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The genomic landscape of chronic lymphocytic leukaemia: biological and clinical implications

The genomic landscape of chronic lymphocytic leukaemia: biological and clinical implications
The genomic landscape of chronic lymphocytic leukaemia: biological and clinical implications
Chronic lymphocytic leukaemia (CLL) remains at the forefront of the genetic analysis of human tumours, principally due its prevalence, protracted natural history and accessibility to suitable material for analysis. With the application of high-throughput genetic technologies, we have an unbridled view of the architecture of the CLL genome, including a comprehensive description of the copy number and mutational landscape of the disease, a detailed picture of clonal evolution during pathogenesis, and the molecular mechanisms that drive genomic instability and therapeutic resistance. This work has nuanced the prognostic importance of established copy number alterations, and identified novel prognostically relevant gene mutations that function within biological pathways that are attractive treatment targets. Herein, an overview of recent genomic discoveries will be reviewed, with associated biological and clinical implications, and a view into how clinical implementation may be facilitated.
chronic lymphocytic leukaemia, genetic analysis, clinical aspects, prognostic factors
0007-1048
14-31
Strefford, Jonathan C.
3782b392-f080-42bf-bdca-8aa5d6ca532f
Strefford, Jonathan C.
3782b392-f080-42bf-bdca-8aa5d6ca532f

Strefford, Jonathan C. (2015) The genomic landscape of chronic lymphocytic leukaemia: biological and clinical implications. British Journal of Haematology, 169 (1), 14-31. (doi:10.1111/bjh.13254). (PMID:25496136)

Record type: Article

Abstract

Chronic lymphocytic leukaemia (CLL) remains at the forefront of the genetic analysis of human tumours, principally due its prevalence, protracted natural history and accessibility to suitable material for analysis. With the application of high-throughput genetic technologies, we have an unbridled view of the architecture of the CLL genome, including a comprehensive description of the copy number and mutational landscape of the disease, a detailed picture of clonal evolution during pathogenesis, and the molecular mechanisms that drive genomic instability and therapeutic resistance. This work has nuanced the prognostic importance of established copy number alterations, and identified novel prognostically relevant gene mutations that function within biological pathways that are attractive treatment targets. Herein, an overview of recent genomic discoveries will be reviewed, with associated biological and clinical implications, and a view into how clinical implementation may be facilitated.

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e-pub ahead of print date: 11 December 2014
Published date: 1 April 2015
Keywords: chronic lymphocytic leukaemia, genetic analysis, clinical aspects, prognostic factors
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 375735
URI: http://eprints.soton.ac.uk/id/eprint/375735
ISSN: 0007-1048
PURE UUID: 5ce665fb-db2e-445b-ab75-b7512bf9605e
ORCID for Jonathan C. Strefford: ORCID iD orcid.org/0000-0002-0972-2881

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Date deposited: 13 Apr 2015 13:23
Last modified: 15 Mar 2024 03:20

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