Dissecting aggressive B-cell lymphoma through genomic analysis – What is clinically relevant?

David W. Scott, Lisa M. Rimsza

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


The aggressive B-cell lymphomas are a diverse collection of cancers grouped together based on clinical behavior and derivation from B lymphocytes. Genomic analyses on these tumours are now translating into improved classification systems and identification of underpinning targetable biology. Simple karyotyping revealed key translocations involving MYC, BCL2, and BCL6 that have impacted lymphoma classification in the World Health Organization classification scheme. Subsequently, gene expression profiling identified molecular subgroups within the most common lymphoma, diffuse large B-cell lymphoma (DLBCL): activated B-cell-like and germinal centre B-cell-like. Finally, next generation sequencing has revealed a modest number of frequently mutated genes and a long list of infrequent mutations. The mutational landscapes involve diverse genes associated with dysregulated signalling, epigenetic modification, blockade of cellular differentiation, and immune evasion. These mutational “signatures” are enriched in the different aggressive lymphoma subtypes impacting phenotypes and identifying therapeutic targets. Challenges to implementing genomic assays into clinical practice remain.

Original languageEnglish (US)
Pages (from-to)187-198
Number of pages12
JournalBest Practice and Research: Clinical Haematology
Issue number3
StatePublished - Sep 2018


  • Biomarkers
  • Gene expression
  • Genomics
  • Lymphoma
  • Precision medicine
  • Translocations

ASJC Scopus subject areas

  • Oncology
  • Clinical Biochemistry


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