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

Publication date: Available online 7 July 2018Source: Best Practice & Research Clinical HaematologyAuthor(s): David W. Scott, Lisa M. RimszaAbstractThe 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 center 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 signaling, 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.

Source: Best Practice and Research Clinical Haematology - July 10, 2018 Category: Hematology Source Type: research