Genomics in acute lymphoblastic leukaemia: insights and treatment implications

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dc.contributor.authorRoberts, K.
dc.contributor.authorMullighan, C.
dc.date.issued2015
dc.description.abstractAcute lymphoblastic leukaemia (ALL) is the commonest childhood cancer and an important cause of morbidity from haematological malignancies in adults. In the past several years, we have witnessed major advances in the understanding of the genetic basis of ALL. Genome-wide profiling studies, including microarray analysis and genome sequencing, have helped identify multiple key cellular pathways that are frequently mutated in ALL such as lymphoid development, tumour suppression, cytokine receptors, kinase and Ras signalling, and chromatin remodeling. These studies have characterized new subtypes of ALL, notably Philadelphia chromosome-like ALL, which is a high-risk subtype characterized by a diverse range of alterations that activate cytokine receptors or tyrosine kinases amenable to inhibition with approved tyrosine kinase inhibitors. Genomic profiling has also enabled the identification of inherited genetic variants of ALL that influence the risk of leukaemia development, and characterization of the relationship between genetic variants, clonal heterogeneity and the risk of relapse. Many of these findings are of direct clinical relevance and ongoing studies implementing clinical sequencing in leukaemia diagnosis and management have great potential to improve the outcome of patients with high-risk ALL.
dc.description.statementofresponsibilityKathryn G. Roberts and Charles G. Mullighan
dc.identifier.citationNature Reviews Clinical Oncology, 2015; 12(6):344-357
dc.identifier.doi10.1038/nrclinonc.2015.38
dc.identifier.issn1759-4782
dc.identifier.issn1759-4782
dc.identifier.orcidMullighan, C. [0000-0002-1871-1850]
dc.identifier.urihttp://hdl.handle.net/2440/103910
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.grantNHMRC
dc.rights© 2015 Macmillan Publishers Limited. All rights reserved
dc.source.urihttps://doi.org/10.1038/nrclinonc.2015.38
dc.subjectChromosomes, Human, Pair 21
dc.subjectHumans
dc.subjectRecurrence
dc.subjectTrans-Activators
dc.subjectReceptors, Cytokine
dc.subjectDNA, Neoplasm
dc.subjectGene Expression Profiling
dc.subjectSequence Analysis, DNA
dc.subjectGenomics
dc.subjectEpigenesis, Genetic
dc.subjectGene Amplification
dc.subjectGene Rearrangement
dc.subjectDiploidy
dc.subjectMutation
dc.subjectAdolescent
dc.subjectAdult
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectInfant
dc.subjectGenes, Neoplasm
dc.subjectJanus Kinases
dc.subjectPrecursor Cell Lymphoblastic Leukemia-Lymphoma
dc.subjectGenetic Variation
dc.subjectYoung Adult
dc.subjectTranscriptional Regulator ERG
dc.titleGenomics in acute lymphoblastic leukaemia: insights and treatment implications
dc.typeJournal article
pubs.publication-statusPublished

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