%0 Journal Article
%A Kaulen, Leon
%A Denisova, Evgeniya
%A Hinz, Felix
%A Hai, Ling
%A Friedel, Dennis
%A Henegariu, Octavian
%A Hoffmann, Dirk Carsten Frieder
%A Ito, Jakob
%A Kourtesakis, Alexandros
%A Lehnert, Pascal
%A Doubrovinskaia, Sofia
%A Karschnia, Philipp
%A von Baumgarten, Louisa
%A Kessler, Tobias
%A Baehring, Joachim M
%A Brors, Benedikt
%A Sahm, Felix
%A Wick, Wolfgang
%T Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas.
%J Acta neuropathologica
%V 146
%N 3
%@ 0001-6322
%C Heidelberg
%I Springer
%M DKFZ-2023-01509
%P 499-514
%D 2023
%Z #EA:B320#EA:B330#LA:B320# / 2023 Sep;146(3):499-514
%X Immunodeficiency-associated primary CNS lymphoma (PCNSL) represents a distinct clinicopathological entity, which is typically Epstein-Barr virus-positive (EBV+) and carries an inferior prognosis. Genetic alterations that characterize EBV-related CNS lymphomagenesis remain unclear precluding molecular classification and targeted therapies. In this study, a comprehensive genetic analysis of 22 EBV+ PCNSL, therefore, integrated clinical and pathological information with exome and RNA sequencing (RNASeq) data. EBV+ PCNSL with germline controls carried a median of 55 protein-coding single nucleotide variants (SNVs; range 24-217) and 2 insertions/deletions (range 0-22). Genetic landscape was largely shaped by aberrant somatic hypermutation with a median of 41.01
%K Epstein-Barr virus (Other)
%K Exome sequencing (Other)
%K Genetics (Other)
%K Immunodeficiency (Other)
%K Non-Hodgkin lymphoma (Other)
%K Primary CNS lymphoma (Other)
%K RNA sequencing (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:37495858
%R 10.1007/s00401-023-02613-w
%U https://inrepo02.dkfz.de/record/277798