Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder.
Transient myeloid disorder is a unique self-regressing neoplasia specific to Down's syndrome. The transcription factor GATA1 is needed for normal growth and maturation of erythroid cells and megakaryocytes. Mutations in GATA1 have been reported in acute megakaryoblastic leukaemia in Down's syndrome. We aimed to investigate changes in GATA1 in patients with Down's syndrome and either transient myeloid disorder (n=10) or acute megakaryoblastic leukaemia (n=6). We recorded mutations eliminating exon 2 from GATA1 in all patients with transient myeloid disorder (age 0-24 days) and in all with acute megakaryoblastic leukaemia (age 14-38 months). The range of mutations did not differ between patients with each disorder. Patients with transient myeloid disorder with mutations in GATA1 can regress spontaneously to complete remission, and mutations do not necessarily predict later acute megakaryoblastic leukaemia.
Department of Haematology, Saint Bartholomew's and The Royal London Hospital, Queen Mary's School of Medicine, University of London, Medical College Building, Turner Street, E1 2AD, London, UK.
Jürgen
J
Groet
Suzanne
S
McElwaine
Monica
M
Spinelli
Andrea
A
Rinaldi
Ingo
I
Burtscher
Claire
C
Mulligan
Afua
A
Mensah
Simona
S
Cavani
Franca
F
Dagna-Bricarelli
Giuseppe
G
Basso
Finbarr E
FE
Cotter
Dean
D
Nizetic
D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D050981:Erythroid-Specific DNA-Binding Factors; D005091:Exons / Q000235:genetics; D005260:Female; D050982:GATA1 Transcription Factor; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D050981:Erythroid-Specific DNA-Binding Factors; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D014157:Transcription Factors