title: Transient myeloproliferative disorder and GATA1 mutation in neonates with and without Down syndrome.
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.
authors.affiliation: Division of Pediatric Hematology/Oncology, Department of Pediatrics, Chang Gung Memorial Hospital, 5, Fu-Shing St, Kwei-Shan, Taoyuan 333, Taiwan.
authors.forename: Ming-Horng
authors.initials: MH
authors.lastname: Tsai
authors.forename: Jia-Woei
authors.initials: JW
authors.lastname: Hou
authors.forename: Chao-Ping
authors.initials: CP
authors.lastname: Yang
authors.forename: Pong-Hong
authors.initials: PH
authors.lastname: Yang
authors.forename: Shih-Ming
authors.initials: SM
authors.lastname: Chu
authors.forename: Jen-Fu
authors.initials: JF
authors.lastname: Hsu
authors.forename: Ming-Chou
authors.initials: MC
authors.lastname: Chiang
authors.forename: Hsuan-Rong
authors.initials: HR
authors.lastname: Huang
mesh_terms: D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007947:Leukemia, Megakaryoblastic, Acute / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009196:Myeloproliferative Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009365:Neoplasm Regression, Spontaneous; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011446:Prospective Studies
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human