Researchers from British Columbia Cancer Agency used whole genome sequencing to analyze 40 DLBCL cases and 13 cell lines in order to fill in the gaps of the complex landscape of DLBCL genomes. Their analysis, “Mutational and structural analysis of diffuse large B-cell lymphoma using whole genome sequencing,” was published online in Blood on May 22. The authors are Ryan Morin, Marco Marra, and colleagues.
The analyses reveal 74 frequently mutated genes, 41 of which were not previously reported. Additionally, DLBCLs have genomic rearrangements, including known and novel fusion transcripts and in a few cases, chromothripsis, a devastating local shattering and reshuffling of genomic regions. Through clonal frequency analysis, the authors determine a timeline of mutation events during the initiation and progression of DLBCL. Taken together, this study is a very comprehensive and integrative analysis of the DLBCL genome.
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