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.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19fa/9091224/0703f69735da/41467_2022_30050_Fig1_HTML.jpg

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