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Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours
Nature ( IF 50.5 ) Pub Date : 2018-02-28 , DOI: 10.1038/nature25795 Xiaotu Ma 1 , Yu Liu 1 , Yanling Liu 1 , Ludmil B Alexandrov 2 , Michael N Edmonson 1 , Charles Gawad 1 , Xin Zhou 1 , Yongjin Li 1 , Michael C Rusch 1 , John Easton 1 , Robert Huether 3 , Veronica Gonzalez-Pena 4 , Mark R Wilkinson 1 , Leandro C Hermida 5 , Sean Davis 6 , Edgar Sioson 1 , Stanley Pounds 7 , Xueyuan Cao 7 , Rhonda E Ries 8 , Zhaoming Wang 1 , Xiang Chen 1 , Li Dong 1 , Sharon J Diskin 9 , Malcolm A Smith 10 , Jaime M Guidry Auvil 5 , Paul S Meltzer 6 , Ching C Lau 11, 12 , Elizabeth J Perlman 13 , John M Maris 9 , Soheil Meshinchi 8 , Stephen P Hunger 9 , Daniela S Gerhard 5 , Jinghui Zhang 1
Nature ( IF 50.5 ) Pub Date : 2018-02-28 , DOI: 10.1038/nature25795 Xiaotu Ma 1 , Yu Liu 1 , Yanling Liu 1 , Ludmil B Alexandrov 2 , Michael N Edmonson 1 , Charles Gawad 1 , Xin Zhou 1 , Yongjin Li 1 , Michael C Rusch 1 , John Easton 1 , Robert Huether 3 , Veronica Gonzalez-Pena 4 , Mark R Wilkinson 1 , Leandro C Hermida 5 , Sean Davis 6 , Edgar Sioson 1 , Stanley Pounds 7 , Xueyuan Cao 7 , Rhonda E Ries 8 , Zhaoming Wang 1 , Xiang Chen 1 , Li Dong 1 , Sharon J Diskin 9 , Malcolm A Smith 10 , Jaime M Guidry Auvil 5 , Paul S Meltzer 6 , Ching C Lau 11, 12 , Elizabeth J Perlman 13 , John M Maris 9 , Soheil Meshinchi 8 , Stephen P Hunger 9 , Daniela S Gerhard 5 , Jinghui Zhang 1
Affiliation
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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 adult but not paediatric cancers, which commonly occur in developing mesodermic rather than adult epithelial tissues. 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. Transcription of the mutant allele was detectable for 34% of protein-coding mutations, and 20% exhibited allele-specific expression. These data provide a comprehensive genomic architecture for paediatric cancers and emphasize the need for paediatric cancer-specific development of precision therapies.
中文翻译：
1,699 例儿童白血病和实体瘤的泛癌基因组和转录组分析
对多种癌症类型的分子畸变分析（称为泛癌分析）可以识别不同谱系癌细胞中失调的关键生物过程的共性和差异。已经对成人而非儿童癌症进行了泛癌分析，儿童癌症通常发生在发育中的中胚层而不是成人上皮组织中。在这里，我们提出了一项体细胞改变的泛癌研究，包括 1,699 种儿童白血病和实体瘤的六种组织型的单核苷酸变异、小插入或缺失、结构变异、拷贝数改变、基因融合和内部串联重复，以及全基因组、全外显子组和转录组测序数据在统一的分析框架下处理。我们报告了儿科癌症中的 142 个驱动基因，其中只有 45% 与成人泛癌研究中发现的相匹配；拷贝数改变和结构变异构成了事件的大部分（62%）。鉴定出十一种全基因组突变特征，其中一种归因于八种非整倍体白血病的紫外线暴露。突变等位基因的转录可检测到 34% 的蛋白质编码突变，20% 表现出等位基因特异性表达。这些数据为儿科癌症提供了全面的基因组结构，并强调了针对儿科癌症开发精准疗法的必要性。
更新日期：2018-02-28
中文翻译：
1,699 例儿童白血病和实体瘤的泛癌基因组和转录组分析
对多种癌症类型的分子畸变分析（称为泛癌分析）可以识别不同谱系癌细胞中失调的关键生物过程的共性和差异。已经对成人而非儿童癌症进行了泛癌分析，儿童癌症通常发生在发育中的中胚层而不是成人上皮组织中。在这里，我们提出了一项体细胞改变的泛癌研究，包括 1,699 种儿童白血病和实体瘤的六种组织型的单核苷酸变异、小插入或缺失、结构变异、拷贝数改变、基因融合和内部串联重复，以及全基因组、全外显子组和转录组测序数据在统一的分析框架下处理。我们报告了儿科癌症中的 142 个驱动基因，其中只有 45% 与成人泛癌研究中发现的相匹配；拷贝数改变和结构变异构成了事件的大部分（62%）。鉴定出十一种全基因组突变特征，其中一种归因于八种非整倍体白血病的紫外线暴露。突变等位基因的转录可检测到 34% 的蛋白质编码突变，20% 表现出等位基因特异性表达。这些数据为儿科癌症提供了全面的基因组结构，并强调了针对儿科癌症开发精准疗法的必要性。
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