Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21
Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21
复制标题
表型正常的多克隆 21 三体新生儿出现短暂性骨髓生成异常
DOI：
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发表时间：
2014
影响因子：
2.1
通讯作者：
A. Pession
中科院分区：
文献类型：
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作者：
Francesco Corazza;A. Astolfi;V. Libri;M. Franzoni;S. Serravalle;R. Alessandroni;F. Melchionda;A. Pession
我们报告一例罕见的一过性异常骨髓生成()的表型正常的新生儿。可触摸到的肝肿大促使深入的实验室检查，发现存在严重的高白细胞，外周血涂片中存在原始细胞。虽然没有唐氏综合症的迹象，但我们怀疑。进一步的分析发现了GATA1的突变，同时还发现了两个不同的三体细胞系，通过核型分析发现；一个只有21三体，另一个只有21和22三体，这两个三体存在于一个亚群的外周血细胞中。这些基因异常在6个月大的时候就消失了。两个不同的三体克隆的存在可能是在该患者中多克隆性质的证据。
We report a rare case of transient abnormal myelopoiesis (TAM) in a phenotypically normal neonate. The presence of a palpable hepatomegaly prompted in-depth laboratory tests, which revealed the presence of severe hyperleukocytosis, with blast cells present in a peripheral blood smear. Although no signs of Down syndrome were present, we suspected TAM. Further analysis identified a mutation in GATA1 along with the unique finding of two different trisomic cell lines, detected upon karyotyping; one with trisomy 21 only, and one with trisomies 21 and 22, which was present in a subpopulation of peripheral blood cells. These genetic abnormalities disappeared by the age of 6 months. The presence of two different trisomic clones may be an evidence of the polyclonal nature of TAM in this patient.
影响因子：
20.3
作者：
Klusmann, Jan-Henning;Creutzig, Ursula;Reinhardt, Dirk
通讯作者：
Reinhardt, Dirk