Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada.
Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351.
Follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) are the two most common non-Hodgkin lymphomas (NHLs). Here we sequenced tumour and matched normal DNA from 13 DLBCL cases and one FL case to identify genes with mutations in B-cell NHL. We analysed RNA-seq data from these and another 113 NHLs to identify genes with candidate mutations, and then re-sequenced tumour and matched normal DNA from these cases to confirm 109 genes with multiple somatic mutations. Genes with roles in histone modification were frequent targets of somatic mutation. For example, 32% of DLBCL and 89% of FL cases had somatic mutations in MLL2, which encodes a histone methyltransferase, and 11.4% and 13.4% of DLBCL and FL cases, respectively, had mutations in MEF2B, a calcium-regulated gene that cooperates with CREBBP and EP300 in acetylating histones. Our analysis suggests a previously unappreciated disruption of chromatin biology in lymphomagenesis.
滤泡性淋巴瘤(FL)和弥漫性大 B 细胞淋巴瘤(DLBCL)是非霍奇金淋巴瘤(NHL)中最常见的两种类型。在这里,我们对 13 例 DLBCL 病例和 1 例 FL 病例的肿瘤和配对正常 DNA 进行了测序,以鉴定 B 细胞 NHL 中具有突变的基因。我们分析了这些病例和另外 113 例 NHL 的 RNA-seq 数据,以鉴定候选突变基因,然后对这些病例的肿瘤和配对正常 DNA 进行了重新测序,以确认 109 个具有多个体细胞突变的基因。参与组蛋白修饰的基因是体细胞突变的频繁靶点。例如,32%的 DLBCL 病例和 89%的 FL 病例存在编码组蛋白甲基转移酶的 MLL2 体细胞突变,而分别有 11.4%和 13.4%的 DLBCL 和 FL 病例存在 MEF2B 突变,MEF2B 是一种钙调节基因,与 CREBBP 和 EP300 协同作用,乙酰化组蛋白。我们的分析表明,在淋巴瘤发生过程中,染色质生物学以前未被认识到的破坏。