July 19, 2019  |  

The somatic genomic landscape of chromophobe renal cell carcinoma.

Authors: Davis, Caleb F and Ricketts, Christopher J and Wang, Min and Yang, Lixing and Cherniack, Andrew D and Shen, Hui and Buhay, Christian and Kang, Hyojin and Kim, Sang Cheol and Fahey, Catherine C and Hacker, Kathryn E and Bhanot, Gyan and Gordenin, Dmitry A and Chu, Andy and Gunaratne, Preethi H and Biehl, Michael and Seth, Sahil and Kaipparettu, Benny A and Bristow, Christopher A and Donehower, Lawrence A and Wallen, Eric M and Smith, Angela B and Tickoo, Satish K and Tamboli, Pheroze and Reuter, Victor and Schmidt, Laura S and Hsieh, James J and Choueiri, Toni K and Hakimi, A Ari and Chin, Lynda and Meyerson, Matthew and Kucherlapati, Raju and Park, Woong-Yang and Robertson, A Gordon and Laird, Peter W and Henske, Elizabeth P and Kwiatkowski, David J and Park, Peter J and Morgan, Margaret and Shuch, Brian and Muzny, Donna and Wheeler, David A and Linehan, W Marston and Gibbs, Richard A and Rathmell, W Kimryn and Creighton, Chad J

We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell carcinomas (ChRCCs) on the basis of multidimensional and comprehensive characterization, including mtDNA and whole-genome sequencing. The result is consistent that ChRCC originates from the distal nephron compared with other kidney cancers with more proximal origins. Combined mtDNA and gene expression analysis implicates changes in mitochondrial function as a component of the disease biology, while suggesting alternative roles for mtDNA mutations in cancers relying on oxidative phosphorylation. Genomic rearrangements lead to recurrent structural breakpoints within TERT promoter region, which correlates with highly elevated TERT expression and manifestation of kataegis, representing a mechanism of TERT upregulation in cancer distinct from previously observed amplifications and point mutations. Copyright © 2014 Elsevier Inc. All rights reserved.

Journal: Cancer cell
DOI: 10.1016/j.ccr.2014.07.014
Year: 2014

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