GATA1 mutations in acute leukemia in children with Down syndrome

Cancer Genetics and Cytogenetics
Isis Q MagalhãesMaria S Pombo-de-Oliveira

Abstract

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...Continue Reading

References

Apr 1, 1992·Pediatric Hematology and Oncology·A ZipurskyJ Doyle
Aug 13, 2002·Nature Genetics·Joshua WechslerJohn D Crispino
Jan 5, 2005·Nature Reviews. Cancer·Johann K Hitzler, Alvin Zipursky

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Citations

Feb 7, 2007·Molecular and Cellular Biology·Xianyong MaDiane S Krause
Jul 6, 2014·Leukemia & Lymphoma·Suellen Valadares MouraMaria S Pombo-de-Oliveira
Jul 31, 2007·Critical Reviews in Oncology/hematology·Kathrin T DoepfnerAlexandre Arcaro
Dec 10, 2008·Blood Cells, Molecules & Diseases·Maria S Pombo de OliveiraUNKNOWN Brazilian Collaborative Study Group of Infant Acute Leukemia
Jul 1, 2011·Blood·Kate A AlfordUNKNOWN International Myeloid Leukemia-Down Syndrome Study Group
Jun 22, 2007·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·M EmerencianoM S Pombo-de-Oliveira
Jan 17, 2007·Current Opinion in Pediatrics·Paresh Vyas, John D Crispino
Sep 1, 2005·Human Mutation·Alessandra SplendoreMaria S Pombo-de-Oliveira
Feb 28, 2019·Frontiers in Physiology·Gloria BarbaraniAntonella E Ronchi

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