医学
PDGFRB公司
发病机制
动脉瘤
体细胞
靶向治疗
基因
癌症研究
生物信息学
病理
癌症
放射科
内科学
遗传学
生物
作者
Malia McAvoy,Buddy D. Ratner,Manuel Ferreira,Michael R. Levitt
标识
DOI:10.1136/jnis-2024-021843
摘要
Treatment of intracranial aneurysms is currently limited to invasive surgical and endovascular modalities, and some aneurysms are not treatable with these methods. Identification and targeting of specific molecular pathways involved in the pathogenesis of aneurysms may improve outcomes. Low frequency somatic variants found in cancer related genes have been linked to intracranial aneurysm development. In particular, mutations in the PDGFRB gene lead to constitutively activated ERK and nuclear factor κB signaling pathways, which can be targeted with tyrosine kinase inhibitors. In this review, we describe how low frequency somatic variants in oncogenic and other genes affect the pathogenesis of aneurysm development, with a focus on gene therapy applications, such as endovascular in situ delivery of chemotherapeutics.
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