PMID- 11333138 OWN - NLM STAT- MEDLINE DCOM- 20010802 LR - 20071115 IS - 0268-960X (Print) IS - 0268-960X (Linking) VI - 15 IP - 1 DP - 2001 Mar TI - The detection and significance of chromosomal abnormalities in childhood acute lymphoblastic leukaemia. PG - 49-59 AB - 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. CI - Copyright 2001 Harcourt Publishers Ltd. FAU - Harrison, C J AU - Harrison CJ AD - 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. cjh@rfc.ucl.ac.uk LA - eng PT - Journal Article PT - Review PL - England TA - Blood Rev JT - Blood reviews JID - 8708558 SB - IM MH - Adult MH - Child, Preschool MH - *Chromosome Aberrations MH - *Chromosome Disorders MH - Cytogenetic Analysis MH - Humans MH - Leukemia-Lymphoma, Adult T-Cell/epidemiology/genetics MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/epidemiology/*genetics RF - 117 EDAT- 2001/05/03 10:00 MHDA- 2001/08/03 10:01 CRDT- 2001/05/03 10:00 PHST- 2001/05/03 10:00 [pubmed] PHST- 2001/08/03 10:01 [medline] PHST- 2001/05/03 10:00 [entrez] AID - S0268-960X(01)90150-X [pii] AID - 10.1054/blre.2001.0150 [doi] PST - ppublish SO - Blood Rev. 2001 Mar;15(1):49-59. doi: 10.1054/blre.2001.0150.