chen, Jiayu Liang, Xiaoxue Yin, Mengni Zhang, Jin Yao, Ning He, Cameron M. Armstrong, Linmao Zheng, Xingming Zhang, Sha Zhu, Xiaomeng Sun, Xiaoxia Yang, Wanbin Zhao, Banghua Liao, Xiuyi Pan, Ling Nie, Ling Yang, Yuntian Chen, Jinge ZhaoHaoran Zhang, Jindong Dai, Yali Shen, Jiyan Liu, Rui Huang, Jiandong Liu, Zhipeng Wang, Yuchao Ni, Qiang Wei, Xiang Li, Qiao Zhou, Haojie Huang, Zhenhua Liu, Pengfei Shen, Ni Chen, Hao Zeng

Research output: Contribution to journalArticlepeer-review


TFE3-translocation renal cell carcinoma (TFE3-tRCC) is a rare and heterogeneous subtype of kidney cancer with no standard treatment for advanced disease. We describe comprehensive molecular characteristics of 63 untreated primary TFE3-tRCCs based on whole-exome and RNA sequencing. TFE3-tRCC is highly heterogeneous, both clinicopathologically and genotypically. ASPSCR1-TFE3 fusion and several somatic copy number alterations, including the loss of 22q, are associated with aggressive features and poor outcomes. Apart from tumors with MED15-TFE3 fusion, most TFE3-tRCCs exhibit low PD-L1 expression and low T-cell infiltration. Unsupervised transcriptomic analysis reveals five molecular clusters with distinct angiogenesis, stroma, proliferation and KRAS down signatures, which show association with fusion patterns and prognosis. In line with the aggressive nature, the high angiogenesis/stroma/proliferation cluster exclusively consists of tumors with ASPSCR1-TFE3 fusion. Here, we describe the genomic and transcriptomic features of TFE3-tRCC and provide insights into precision medicine for this disease.

Original languageEnglish (US)
Article number5262
JournalNature communications
Issue number1
StatePublished - Dec 1 2021

ASJC Scopus subject areas

  • Physics and Astronomy(all)
  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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