Study: JGAS00000000021




TitleGenomics characterization of primary central nervous system lymphoma
AbstractPrimary central nervous system lymphoma (PCNSL) is a rare malignancy confined to the central nervous system (CNS). Despite low tendency of systemic dissemination, its prognosis is poor with median overall survival of 2–4 years. Due to its rarity, knowledge of genomic alterations underling PCNSL pathogenesis is severely limited. Here we performed whole-exome sequencing on 44 PCNSL and paired normal specimens, revealing high penetrance of nonsynonymous somatic mutations in PIM1 (95.5%), BTG2 (88.6%) and MYD88 (81.8%). Interestingly we found oncogenic mutations in GRB2, and this effect was cancelled when transformed cells are treated with inhibitors to downstream kinases MAP2K1/2. Further, when tumor cells carries MYD88 mutations, the same mutations were also found at low frequency in peripheral blood mononuclear cells (PBMNC), implying that MYD88 mutation–positive precancerous cells originate outside CNS and develop to lymphoma with additional genetic hits that fit the CNS environment.
Study Type 1
Study TypeExome Sequencing
Study Type 2
Study TypeTumor vs. Matched-Normal


PubMed ID26757737
Publication Statuspublished

Study Attribute

NBDC Numberhum0017
Registration date2015-03-05
Submitting organizationDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo
Accession Title Dataset type Data objects Policy
JGAD00000000021 Comprehensive analysis of PCNSL Random exome sequencing 112 JGAP00000000001