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Indian J Pediatr. 2011 Jul;78(7):826-32. doi: 10.1007/s12098-010-0312-x. Epub 2011 Feb 2.

Transient myeloproliferative disorder and GATA1 mutation in neonates with and without Down syndrome.

Author information

1
Division of Pediatric Hematology/Oncology, Department of Pediatrics, Chang Gung Memorial Hospital, 5, Fu-Shing St, Kwei-Shan, Taoyuan 333, Taiwan.

Abstract

OBJECTIVE:

To report clinical experiences and cytogenetic findings of transient myeloproliferative disorder (TMD) in neonates with and without Down syndrome (DS).

METHODS:

GATA1 gene was screened in DNA samples from neonates presenting with TMD during their leukemic and remission status.

RESULTS:

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.

CONCLUSIONS:

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.

PMID:
21287369
DOI:
10.1007/s12098-010-0312-x
[Indexed for MEDLINE]

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