Document Detail

GATA1 mutations in acute leukemia in children with Down syndrome.
MedLine Citation:
PMID:  16631466     Owner:  NLM     Status:  MEDLINE    
It has been reported that somatic mutations in the X-linked GATA1 gene are present in hematological clonal disorders in children with Down syndrome (DS). We analyzed retrospective samples of DS children with acute myeloid leukemia, transient leukemia (TL), and myelodysplastic syndrome (MDS) to test whether the specificity of GATA1 mutations can be helpful in distinguishing these hematopoietic disorders. A total of 49 samples were subjected to GATA1 mutation screening by direct sequencing and denaturing polyacrylamide gel electrophoresis (PAGE). Mutations in exon 2 of GATA1 were detected in six of eight DS-AML M7 samples and in four of six DS-TL; no mutation was detected in 13 children with acute lymphoblastic leukemia (DS-ALL), 6 with DS-AML (M0, M2, and M5), 6 with DS-MDS and in 8 DS infants without hematological disorders and 2 children with AML M7 without DS. Blast cells proportion in the sample represented a critical aspect on the sensitivity of mutation detection in GATA1, and a combination of sequence analysis and PAGE is necessary to detect mutations when blast percentage is low. The absence of detected mutations in any of the DS-MDS cases raises the question whether MDS in DS children is an intermediate stage between TL and AML M7, as previously suggested.
Isis Quezado Magalhães; Alessandra Splendore; Mariana Emerenciano; Alexandre Figueiredo; Iris Ferrari; Maria S Pombo-de-Oliveira
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  166     ISSN:  0165-4608     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2006 Apr 
Date Detail:
Created Date:  2006-04-24     Completed Date:  2006-05-25     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  112-6     Citation Subset:  IM    
Departamento de Hematologia/Oncologia Pediátrica SES-DF, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
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MeSH Terms
Case-Control Studies
Child, Preschool
DNA Mutational Analysis
Down Syndrome / genetics*
GATA1 Transcription Factor / genetics*
Infant, Newborn
Leukemia, Myeloid, Acute / genetics*
Mutation / genetics*
Reg. No./Substance:
0/GATA1 Transcription Factor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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