Analysis of clinical effect and influencing factors of interventional sclero-therapy for venous malformation in children

doi:10.3877/cma.j.issn.2095-5782.2021.04.012

Abstract

Abstract:

Objective

To study the correlation between Tie2 mutation and venous malformations in children, and to explore the pathogenesis of venous malformations.

Methods

The peripheral venous blood of 56 children with sporadic venous malformations was collected and compared with the normal blood of healthy people. DNA was extracted and exon 13 of Tie 2 was sequenced by direct sequencing.

Results

The mutation rate of exon 13 of Tie2 gene was 3.3% (1/30) in 30 normal blood samples and 57.1% (32/56) in VM patients. There were significant statistical differences in the mutation rate between the two groups, while there were no statistical differences in gender, age of first onset and lesion site within the case group.

Conclusions

The mutation rate of exon 13 of Tie2 was significantly increased in venous malformation (57.1%). Molecular therapy targeting exon 13 mutations of Tie2 provides a new idea for refractory VMs that are insensitive to standard therapy.

Key words: Venous Malformation, Gene sequencing, Interventional sclera-therapy

Wenchan Xu, Zhenyin Liu, Qinyu Chen, Jing Zhang. Analysis of clinical effect and influencing factors of interventional sclero-therapy for venous malformation in children[J]. Chinese Journal of Interventional Radiology(Electronic Edition), 2021, 09(04): 415-418.

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URL: https://zhjrfsxdzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-5782.2021.04.012

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Figures/Tables 5

References 19

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总体积	组成	加入量
10 μL	10×buffer	2 μL
	4种dNTP混合物	2 μL（2.5 pmol/μL）
	引物1	0.4 μL（10 pmol/μL）
	引物2	0.4 μL（10 pmol/μL）
	模板DNA	1 μL（约10 ng）
	TaqDNA聚合酶	0.2 μL
	加ddH₂O（双蒸水）	14 μL

总体积	组成	加入量
10 μL	10×buffer	2 μL
	4种dNTP混合物	2 μL（2.5 pmol/μL）
	引物1	0.4 μL（10 pmol/μL）
	引物2	0.4 μL（10 pmol/μL）
	模板DNA	1 μL（约10 ng）
	TaqDNA聚合酶	0.2 μL
	加ddH₂O（双蒸水）	14 μL

	性别（例）		平均年龄（岁）	首发年龄（例）		位置（例）
	男	女	平均年龄（岁）	出生时	出生后	四肢	面部及颈部	臀部及会阴	背部及腹壁	全身多发	舌、咽部
VMs	28	28	5.8	17	39	25	14	6	5	4	2
Tie2突变	15	17	-	9	23	16	7	5	3	1	0

	性别（例）		平均年龄（岁）	首发年龄（例）		位置（例）
	男	女	平均年龄（岁）	出生时	出生后	四肢	面部及颈部	臀部及会阴	背部及腹壁	全身多发	舌、咽部
VMs	28	28	5.8	17	39	25	14	6	5	4	2
Tie2突变	15	17	-	9	23	16	7	5	3	1	0

	χ²值	P值
性别（男，女）	0.292	0.589 > 0.05
首发年龄（出生时，出生后）	0.514	0.47 > 0.05
部位^a	4.430	0.219 > 0.05

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