Cancer-Type Somatic Mutations in Saccular Cerebral Aneurysms

Abstract

Objective: To evaluate whether somatic mutations have role in saccular intracranial aneurysm pathogenesis Approach and Results: We performed whole exome sequencing of DNA derived from 20 saccular cerebral aneurysms followed by somatic variant calling. Eleven (55%) of the 20 patients had detectable nonsynonymous somatic mutations and in total, 48 mutations were detected in the aneurysm samples. The mutations were highly enriched in cancer-related genes and 37 were predictably deleterious. A p.Tyr562Asp somatic mutation was detected in the PDGFRB gene; somatic mutations at the same codon have been reported in fusiform cerebral aneurysms. Conclusions: These results widen the concept on the role of somatic mutations in cerebral aneurysms, indicating their possible role in the more common saccular aneurysm, similarly to the rarer fusiform aneurysm.