Rozen Laurence, Huybrechts Sophie, Dedeken Laurence, Heijmans Catherine, Dessars Barbara, Heimann Pierre, Lambert Frédéric, Noubouossie Denis F, Ferster Alina, Demulder Anne
Laboratory of Hematology and Haemostasis, CHU-Brugmann, Université Libre de Bruxelles (ULB), Place Van Gehuchten 4, 1020, Brussels, Belgium,
Eur J Pediatr. 2014 Dec;173(12):1643-7. doi: 10.1007/s00431-013-2163-8. Epub 2013 Nov 20.
Transient neonatal leukemia occurs almost exclusively in Down syndrome babies. We report here the unusual case of a newborn without Down syndrome who presented neonatal transient leukemia and who achieved spontaneously complete remission. Trisomy 21 and GATA1 mutation were both present in leukemic cells. While close follow-up is advised since true leukemia may develop later, the patient is still in remission for 2.5 years. We performed a literature review of 15 other similar cases.
Our case of transient leukemia without Down syndrome and the literature review highlight the important role of trisomy 21 and GATA1 mutation in the development of transient neonatal leukemia.
暂时性新生儿白血病几乎仅发生于唐氏综合征婴儿。我们在此报告一例非唐氏综合征新生儿患暂时性新生儿白血病并自发完全缓解的罕见病例。白血病细胞中同时存在21三体和GATA1突变。鉴于后期可能发展为真正的白血病，建议密切随访，该患者目前仍处于缓解状态已达2.5年。我们对其他15例类似病例进行了文献综述。
我们的非唐氏综合征暂时性白血病病例及文献综述突出了21三体和GATA1突变在暂时性新生儿白血病发生中的重要作用。
