التفاصيل البيبلوغرافية
| العنوان: |
The genomic and transcriptional landscape of primary central nervous system lymphoma |
| المؤلفون: |
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, Onken, Julia, Faust, Katharina, Vajkoczy, Peter, Moskopp, Dag, Wang, Yawen, Jödicke, Andreas, Trümper, Lorenz, Anagnostopoulos, Ioannis, Lenze, Dido, Küppers, Ralf, Hummel, Michael, Schmitt, Clemens A., Wiestler, Otmar D., Wolf, Stephan, Unterberg, Andreas, Eils, Roland, Herold-Mende, Christel, Brors, Benedikt, Siebert, Reiner, Wagner, Susanne, Haake, Andrea, Richter, Julia, Richter, Gesine, Lawerenz, Chris, Eils, Jürgen, Kerssemakers, Jules, Jaeger-Schmidt, Christina, Scholz, Ingrid, Bergmann, Anke K., Borst, Christoph, Braulke, Friederike, Burkhardt, Birgit, Claviez, Alexander, Dreyling, Martin, Eberth, Sonja, Einsele, Hermann, Frickhofen, Norbert, Haas, Siegfried, Hansmann, Martin-Leo, Karsch, Dennis, Klepl, Nicole, Kneba, Michael, Lisfeld, Jasmin, Mantovani-Löffler, Luisa, Rohde, Marius, Ott, German, Stadler, Christina, Staib, Peter, Stilgenbauer, Stephan, Zenz, Thorsten, Kube, Dieter, Klapper, Wolfram, Kostezka, Ulrike, Möller, Peter, Rosenwald, Andreas, Szczepanowski, Monika, Ammerpohl, Ole, Aukema, Sietse M., Binder, Vera, Borkhardt, Arndt, Hoell, Jessica I., Leich, Ellen, Lichter, Peter, Nagel, Inga, Pischimariov, Jordan, Radlwimmer, Bernhard, Rosenstiel, Philip, Schilhabel, Markus, Schreiber, Stefan, Vater, Inga, Wagener, Rabea, Bernhart, Stephan H., Binder, Hans, Doose, Gero, Hoffmann, Steve, Hopp, Lydia, Kleinheinz, Kortine, Kretzmer, Helene, Kreuz, Markus, Korbel, Jan, Langenberger, David, Loeffler, Markus, Rosolowski, Maciej, Stadler, Peter F., Sungalee, Stephanie, Wiemann, Stefan, Heppner, Frank L., ICGC MMML-Seq Consortium, Coordination (C1), Data Center (C2), Clinical Centers (WP1), Normal Cells (WPN), Pathology and Analyte Preparation (WP2-3), Sequencing and genomics (WP4-7), Bioinformatics (WP8-9) |
| سنة النشر: |
2022 |
| المجموعة: |
FU Berlin: Refubium |
| مصطلحات موضوعية: |
central nervous system, primary lymphomas, Lymphoma, Large B-Cell, ddc:610 |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
https://refubium.fu-berlin.de/handle/fub188/42211Test; http://dx.doi.org/10.17169/refubium-41937Test |
| DOI: |
10.17169/refubium-41937 |
| DOI: |
10.1038/s41467-022-30050-y |
| الإتاحة: |
https://doi.org/10.17169/refubium-41937Test
https://doi.org/10.1038/s41467-022-30050-yTest
https://refubium.fu-berlin.de/handle/fub188/42211Test |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.4B301216 |
| قاعدة البيانات: |
BASE |
