Transient myeloproliferative disorder and GATA1 mutation in neonates with and without down syndrome

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

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

15 Scopus citations

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.

Original languageEnglish
Pages (from-to)826-832
Number of pages7
JournalIndian Journal of Pediatrics
Volume78
Issue number7
DOIs
StatePublished - 07 2011

Keywords

  • Acute megakaryoblastic leukemia
  • Down syndrome
  • GATA1 mutation
  • Transient myeloproliferative disorder
  • Trisomy 21

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