Volume 555 Issue 7696, 15 March 2018
Letter | 28 February 2018 | open
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours
Analysis of the genomes, exomes and transcriptomes of 1,699 childhood cancers identifies 142 driver genes.
Xiaotu Ma, Yu Liu… & Jinghui Zhang
Analysis of molecular aberrations across multiple cancer types, known as pan-cancer analysis, identifies commonalities and differences in key biological processes that are dysregulated in cancer cells from diverse lineages. Pan-cancer analyses have been performed for adult1,2,3,4 but not paediatric cancers, which commonly occur in developing mesodermic rather than adult epithelial tissues5. Here we present a pan-cancer study of somatic alterations, including single nucleotide variants, small insertions or deletions, structural variations, copy number alterations, gene fusions and internal tandem duplications in 1,699 paediatric leukaemias and solid tumours across six histotypes, with whole-genome, whole-exome and transcriptome sequencing data processed under a uniform analytical framework. We report 142 driver genes in paediatric cancers, of which only 45% match those found in adult pan-cancer studies; copy number alterations and structural variants constituted the majority (62%) of events. Eleven genome-wide mutational signatures were identified, including one attributed to ultraviolet-light exposure in eight aneuploid leukaemias…