原发性中枢神经系统淋巴瘤的基因组和转录组图谱。
The genomic and transcriptional landscape of primary central nervous system lymphoma.
机构信息
Department of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Berlin, Germany.
German Cancer Consortium (DKTK), Partner Site Charité Berlin, Berlin, Germany.
出版信息
Nat Commun. 2022 May 10;13(1):2558. doi: 10.1038/s41467-022-30050-y.
Primary lymphomas of the central nervous system (PCNSL) are mainly diffuse large B-cell lymphomas (DLBCLs) confined to the central nervous system (CNS). Molecular drivers of PCNSL have not been fully elucidated. Here, we profile and compare the whole-genome and transcriptome landscape of 51 CNS lymphomas (CNSL) to 39 follicular lymphoma and 36 DLBCL cases outside the CNS. We find recurrent mutations in JAK-STAT, NFkB, and B-cell receptor signaling pathways, including hallmark mutations in MYD88 L265P (67%) and CD79B (63%), and CDKN2A deletions (83%). PCNSLs exhibit significantly more focal deletions of HLA-D (6p21) locus as a potential mechanism of immune evasion. Mutational signatures correlating with DNA replication and mitosis are significantly enriched in PCNSL. TERT gene expression is significantly higher in PCNSL compared to activated B-cell (ABC)-DLBCL. Transcriptome analysis clearly distinguishes PCNSL and systemic DLBCL into distinct molecular subtypes. Epstein-Barr virus (EBV)+ CNSL cases lack recurrent mutational hotspots apart from IG and HLA-DRB loci. We show that PCNSL can be clearly distinguished from DLBCL, having distinct expression profiles, IG expression and translocation patterns, as well as specific combinations of genetic alterations.
原发性中枢神经系统淋巴瘤(PCNSL)主要为局限于中枢神经系统(CNS)的弥漫性大 B 细胞淋巴瘤(DLBCL)。PCNSL 的分子驱动因素尚未完全阐明。在这里,我们对 51 例中枢神经系统淋巴瘤(CNSL)与 39 例结外滤泡性淋巴瘤和 36 例 DLBCL 病例的全基因组和转录组图谱进行了分析和比较。我们发现 JAK-STAT、NFkB 和 B 细胞受体信号通路中存在反复出现的突变,包括 MYD88 L265P(67%)和 CD79B(63%)的标志性突变,以及 CDKN2A 缺失(83%)。PCNSL 表现出明显更多的 HLA-D(6p21)基因座的局灶性缺失,这可能是免疫逃避的潜在机制。与 DNA 复制和有丝分裂相关的突变特征在 PCNSL 中显著富集。与激活 B 细胞(ABC)-DLBCL 相比,PCNSL 中 TERT 基因表达明显更高。转录组分析清楚地区分了 PCNSL 和系统性 DLBCL 为不同的分子亚型。除了 IG 和 HLA-DRB 基因座外,EBV+ CNSL 病例缺乏反复出现的突变热点。我们表明,PCNSL 可以与 DLBCL 明显区分开来,具有不同的表达谱、IG 表达和易位模式,以及特定的遗传改变组合。