Mutational profile of Diffuse Large B-cell Lymphoma with central nervous system relapse: analysis of CBioPortal for Cancer Genomics database

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Elena Voropaeva¹, Yuriy Orlov², Olga Beresina³, Tatyana Pospelova⁴, Viktoria Karpova⁵, Vladimir Maximov⁶, Elizaveta Melnikova⁷, Anastasia Ivanova⁸, Anna Gurageva⁹, Maria Churkina^10
1IITPM – Branch of ICG SB RAS, vena.81@mail.ru
²I.M.Sechenov First Moscow State Medical University, orlov_yury@yahoo.com
³NSMU,, ovb-mail@ya.ru
⁴NSMU, postatgem@mail.ru
⁵State Regional Clinical Hospital, vicka-34@ngs.ru
⁶IITPM – Branch of ICG SB RAS, medik11@mail.ru
⁷IITPM – Branch of ICG SB RAS, jarinaleksi@list.ru
⁸IITPM – Branch of ICG SB RAS, ivanova_a_a@mail.ru
⁹IITPM – Branch of ICG SB RAS, annapalna1@mail.ru
¹⁰NSMU, nats.sagan@yandex.ru

In this study, based on the information presented in the specialized resource CBioPortal for Cancer Genomics database, the data on the diffuse large B-cell lymphoma (DLBCL) mutation profile detected by next generation sequencing (NGS) methods have been analyzed. The features associated with a high risk of secondary central nervous system (CNS) involvement have been highlighted. In patients with DLBCL and secondary CNS involvement, the most frequently mutated genes were MYD88, PIM1, CARD11 and CD79B. These genes related to the BCR/NF-kB signaling pathway. The MYD88, PIM1 and CD79B genes mutations were often combined and, in total, occurred in 39.6% of cases in patients with CNS relapsed DLBCL.