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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 7/2011

01-07-2011 | Original Article

Transient Myeloproliferative Disorder and GATA1 Mutation in Neonates With and Without Down Syndrome

Authors: Ming-Horng Tsai, Jia-Woei Hou, Chao-Ping Yang, Pong-Hong Yang, Shih-Ming Chu, Jen-Fu Hsu, Ming-Chou Chiang, Hsuan-Rong Huang

Published in: Indian Journal of Pediatrics | Issue 7/2011

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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.
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Metadata
Title
Transient Myeloproliferative Disorder and GATA1 Mutation in Neonates With and Without Down Syndrome
Authors
Ming-Horng Tsai
Jia-Woei Hou
Chao-Ping Yang
Pong-Hong Yang
Shih-Ming Chu
Jen-Fu Hsu
Ming-Chou Chiang
Hsuan-Rong Huang
Publication date
01-07-2011
Publisher
Springer-Verlag
Published in
Indian Journal of Pediatrics / Issue 7/2011
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-010-0312-x

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