Cancer-type somatic mutations in saccular cerebral aneurysms

Area of Science:

• Genetics
• Neurology
• Oncology

Background:

• Intracranial aneurysms (IAs) are a significant cause of subarachnoid hemorrhage (SAH), leading to high morbidity and mortality.
• The underlying mechanisms of IA development are not fully understood.

Purpose of the Study:

• To investigate the role of somatic mutations in the development of saccular cerebral aneurysms.
• To identify specific genetic alterations associated with IA formation.

Main Methods:

• Whole exome sequencing of DNA from 20 saccular cerebral aneurysms.
• Somatic variant calling to detect mutations within aneurysm samples.

Main Results:

• Somatic mutations were detected in 55% of patients, with 48 mutations found in total.
• Mutations were enriched in cancer-related genes, with 77% predicted to be deleterious.
• A specific PDGFRB mutation (p.Tyr562Asp) was identified, previously linked to fusiform aneurysms.

Conclusions:

• Somatic mutations may play a role in the pathogenesis of common saccular cerebral aneurysms.
• These findings expand the understanding of somatic mutations in various types of intracranial aneurysms.