Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.

ABSTRACT:

Background

Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), CCM2, or PDCD10 (CCM3), the genetic cause of sporadic CCMs, representing 80% of cases, remains incompletely understood.

Methods

We developed two mouse models harboring mutations identified in human meningiomas with the use of the prostaglandin D2 synthase (PGDS) promoter. We performed targeted DNA sequencing of surgically resected CCMs from patients and confirmed our findings by droplet digital polymerase-chain-reaction analysis.

Results

We found that in mice expressing one of two common genetic drivers of meningioma

SUBMITTER: Peyre M 

PROVIDER: S-EPMC8606022 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature