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| Item Type: | Article |
|---|---|
| Title: | The genomic and transcriptional landscape of primary central nervous system lymphoma |
| Creators Name: | Radke, J., Ishaque, N., Koll, R., Gu, Z., Schumann, E., Sieverling, L., Uhrig, S., Hübschmann, D., Toprak, U.H., López, C., Hostench, X.P., Borgoni, S., Juraeva, D., Pritsch, F., Paramasivam, N., Balasubramanian, G.P., Schlesner, M., Sahay, S., Weniger, M., Pehl, D., Radbruch, H., Osterloh, A., Korfel, A., Misch, M., Onken, J., Faust, K., Vajkoczy, P., Moskopp, D., Wang, Y., Jödicke, A., Trümper, L., Anagnostopoulos, I., Lenze, D., Küppers, R., Hummel, M., Schmitt, C.A., Wiestler, O.D., Wolf, S., Unterberg, A., Eils, R., Herold-Mende, C., Brors, B., Siebert, R., Wiemann, S. and Heppner, F.L. |
| 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. |
| Keywords: | B-Cell Lymphoma, Cancer Genomics, CNS Cancer |
| Source: | Nature Communications |
| ISSN: | 2041-1723 |
| Publisher: | Nature Publishing Group |
| Volume: | 13 |
| Number: | 1 |
| Page Range: | 2558 |
| Date: | 10 May 2022 |
| Official Publication: | https://doi.org/10.1038/s41467-022-30050-y |
| PubMed: | View item in PubMed |
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