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@ARTICLE{Radke:179873,
author = {J. Radke$^*$ and N. Ishaque and R. Koll$^*$ and Z. Gu and
E. Schumann$^*$ and L. Sieverling$^*$ and S. Uhrig and D.
Hübschmann$^*$ and U. H. Toprak$^*$ and C. López and X. P.
Hostench and S. Borgoni$^*$ and D. Juraeva and F.
Pritsch$^*$ and N. Paramasivam and G. P. Balasubramanian$^*$
and M. Schlesner$^*$ and S. Sahay and M. Weniger$^*$ and D.
Pehl and H. Radbruch and A. Osterloh and A. Korfel and M.
Misch and J. Onken and K. Faust and P. Vajkoczy and D.
Moskopp and Y. Wang and A. Jödicke and L. Trümper and I.
Anagnostopoulos and D. Lenze and R. Küppers and M. Hummel
and C. A. Schmitt and O. Wiestler$^*$ and S. Wolf$^*$ and A.
Unterberg and R. Eils$^*$ and C. Herold-Mende and B. Brors
and R. Siebert and S. Wiemann$^*$ and F. L. Heppner$^*$ and
R. Siebert and S. Wagner and A. Haake and J. Richter and G.
Richter and R. Eils$^*$ and C. Lawerenz and J. Eils and J.
Kerssemakers and C. Jaeger-Schmidt and I. Scholz and A. K.
Bergmann and C. Borst and F. Braulke and B. Burkhardt and A.
Claviez and M. Dreyling and S. Eberth and H. Einsele and N.
Frickhofen and S. Haas and M.-L. Hansmann and D. Karsch and
N. Klepl and M. Kneba and J. Lisfeld and L.
Mantovani-Löffler and M. Rohde and G. Ott and C. Stadler
and P. Staib and S. Stilgenbauer and T. Zenz and M.-L.
Hansmann and D. Kube and S. Haas and W. Klapper and U.
Kostezka and P. Möller and A. Rosenwald and G. Ott and M.
Szczepanowski and O. Ammerpohl and S. M. Aukema and V.
Binder and A. Borkhardt and A. Haake and J. I. Hoell and E.
Leich and P. Lichter$^*$ and C. López and I. Nagel and J.
Pischimariov and B. Radlwimmer$^*$ and J. Richter and P.
Rosenstiel and A. Rosenwald and M. Schilhabel and S.
Schreiber and I. Vater and R. Wagener and R. Siebert and S.
H. Bernhart and H. Binder and G. Doose and R. Eils$^*$ and
S. Hoffmann and L. Hopp and K. Kleinheinz$^*$ and H.
Kretzmer and M. Kreuz and J. Korbel and D. Langenberger and
M. Loeffler and M. Rosolowski and P. F. Stadler and S.
Sungalee},
collaboration = {I. M. Consortium},
title = {{T}he genomic and transcriptional landscape of primary
central nervous system lymphoma.},
journal = {Nature Communications},
volume = {13},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2022-00940},
pages = {2558},
year = {2022},
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.},
cin = {BE01 / B330 / HD01 / B087 / B062 / W610 / ED01 / W190 /
B060 / B050 / B080},
ddc = {500},
cid = {I:(DE-He78)BE01-20160331 / I:(DE-He78)B330-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)B087-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)W610-20160331 /
I:(DE-He78)ED01-20160331 / I:(DE-He78)W190-20160331 /
I:(DE-He78)B060-20160331 / I:(DE-He78)B050-20160331 /
I:(DE-He78)B080-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:35538064},
doi = {10.1038/s41467-022-30050-y},
url = {https://inrepo02.dkfz.de/record/179873},
}