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一名患有血小板衍生生长因子受体β基因突变体细胞镶嵌现象的患者出现真性桡动脉动脉瘤。

True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene.

作者信息

Shalhub Sherene, Hysa Lisa, Byers Peter H, Meissner Mark H, Ferreira Manuel

机构信息

Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, Wash.

Department of Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, Wash.

出版信息

J Vasc Surg Cases Innov Tech. 2021 Feb 26;7(3):567-571. doi: 10.1016/j.jvscit.2021.02.001. eCollection 2021 Sep.

DOI:10.1016/j.jvscit.2021.02.001
PMID:34504985
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8411016/
Abstract

We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and overgrowth). The RAA was repaired with an interposition great saphenous vein bypass graft. Analysis of the intracranial artery aneurysm and affected skin demonstrated a somatic mutation in the platelet-derived growth factor receptor-β gene. Mosaicism was present in the RAA but not in the great saphenous vein. Somatic mosaicism should be considered as a possible etiology for peripheral aneurysms in patients for whom standard genetic test results are unrevealing.

摘要

我们报告了一例27岁男性的右桡动脉动脉瘤（RAA）病例，该患者同时患有脑动脉瘤和冠状动脉瘤，并具有帕克斯-韦伯综合征的特征（葡萄酒色斑、右上肢体动静脉畸形和过度生长）。采用大隐静脉间置旁路移植术修复了RAA。对颅内动脉瘤和受累皮肤的分析显示血小板衍生生长因子受体-β基因存在体细胞突变。RAA中存在镶嵌现象，但大隐静脉中不存在。对于标准基因检测结果无异常的患者，应考虑体细胞镶嵌现象可能是外周动脉瘤的病因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/23e1ffcf94d7/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/c7b8270b3b69/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/c6870116ab69/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/36f5df953a4c/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/19e6c39254d4/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/23e1ffcf94d7/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/c7b8270b3b69/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/c6870116ab69/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/36f5df953a4c/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/19e6c39254d4/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6204/8411016/23e1ffcf94d7/gr5.jpg

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2
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3
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4
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