Study on the pathogenic progression from transient myeloproliferative disorder to acute megakaryoblasticm leukemia in Down syndrome using DNA microarrays

大约10%的唐氏综合征新生儿发展为一过性骨髓增殖性疾病(TMD)，这种疾病是21三体或21三体嵌合体婴儿所特有的。在大多数病例中，TMD原始细胞在生命的前3个月内自发消失。尽管TMD得到了解决，但这些新生儿中有20%-30%将在3年内发展为急性巨核细胞白血病(AMKL)。在这项研究中，用DNA芯片检测了TMD和AMKL患者的样本，以研究从TMD到AMKL的致病过程。由于我们只能从每个患者组分别获得3个高质量的mRNA，所以我们没有发现两组之间的差异基因表达模式。为了利用DNA微阵列从DS患者的TMD中识别导致AMKL发生的基因，我们必须在未来增加可用的病例数量。还需要进一步的研究来确定DS患者TMD发生AMKL的相关基因。

Approximately 10% of newborns with Down syndrome develop transient myeloproliferative disorder (TMD), a disorder that is unique to infants with constitutional trisomy 21 or trisomy 21 mosaicism. TMD blasts disappear spontaneously within the first 3 months of life in the majority of cases. Despite the resolution of TMD, 20-30% of these newborns will go on to develop acute megakaryoblastic leukemia (AMKL) within the 3 years. In this study, samples from both TMD and AMKL patients were examined using DNA microarrays to study the pathogenic progression from TMD to AMKL. Because we were able to obtain only three high-quality mRNA from each patient group respectively, we could not find different gene expression pattern between two groups. In order to identify genes contributing to develop AMKL from TMD in DS patients using DNA microarrays, we have to increase available number of cases in future. Further studies are needed to identify genes contributing to develop AMKL from TMD in DS patients.