Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution
Author(s)
Type
Journal Article
Abstract
Papillary renal cell carcinoma (pRCC) is an important subtype of kidney cancer with a problematic pathological classification and highly variable clinical behaviour. Here we sequence the genomes or exomes of 31 pRCCs, and in four tumours, multi-region sequencing is undertaken. We identify BAP1, SETD2, ARID2 and Nrf2 pathway genes (KEAP1, NHE2L2 and CUL3) as probable drivers, together with at least eight other possible drivers. However, only ~10% of tumours harbour detectable pathogenic changes in any one driver gene, and where present, the mutations are often predicted to be present within cancer sub-clones. We specifically detect parallel evolution of multiple SETD2 mutations within different sub-regions of the same tumour. By contrast, large copy number gains of chromosomes 7, 12, 16 and 17 are usually early, monoclonal changes in pRCC evolution. The predominance of large copy number variants as the major drivers for pRCC highlights an unusual mode of tumorigenesis that may challenge precision medicine approaches.
Date Issued
2015-03-19
Date Acceptance
2015-01-21
Citation
Nature Communications, 2015, 6
ISSN
2041-1723
Publisher
Nature Publishing Group
Journal / Book Title
Nature Communications
Volume
6
Copyright Statement
This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
License URL
Subjects
Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
COMPARATIVE GENOMIC HYBRIDIZATION
CELL CARCINOMA
CLEAR-CELL
COPY NUMBER
TUMOR TYPES
MET PROTOONCOGENE
GENE
INACTIVATION
ACTIVATION
ORIGIN
Adult
Aged
Aged, 80 and over
Antibodies, Monoclonal
Carcinoma, Renal Cell
Chromosome Mapping
Chromosomes
DNA Copy Number Variations
Exome
Exons
Female
Gene Expression Regulation, Neoplastic
Histone-Lysine N-Methyltransferase
Humans
Kidney Neoplasms
Loss of Heterozygosity
Male
Middle Aged
Mutation
Phylogeny
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
MD Multidisciplinary
Publication Status
Published
Article Number
6336