Proteogenomic characterization of MiT family translocation renal cell carcinoma

Yuanyuan Qu, Xiaohui Wu, Aihetaimujiang Anwaier, Jinwen Feng, Wenhao Xu, Xiaoru Pei, Yu Zhu, Yang Liu, Lin Bai, Guojian Yang, Xi Tian, Jiaqi Su, Guo-Hai Shi, Da-Long Cao, Fujiang Xu, Yue Wang, Hua-Lei Gan, Shujuan Ni, Meng-Hong Sun, Jian-Yuan Zhao (), Hailiang Zhang (), Dingwei Ye () and Chen Ding ()
Additional contact information
Yuanyuan Qu: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Xiaohui Wu: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Aihetaimujiang Anwaier: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Jinwen Feng: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Wenhao Xu: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Xiaoru Pei: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Yu Zhu: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Yang Liu: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Lin Bai: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Guojian Yang: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Xi Tian: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Jiaqi Su: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Guo-Hai Shi: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Da-Long Cao: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Fujiang Xu: The Affiliated Hospital of Southwest Medical University
Yue Wang: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Hua-Lei Gan: Shanghai Medical College, Shanghai Genitourinary Cancer Institute
Shujuan Ni: Shanghai Medical College, Shanghai Genitourinary Cancer Institute
Meng-Hong Sun: Shanghai Medical College, Shanghai Genitourinary Cancer Institute
Jian-Yuan Zhao: Shanghai Jiao Tong University School of Medicine
Hailiang Zhang: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Dingwei Ye: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University
Chen Ding: Institute of Biomedical Sciences, and Human Phenome Institute, Fudan University

Nature Communications, 2022, vol. 13, issue 1, 1-18

Abstract: Abstract Microphthalmia transcription factor (MiT) family translocation renal cell carcinoma (tRCC) is a rare type of kidney cancer, which is not well characterized. Here we show the comprehensive proteogenomic analysis of tRCC tumors and normal adjacent tissues to elucidate the molecular landscape of this disease. Our study reveals that defective DNA repair plays an important role in tRCC carcinogenesis and progression. Metabolic processes are markedly dysregulated at both the mRNA and protein levels. Proteomic and phosphoproteome data identify mTOR signaling pathway as a potential therapeutic target. Moreover, molecular subtyping and immune infiltration analysis characterize the inter-tumoral heterogeneity of tRCC. Multi-omic integration reveals the dysregulation of cellular processes affected by genomic alterations, including oxidative phosphorylation, autophagy, transcription factor activity, and proteasome function. This study represents a comprehensive proteogenomic analysis of tRCC, providing valuable insights into its biological mechanisms, disease diagnosis, and prognostication.

Date: 2022
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DOI: 10.1038/s41467-022-34460-w

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