The Cancer Genome Atlas undertook a comprehensive genetic analysis of chromophobe renal cell carcinoma, the first of the rare tumor types to be analyzed. This analysis identified the putative region of origin as the distal nephron. Alterations in mitochondrial function, mtDNA mutations, and recurrent structural rearrangements within the TERT promoter region were also identified.
Keywords: RCC; TERT; cancer metabolism; chromophobe renal cell carcinoma; clear cell renal cell carcinoma.