Prevalence and anatomical characteristics of developmental venous anomalies: an MRI study

Brzegowy, Karolina; Kowalska, Natalia; Solewski, Bernard; Musiał, Agata; Kasprzycki, Tomasz; Herman‐Sucharska, Izabela; Walocha, Jerzy

doi:10.1007/s00234-020-02612-8

Cited by 8 publications

(2 citation statements)

References 29 publications

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“…CCMs (or cavernous angiomas) are clusters of tightly packed, abnormal cerebral capillaries with thin walls, while DVAs (or venous angiomas) are irregular arrangements of cerebral veins, and DVAs are the most common form of congenital cerebral venous malformations (VeMs) without any clinically symptomatic event [22]. It has been well defined that most fCCM cases are caused by mutations in one of the three CCM genes, while the majority of sCCM cases are still unknown, despite that CCM gene mutations have been found in some sCCM [23,24].…”

Section: Introductionmentioning

confidence: 99%

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Zhang

Croft

2023

JPM

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Cerebral cavernous malformations (CCMs) are abnormally dilated intracranial capillaries that form cerebrovascular lesions with a high risk of hemorrhagic stroke. Recently, several somatic “activating” gain-of-function (GOF) point mutations in PIK3CA (phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit p110α) were discovered as a dominant mutation in the lesions of sporadic forms of cerebral cavernous malformation (sCCM), raising the possibility that CCMs, like other types of vascular malformations, fall in the PIK3CA-related overgrowth spectrum (PROS). However, this possibility has been challenged with different interpretations. In this review, we will continue our efforts to expound the phenomenon of the coexistence of gain-of-function (GOF) point mutations in the PIK3CA gene and loss-of-function (LOF) mutations in CCM genes in the CCM lesions of sCCM and try to delineate the relationship between mutagenic events with CCM lesions in a temporospatial manner. Since GOF PIK3CA point mutations have been well studied in reproductive cancers, especially breast cancer as a driver oncogene, we will perform a comparative meta-analysis for GOF PIK3CA point mutations in an attempt to demonstrate the genetic similarities shared by both cancers and vascular anomalies.

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Section: Introductionmentioning

confidence: 99%

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Zhang

Croft

2023

JPM

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“…DVAs are the most common cerebrovascular malformations, accounting for up to 60% of the total and being present in approximately 3% of the general population [ 18 , 19 ]. They are congenital malformations that are incidentally or routinely detected by both contrast-enhanced computed tomography (CT) and MRI scans of the brain, and they usually consist of several radially arranged veins that drain centrally into a single dilatated venous trunk, assuming the classical radiological appearance of a caput medusae sign, also known as a palm tree sign [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

Distant Recurrence of a Cerebral Cavernous Malformation in the Vicinity of a Developmental Venous Anomaly: Case Report of Local Oxy-Inflammatory Events

Bianconi

Salvati

Perrelli

et al. 2022

IJMS

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Background: Cerebral cavernous malformations (CCMs) are a major type of cerebrovascular lesions of proven genetic origin that occur in either sporadic (sCCM) or familial (fCCM) forms, the latter being inherited as an autosomal dominant condition linked to loss-of-function mutations in three known CCM genes. In contrast to fCCMs, sCCMs are rarely linked to mutations in CCM genes and are instead commonly and peculiarly associated with developmental venous anomalies (DVAs), suggesting distinct origins and common pathogenic mechanisms. Case report: A hemorrhagic sCCM in the right frontal lobe of the brain was surgically excised from a symptomatic 3 year old patient, preserving intact and pervious the associated DVA. MRI follow-up examination performed periodically up to 15 years after neurosurgery intervention demonstrated complete removal of the CCM lesion and no residual or relapse signs. However, 18 years after surgery, the patient experienced acute episodes of paresthesia due to a distant recurrence of a new hemorrhagic CCM lesion located within the same area as the previous one. A new surgical intervention was, therefore, necessary, which was again limited to the CCM without affecting the pre-existing DVA. Subsequent follow-up examination by contrast-enhanced MRI evidenced a persistent pattern of signal-intensity abnormalities in the bed of the DVA, including hyperintense gliotic areas, suggesting chronic inflammatory conditions. Conclusions: This case report highlights the possibility of long-term distant recurrence of hemorrhagic sCCMs associated with a DVA, suggesting that such recurrence is secondary to focal sterile inflammatory conditions generated by the DVA.

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Editorial for “Five‐Year Serial Brain MRI Analysis of Military Members Exposed to Chronic Sub‐Concussive Overpressures”

Orsi

2024

Magnetic Resonance Imaging

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Prevalence and anatomical characteristics of developmental venous anomalies: an MRI study

Cited by 8 publications

References 29 publications

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Distant Recurrence of a Cerebral Cavernous Malformation in the Vicinity of a Developmental Venous Anomaly: Case Report of Local Oxy-Inflammatory Events

Editorial for “Five‐Year Serial Brain MRI Analysis of Military Members Exposed to Chronic Sub‐Concussive Overpressures”

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