Document Detail

The detection and significance of chromosomal abnormalities in childhood acute lymphoblastic leukaemia.
MedLine Citation:
PMID:  11333138     Owner:  NLM     Status:  MEDLINE    
In childhood acute lymphoblastic leukaemia (ALL), cytogenetics plays an essential role in diagnosis and prediction of outcome. Conventional cytogenetic analysis, complemented by fluorescence in situ hybridization (FISH), is highly effective in the accurate detection of chromosomal abnormalities. For the precise identification of specific genetic changes, molecular techniques may be applied. Chromosomal changes in ALL may be of structural or numerical type. A large number of established structural chromosomal rearrangements have now been described for which the genetic alterations and effect on prognosis are well known. These include t(9;22)(q34;q11) and BCR/ABL, rearrangements of 11q23 involving MLL, t(12;21)(p13;q22) with the ETV6/AML1 fusion, t(1;19)(q23;p13) with E2A/PBX1, t(8;14)(q24;q32) and the immunoglobulin genes. Genetic changes associated with T ALL are also known, although their effect on outcome is less pronounced. Rare chromosomal abnormalities are continually being discovered in small patient subgroups leading to the identification of new ALL associated genetic changes. Alterations in chromosome number have a strong impact on outcome in childhood ALL. The association of a high hyperdiploid karyotype (51-65 chromosomes) with a good prognosis has been known for more than 20 years. Conversely, the loss of chromosomes in the near-haploid group (23-28 chromosomes) indicates a poor outcome. New methods of cancer classification involving gene expression profiling may eventually supercede cytogenetic analysis in the diagnosis and prediction of outcome in leukaemia. It is more likely that they will be used in a complementary approach alongside cytogenetic, FISH and molecular analysis to guide patient management in childhood ALL.
C J Harrison
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Blood reviews     Volume:  15     ISSN:  0268-960X     ISO Abbreviation:  Blood Rev.     Publication Date:  2001 Mar 
Date Detail:
Created Date:  2001-05-02     Completed Date:  2001-08-02     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8708558     Medline TA:  Blood Rev     Country:  Scotland    
Other Details:
Languages:  eng     Pagination:  49-59     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Harcourt Publishers Ltd.
Leukaemia Research Fund/UK Cancer Cytogenetics Group Karyotype Database in Acute Lymphoblastic Leukaemia, Department of Haematology, Royal Free and University College School of Medicine, Rowland Hill Street, London, UK.
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MeSH Terms
Child, Preschool
Chromosome Aberrations*
Chromosome Disorders*
Cytogenetic Analysis
Leukemia-Lymphoma, Adult T-Cell / epidemiology,  genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma / epidemiology,  genetics*

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