机构：[1]Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Chengdu, China四川大学华西医院[2]Department of Pathology, West China Hospital,Sichuan University, Chengdu, China四川大学华西医院[3]Department of Radiology, West China Hospital, Sichuan University, Chengdu, China四川大学华西医院[4]GloriousMed Clinical Laboratory(Shanghai) Co., Ltd, Shanghai, China[5]Department of Urology and Comprehensive Cancer Center, University of California Davis, Sacramento, CA, USA[6]Department of Oncology, West China Hospital, Sichuan University, Chengdu, China四川大学华西医院[7]Department of Biotherapy, West China Hospital, Sichuan University,Chengdu, China四川大学华西医院[8]Department of Nuclear medicine, West China Hospital, Sichuan University, Chengdu, China四川大学华西医院[9]Department of Urology, The First AffiliatedHospital, School of Medicine, Zhejiang University, Hangzhou, China[10]Departments of Biochemistry and Molecular Biology and Urology, Mayo Clinic Collegeof Medicine and Science, Rochester, MN, USA.
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. TFE3-translocation renal cell carcinoma (TFE3-tRCC) is a rare subtype of kidney cancer with no standard treatment options for the advanced disease. Here, the authors perform genomic and transcriptomic profiling of 63 untreated primary TFE3-tRCC tumours and reveal potential therapeutic targets.
基金：
Natural Science Foundation of China (NSFC)National Natural Science Foundation of China (NSFC) [81972502, 81902577, 81974398, 81872107, 81872108]; China Postdoctoral Science FoundationChina Postdoctoral Science Foundation [2020M673239]; Research Foundation for the Postdoctoral Program of Sichuan University [2021SCU12014]; Post-Doctor Research Project; West China Hospital; Sichuan UniversitySichuan University [20HXBH026, 0040205301E21]; Science and Technology Support Program of Sichuan Province [2021YFS0119]
第一作者机构：[1]Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Chengdu, China
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通讯作者：
推荐引用方式(GB/T 7714)：
Sun Guangxi,Chen Junru,Liang Jiayu,et al.Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma[J].NATURE COMMUNICATIONS.2021,12(1):doi:10.1038/s41467-021-25618-z.
APA：
Sun, Guangxi,Chen, Junru,Liang, Jiayu,Yin, Xiaoxue,Zhang, Mengni...&Zeng, Hao.(2021).Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.NATURE COMMUNICATIONS,12,(1)
MLA：
Sun, Guangxi,et al."Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma".NATURE COMMUNICATIONS 12..1(2021)
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