Treatment of Early-stage Extracranial Arteriovenous Malformations with Intralesional Interstitial Bleomycin Injection: A Pilot Study

Jin, Yunbo; Zou, Yun; Chen, Hua; Chen, Hui; Yang, Xi; Ma, Gang; Chang, Lei; Qiu, Yajing; Lyu, Dongze; Wang, Tianyou; Chang, Shih-Jen; Qiao, Congzhen; Luo, Chunfen; Tremp, Mathias; Lin, Xiaoxi

doi:10.1148/radiol.2017162076

Cited by 44 publications

(27 citation statements)

References 37 publications

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“…In this case, according to the results of MRI, the patient had the potential for AVM invasion. Precautions such as regular clinical follow-up and bleomycin injection should be taken to prevent AVM formation [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

Cai¹,

Liu²,

Chen³

et al. 2018

Hereditas

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Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RASA-1 gene causing loss of function (LOF) of the RasGAP domain. To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia. This report may extend our understanding and support further studies of CM-AVM in East Asia.Electronic supplementary materialThe online version of this article (10.1186/s41065-018-0062-8) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

Cai¹,

Liu²,

Chen³

et al. 2018

Hereditas

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“…Molecular analysis provides new management strategies beyond precautions preventing AVM formation and complication with bleomycin injection 18 . Kawasaki et al demonstrated that loss-of-functional mutation in EPHB4 or RASA-1 result in downstream activating of mTORC1, overgrowth of vascular and the development of CM-AVM.…”

Section: Discussionmentioning

confidence: 99%

Novel EPHB4 mutation in capillary malformation-arteriovenous malformation syndrome 2 (CM-AVM2): the first genetic study in Asians

Sun

Zeng

et al. 2020

Preprint

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Capillary malformation-arteriovenous malformation syndrome (CM-AVM), a rare vascular malformation, is autosomal dominant and characterized by hereditary capillary malformations (CMs) and potential fast-flow vascular malformation underlying CMs in around one-third of patients, affecting approximately 0.3-0.5% of newborns. CM-AVM was first discovered in association with germline RASA-1 mutation and termed CM-AVM type 1 in 2003. Later, germline EPHB4 mutations were detected in RASA-1-negative CM-AVMs, also known as CM-AVM type 2. Although there have been recent genetic studies confirming the molecular basis of CM-AVM, few have focused on Asian populations, leading to the lack of comprehensive molecular profiling. In this study, we report a female patient diagnosed as CM-AVM2 with a novel stop-gain mutation causing loss of function of the EPHB4 gene. As far as we know, this is the first genetic report of germline EPHB4 loss-of-functional mutation related CM-AVM 2 in Asians, extending our understanding of CM-AVM.

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“…Recently, interstitial bleomycin injection has been suggested as a means of down-regulating symptomatic AVMs (Jin et al 2018), though little is yet understood about the mechanism of action of bleomycin in this setting.…”

Section: Arteriovenous Malformationsmentioning

confidence: 99%

Vascular anomalies: special considerations in children

Gibson

Barnacle

2020

CVIR Endovasc

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The diagnosis and treatment of vascular anomalies are a large part of the caseload for paediatric interventional radiologists. Although many of the principles of sclerotherapy and embolisation are the same in adult and paediatric practice, there are some key differences in the approach for children, including some longer term thinking about managing these chronic diseases and their impact on a growing child. Vascular tumours are not often seen in adult IR practice and the rarest can be life threatening; knowledge of the commonest types and the role IR can play in their management can be instrumental in ensuring that children get appropriate treatment in a timely manner. Vascular anomalies also encompass some conditions associated with complex overgrowth, a subject that often causes confusion and uncertainty for interventional radiologists. This paper presents a simplified and practical approach to this spectrum of disease.

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Treatment of Early-stage Extracranial Arteriovenous Malformations with Intralesional Interstitial Bleomycin Injection: A Pilot Study

Cited by 44 publications

References 37 publications

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

Novel EPHB4 mutation in capillary malformation-arteriovenous malformation syndrome 2 (CM-AVM2): the first genetic study in Asians

Vascular anomalies: special considerations in children

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