Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature.
Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature.
复制标题
唐氏综合症同卵双胞胎中不同的 GATA1 点突变和三胞胎妊娠导致的短暂性骨髓生成异常：病例报告和文献综述。
DOI：
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发表时间：
2016
影响因子：
3.5
通讯作者：
Xiayuan Liang
中科院分区：
文献类型：
--
作者：
Liqun Yin;M. Lovell;Michael L Wilson;Q. Wei;Xiayuan Liang
目标
唐氏综合征(DS)相关的一过性异常骨髓生成()或急性巨核细胞白血病(AMKL)在同卵双生子中非常罕见，目前还没有很好的特征。
方法
我们描述一例妊娠34周的同卵双胞胎，同时伴有的三胞胎妊娠。我们回顾了以前报道的同卵双生子和DS-AMKL病例，以与我们的病例进行比较。本文还综述了21三体、GATA1和其他基因突变共同作用于发展为DS-AMKL的序贯多步过程。
结果
在我们与的双胞胎新生儿中发现了不同的GATA1突变，而文献中报道的所有三个同卵双胞胎中都检测到了完全相同的GATA1突变。
结论
同卵双胞胎中的相同GATA1突变很可能来自双胞胎传播。在我们的双胞胎新生儿中发现了独特的GATA1突变，这为独立的宫内GATA1突变提供了明确的证据，这是在同卵双胞胎中发生的一种与先前报道的病例完全不同的机制。21三体和GATA1突变相互作用产生，但需要额外的基因突变才能转化为DS-AMKL。
OBJECTIVES
Down syndrome (DS)-associated transient abnormal myelopoiesis (TAM) or acute megakaryoblastic leukemia (AMKL) in monozygotic twins is exceedingly rare and has not been well characterized.
METHODS
We describe a unique case of monozygotic twins with simultaneous TAM from a triplet pregnancy at 34 weeks' gestation. Previously reported cases of TAM and DS-AMKL in monozygotic twins have been reviewed to compare with our cases. The current concept of a sequential multistep process in leukemogenesis and disease evolution of TAM into DS-AMKL through the collaboration among trisomy 21, GATA1, and other gene mutations is also reviewed.
RESULTS
Distinct GATA1 mutations are identified in our neonate twins with TAM from a triplet pregnancy, whereas precisely identical GATA1 mutations have been detected in all three monozygotic DS twins reported in the literature.
CONCLUSIONS
Identical GATA1 mutations in cases of monozygotic twins are likely derived from twin-twin transmission. Distinct GATA1 mutations identified in our neonate twins with TAM provide unequivocal evidence of independent intra-utero GATA1 mutations, a completely different mechanism of development of TAM in monozygotic twins from previously reported cases. Interaction of trisomy 21 and GATA1 mutation produces TAM, but additional gene mutations are required for TAM to transform into DS-AMKL.
影响因子：
20.3
作者：
Ge, YB;Dombkowski, AA;Taub, JW
通讯作者：
Taub, JW
影响因子：
20.3
作者：
Klusmann, Jan-Henning;Creutzig, Ursula;Reinhardt, Dirk
通讯作者：
Reinhardt, Dirk