Transient Myeloproliferative Disorder and GATA1 Mutation in Neonates With and Without Down Syndrome
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To report clinical experiences and cytogenetic findings of transient myeloproliferative disorder (TMD) in neonates with and without Down syndrome (DS).
GATA1 gene was screened in DNA samples from neonates presenting with TMD during their leukemic and remission status.
Six neonates (2 phenotypically normal and 4 DS) born in the past 6 years had presented with TMD; all had trisomy 21 during leukemic status. Two DS infants died during early infancy, one of hepatic failure and one of cardiac complication. One non-DS infant evolved into myelodysplastic syndrome (MDS) and acute leukemia since 14 months old. Three other patients have not developed true leukemia after follow-up of 8, 9, and 70 months, respectively. The authors detected mutations within exon 2 of GATA1 gene in 3 DS and 2 non-DS infants. All these mutations disappeared after remission of TMD, but an identical mutation was detected in one non-DS patient when evolving into MDS. Trisomy 21 was confined to leukemic clone in non-DS patients.
TMD should be considered in case of congenital leukemia with megakaryoblastic features and accompanied by trisomy 21 and GATA1 mutation. Both DS and non-DS patients will possibly develop true leukemia within few years.
KeywordsTransient myeloproliferative disorder Down syndrome GATA1 mutation Acute megakaryoblastic leukemia Trisomy 21
Contributions MHT; design and write this article, CPY; the corresponding author, JWH; responsible for all cytogenetic and all other five co-authors were major physicians of these patients during neonatal periods.
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