1. Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations
- Author
-
Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, and Tao Hong
- Subjects
MAP3K3 ,PIK3CA ,Vascular malformations ,Hemorrhage ,Epilepsy ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Cerebral cavernous malformations (CCMs) are hemorrhagic vascular disorders with varied clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA mutations or through inherited germline mutations of CCM genes. This study aimed to clarify the clinical, genetic, and pathological features of CCMs using a multicenter cohort across three Chinese centers. We analyzed 290 surgical specimens from symptomatic CCM patients, utilizing whole-exome sequencing, droplet digital PCR, and targeted panel sequencing, alongside immunohistology to examine genotypic and phenotypic differences. Among 290 cases, 201 had somatic MAP3K3, PIK3CA, or germline CCM mutations, each associated with distinct clinical parameters: hemorrhage risk (P
- Published
- 2025
- Full Text
- View/download PDF