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肺癌基因组的分析结果

摘要 : 来自“癌症基因组图谱研究网络”的研究人员在新研究中,发布230个切除的、未处理过的肺腺癌样本的分子特征。这些数据为对全世界因癌症而造成死亡的主要原因进行分类和进一步研究奠定了基础。相关文章发表于2014年7月9日的《Nature》杂志上。

对转录组、基因组、甲基化组和蛋白质组所做的综合分析识别出了高速度的体细胞突变、包括RIT1 和MGA在内的显著突变的基因以及由体细胞基因组变化驱动的剪接改变,并且说明存在使MAPK 和PI(3)K通道活性发生改变的尚未被识别出的病变。

这些数据为对全世界因癌症而造成死亡的主要原因进行分类和进一步研究奠定了基础。

原文摘要:

Comprehensive molecular profiling of lung adenocarcinoma

The Cancer Genome Atlas Research Network

Adenocarcinoma of the lung is the leading cause of cancer death worldwide. Here we report molecular profiling of 230 resected lung adenocarcinomas using messenger RNA, microRNA and DNA sequencing integrated with copy number, methylation and proteomic analyses. High rates of somatic mutation were seen (mean 8.9 mutations per megabase). Eighteen genes were statistically significantly mutated, including RIT1 activating mutations and newly described loss-of-function MGAmutations which are mutually exclusive with focal MYC amplification. EGFR mutations were more frequent in female patients, wheras mutations in RBM10 were more common in males. Aberrations in NF1, MET, ERBB2 and RIT1 occurred in 13% of cases and were enriched in samples otherwise lacking an activated oncogene, suggesting a driver role for these events in certain tumours. DNA and mRNA sequence from the same tumour highlighted splicing alterations driven by somatic genomic changes, including exon 14 skipping in MET mRNA in 4% of cases. MAPK and PI(3)K pathway activity, when measured at the protein level, was explained by known mutations in only a fraction of cases, suggesting additional, unexplained mechanisms of pathway activation. These data establish a foundation for classification and further investigations of lung adenocarcinoma molecular pathogenesis.

对应Nature杂志: 2014年7月31日Nature杂志精选

来源: Nature 浏览次数:1030

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