Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

被引:127
作者
Groet, J
McElwaine, S
Spinelli, M
Rinaldi, A
Burtscher, I
Mulligan, C
Mensah, A
Cavani, S
Dagna-Bricarelli, F
Basso, G
Cotter, FE
Nizetic, D
机构
[1] Univ London, Queen Marys Sch Med, St Bartholomews & Royal London Hosp, Dept Haematol, London E1 2AD, England
[2] Univ Padua, Fac Med, Dept Pediat, Italian Natl Assoc Pediat Haematooncol, Padua, Italy
[3] Galliera Hosp, Inst Human Genet, Genoa, Italy
关键词
D O I
10.1016/S0140-6736(03)13266-7
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页码:1617 / 1620
页数:4
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