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一名16岁男孩患有7q11.22缺失的低级别星形细胞瘤。

A low-grade astrocytoma in a sixteen-year-old boy with a 7q11.22 deletion.

作者信息

van Kampen Francoise S, Doornbos Marianne E, van Rijn Monique A, den Bever Yolande

机构信息

Department of Paediatrics Albert Schweitzer Hospital Dordrecht The Netherlands.

Department of Neurology Albert Schweitzer Hospital Dordrecht The Netherlands.

出版信息

Clin Case Rep. 2017 Dec 22;6(2):274-277. doi: 10.1002/ccr3.1312. eCollection 2018 Feb.

DOI:10.1002/ccr3.1312
PMID:29445462
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5799647/
Abstract

We report a patient with developmental delay due to germline AUTS2 mutation who developed a low-grade astrocytoma. While the contribution of this mutation to the pathogenesis of the tumor is not known at this time, a role of AUTS2 in deregulation of PRC1 can be a part in tumorigenesis of a brain tumor.

摘要

我们报告了一名因生殖系AUTS2突变导致发育迟缓的患者，该患者患了低级别星形细胞瘤。虽然目前尚不清楚这种突变对肿瘤发病机制的作用，但AUTS2在PRC1失调中的作用可能是脑肿瘤发生的一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e642/5799647/1a67f3e42cc8/CCR3-6-274-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e642/5799647/35352fe9a2f6/CCR3-6-274-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e642/5799647/1a67f3e42cc8/CCR3-6-274-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e642/5799647/35352fe9a2f6/CCR3-6-274-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e642/5799647/1a67f3e42cc8/CCR3-6-274-g002.jpg

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Oncol Lett. 2017 Apr;13(4):2583-2590. doi: 10.3892/ol.2017.5753. Epub 2017 Feb 20.
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Suppressing P16 and P14 pathways overcomes apoptosis in individualized human embryonic stem cells.抑制P16和P14信号通路可克服个体化人类胚胎干细胞中的细胞凋亡。
FASEB J. 2017 Mar;31(3):1130-1140. doi: 10.1096/fj.201600782R. Epub 2016 Dec 13.
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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
对13例AUTS2综合征患者的详细临床分析进一步描绘了表型谱，并突出了行为表型。
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Pediatric cerebellar astrocytoma: a review.小儿小脑星形细胞瘤：综述
Childs Nerv Syst. 2015 Oct;31(10):1677-85. doi: 10.1007/s00381-015-2719-1. Epub 2015 Sep 9.
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Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis.AUTS2对细胞骨架的调控在神经元迁移和神经突发生中的作用
Cell Rep. 2014 Dec 24;9(6):2166-79. doi: 10.1016/j.celrep.2014.11.045. Epub 2014 Dec 18.
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