Cerebral vascular malformations: pathogenesis and therapy
Abstract Cerebral vascular malformations (CVMs), particularly cerebral cavernous malformations and cerebral arteriovenous malformations, pose significant neurological challenges due to their complex etiologies and clinical implications. Traditionally viewed as congenital conditions with structural a...
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| Format: | Article |
| Language: | English |
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Wiley
2024-12-01
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| Series: | MedComm |
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| Online Access: | https://doi.org/10.1002/mco2.70027 |
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| author | Qiheng He Ran Huo Yingfan Sun Zhiyao Zheng Hongyuan Xu Shaozhi Zhao Yang Ni Qifeng Yu Yuming Jiao Wenqian Zhang Jizong Zhao Yong Cao |
| author_facet | Qiheng He Ran Huo Yingfan Sun Zhiyao Zheng Hongyuan Xu Shaozhi Zhao Yang Ni Qifeng Yu Yuming Jiao Wenqian Zhang Jizong Zhao Yong Cao |
| author_sort | Qiheng He |
| collection | DOAJ |
| description | Abstract Cerebral vascular malformations (CVMs), particularly cerebral cavernous malformations and cerebral arteriovenous malformations, pose significant neurological challenges due to their complex etiologies and clinical implications. Traditionally viewed as congenital conditions with structural abnormalities, CVMs have been treated primarily through resection, embolization, and stereotactic radiosurgery. While these approaches offer some efficacy, they often pose risks to neurological integrity due to their invasive nature. Advances in next‐generation sequencing, particularly high‐depth whole‐exome sequencing and bioinformatics, have facilitated the identification of gene variants from neurosurgically resected CVMs samples. These advancements have deepened our understanding of CVM pathogenesis. Somatic mutations in key mechanistic pathways have been identified as causative factors, leading to a paradigm shift in CVM treatment. Additionally, recent progress in noninvasive and minimally invasive techniques, including gene imaging genomics, liquid biopsy, or endovascular biopsies (endovascular sampling of blood vessel lumens), has enabled the identification of gene variants associated with CVMs. These methods, in conjunction with clinical data, offer potential for early detection, dynamic monitoring, and targeted therapies that could be used as monotherapy or adjuncts to surgery. This review highlights advancements in CVM pathogenesis and precision therapies, outlining the future potential of precision medicine in CVM management. |
| format | Article |
| id | doaj-art-37240d31f0ca4c53bd31b1f591965ece |
| institution | DOAJ |
| issn | 2688-2663 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | MedComm |
| spelling | doaj-art-37240d31f0ca4c53bd31b1f591965ece2025-08-20T02:46:51ZengWileyMedComm2688-26632024-12-01512n/an/a10.1002/mco2.70027Cerebral vascular malformations: pathogenesis and therapyQiheng He0Ran Huo1Yingfan Sun2Zhiyao Zheng3Hongyuan Xu4Shaozhi Zhao5Yang Ni6Qifeng Yu7Yuming Jiao8Wenqian Zhang9Jizong Zhao10Yong Cao11Department of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaDepartment of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing ChinaAbstract Cerebral vascular malformations (CVMs), particularly cerebral cavernous malformations and cerebral arteriovenous malformations, pose significant neurological challenges due to their complex etiologies and clinical implications. Traditionally viewed as congenital conditions with structural abnormalities, CVMs have been treated primarily through resection, embolization, and stereotactic radiosurgery. While these approaches offer some efficacy, they often pose risks to neurological integrity due to their invasive nature. Advances in next‐generation sequencing, particularly high‐depth whole‐exome sequencing and bioinformatics, have facilitated the identification of gene variants from neurosurgically resected CVMs samples. These advancements have deepened our understanding of CVM pathogenesis. Somatic mutations in key mechanistic pathways have been identified as causative factors, leading to a paradigm shift in CVM treatment. Additionally, recent progress in noninvasive and minimally invasive techniques, including gene imaging genomics, liquid biopsy, or endovascular biopsies (endovascular sampling of blood vessel lumens), has enabled the identification of gene variants associated with CVMs. These methods, in conjunction with clinical data, offer potential for early detection, dynamic monitoring, and targeted therapies that could be used as monotherapy or adjuncts to surgery. This review highlights advancements in CVM pathogenesis and precision therapies, outlining the future potential of precision medicine in CVM management.https://doi.org/10.1002/mco2.70027arteriovenous malformationsbiopsycavernous malformationscerebral vascular malformationmicroenvironmentsomatic mutation |
| spellingShingle | Qiheng He Ran Huo Yingfan Sun Zhiyao Zheng Hongyuan Xu Shaozhi Zhao Yang Ni Qifeng Yu Yuming Jiao Wenqian Zhang Jizong Zhao Yong Cao Cerebral vascular malformations: pathogenesis and therapy MedComm arteriovenous malformations biopsy cavernous malformations cerebral vascular malformation microenvironment somatic mutation |
| title | Cerebral vascular malformations: pathogenesis and therapy |
| title_full | Cerebral vascular malformations: pathogenesis and therapy |
| title_fullStr | Cerebral vascular malformations: pathogenesis and therapy |
| title_full_unstemmed | Cerebral vascular malformations: pathogenesis and therapy |
| title_short | Cerebral vascular malformations: pathogenesis and therapy |
| title_sort | cerebral vascular malformations pathogenesis and therapy |
| topic | arteriovenous malformations biopsy cavernous malformations cerebral vascular malformation microenvironment somatic mutation |
| url | https://doi.org/10.1002/mco2.70027 |
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