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Radke, Josefine; Ishaque, Naveed; Koll, Randi; Gu, Zuguang; Schumann, Elisa; Sieverling, Lina; Uhrig, Sebastian; Hübschmann, Daniel; Toprak, Umut H.; López, Cristina; Hostench, Xavier Pastor; Borgoni, Simone; Juraeva, Dilafruz; Pritsch, Fabienne; Paramasivam, Nagarajan; Balasubramanian, Gnana Prakash; Schlesner, Matthias; Sahay, Shashwat; Weniger, Marc; Pehl, Debora; Radbruch, Helena; Osterloh, Anja; Korfel, Agnieszka; Misch, Martin; [...]

The genomic and transcriptional landscape of primary central nervous system lymphoma

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  • Medientyp: E-Artikel
  • Titel: The genomic and transcriptional landscape of primary central nervous system lymphoma
  • Beteiligte: Radke, Josefine; Ishaque, Naveed; Koll, Randi; Gu, Zuguang; Schumann, Elisa; Sieverling, Lina; Uhrig, Sebastian; Hübschmann, Daniel; Toprak, Umut H.; López, Cristina; Hostench, Xavier Pastor; Borgoni, Simone; Juraeva, Dilafruz; Pritsch, Fabienne; Paramasivam, Nagarajan; Balasubramanian, Gnana Prakash; Schlesner, Matthias; Sahay, Shashwat; Weniger, Marc; Pehl, Debora; Radbruch, Helena; Osterloh, Anja; Korfel, Agnieszka; Misch, Martin; [...]
  • Erschienen: Springer Science and Business Media LLC, 2022
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-022-30050-y
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>MYD88</jats:italic> L265P (67%) and <jats:italic>CD79B</jats:italic> (63%), and <jats:italic>CDKN2A</jats:italic> 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. <jats:italic>TERT</jats:italic> 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 <jats:italic>HLA-DRB</jats:italic> loci. We show that PCNSL can be clearly distinguished from DLBCL, having distinct expression profiles, <jats:italic>IG</jats:italic> expression and translocation patterns, as well as specific combinations of genetic alterations.</jats:p>
  • Zugangsstatus: Freier Zugang