Centre for Paediatrics, Blizard Institute, Barts and The London Medical School, Queen Mary University of London, London, UK.
Br J Haematol. 2012 Apr;157(2):197-200. doi: 10.1111/j.1365-2141.2011.08985.x. Epub 2012 Jan 5.
Children with Down syndrome have a 20- to 50-fold increased risk of acute lymphocytic or myeloid leukaemia. Whole or partial gains of chromosome 21 have been described in multiple childhood leukaemias, and have recently been reported as a likely primary event in B-precursor-acute lymphoblastic leukaemia. It is unclear which amplified gene(s) on chromosome 21 play a key role in leukaemia progression. We describe a minimal amplified segment within the so-called 'Down syndrome critical region' shared between two cases of AML-M0; a Down syndrome, and a constitutionally normal individual. Interestingly, the amplified region does not include the oncogenes RUNX1, ETS2 and ERG.
唐氏综合征患儿发生急性淋巴细胞白血病或髓系白血病的风险增加 20-50 倍。在多种儿童白血病中已描述了整条或部分 21 号染色体获得，并且最近报道称其可能是 B 前体-急性淋巴细胞白血病的一个早期事件。目前尚不清楚 21 号染色体上的哪些扩增基因在白血病进展中起关键作用。我们描述了两例 AML-M0（唐氏综合征和一个染色体正常的个体）之间所谓的唐氏综合征关键区的最小扩增片段。有趣的是，扩增区域不包括癌基因 RUNX1、ETS2 和 ERG。
