The somatic genomic landscape of chromophobe renal cell carcinoma (The Cancer Genome Atlas)
Genomic analysis of 66 chromophobe kidney cancers showed they arise from a different cell of origin than clear cell tumours, carry characteristic whole-chromosome losses and TP53 and PTEN mutations, and have distinctive mitochondrial DNA changes and TERT promoter rearrangements.
Overview
Integrated genomic study by The Cancer Genome Atlas of 66 chromophobe renal cell carcinomas including whole-genome sequencing, showing loss of chromosomes 1, 2, 6, 10, 13 and 17, mutations in TP53 and PTEN, recurrent structural rearrangements within the TERT promoter, mitochondrial DNA mutations, and an expression profile pointing to the distal nephron as the cell of origin.
- Characteristic losses of chromosomes 1, 2, 6, 10, 13 and 17.
- TP53 (32 percent) and PTEN (9 percent) mutations; TERT promoter rearrangements; distal nephron origin.
Chromophobe renal cell carcinoma is a biologically distinct disease that should not be lumped with clear cell cancer in trials or treatment, which is why its page separates the two.
- Small cohort; therapeutic implications are still being worked out.