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儿童骨髓增殖性肿瘤的分子特征。

The molecular landscape of childhood myeloproliferative neoplasms.

机构信息

Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland.

Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland.

出版信息

Leuk Res. 2014 Aug;38(8):997-8. doi: 10.1016/j.leukres.2014.06.003. Epub 2014 Jun 12.

DOI:10.1016/j.leukres.2014.06.003
PMID:24986380
Abstract

The classical myeloproliferative neoplasms (MPN) are comparatively uncommon in children and display a degree of mutational naivety if considering the high frequency of known MPN driver events observed in the corresponding adult diseases. Whole exome sequencing has unravelled much of the underlying molecular complexity of MPN in adult patients yet less is known of the pathogenetic mechanisms when these diseases occur in childhood. It is proposed that such methodological approaches will contribute significant insights into the molecular landscape of childhood MPN that may in turn impact on understanding the pathophysiology of disease in their adult counterparts.

摘要

经典的骨髓增殖性肿瘤(MPN)在儿童中较为罕见,如果考虑到在相应的成人疾病中观察到的已知 MPN 驱动事件的高频,那么其具有一定程度的突变幼稚性。全外显子组测序揭示了成年患者 MPN 中许多潜在的分子复杂性,但当这些疾病发生在儿童时,其发病机制知之甚少。有人提出,这种方法学方法将为儿童 MPN 的分子图谱提供重要的见解,这反过来又可能影响对其成人对应物疾病病理生理学的理解。

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1
The molecular landscape of childhood myeloproliferative neoplasms.儿童骨髓增殖性肿瘤的分子特征。
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引用本文的文献

1
[New understanding on the pathogenic mechanism of myelodysplastic syndromes in adults and children].[成人及儿童骨髓增生异常综合征发病机制的新认识]
Zhonghua Xue Ye Xue Za Zhi. 2017 Sep 14;38(9):809-812. doi: 10.3760/cma.j.issn.0253-2727.2017.09.018.
2
Genetic analysis of five children with essential thrombocytosis identified mutations in cancer-associated genes with roles in transcriptional regulation.对五名原发性血小板增多症患儿的基因分析发现,在转录调控中起作用的癌症相关基因发生了突变。
Haematologica. 2016 Jun;101(6):e237-9. doi: 10.3324/haematol.2016.142935. Epub 2016 Mar 18.
3
A point mutation of zebrafish c-cbl gene in the ring finger domain produces a phenotype mimicking human myeloproliferative disease.
斑马鱼c-cbl基因在环指结构域的一个点突变产生了一种模仿人类骨髓增殖性疾病的表型。
Leukemia. 2015 Dec;29(12):2355-65. doi: 10.1038/leu.2015.154. Epub 2015 Jun 24.