Cancer-type somatic mutations in saccular cerebral aneurysms

Intracranial aneurysms (IAs) are a major cause of subarachnoidal hemorrhage (SAH) which can have a significant morbidity and mortality. The processes underlying the aneurysm development remains unclear. We performed whole exome sequencing of DNA derived from 20 saccular cerebral aneurysms of 20 patients, 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 77% 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. 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.

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Publication Details

Journal
European Journal of Human Genetics
Published
2024-12-12
DOI
https://doi.org/10.1038/s41431-024-01765-x
Citations
2
Primary Topic
Intracranial Aneurysms: Treatment and Complications
Type
article
Field-Weighted Citation Impact
0.74

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article

Cancer-type somatic mutations in saccular cerebral aneurysms

Miko Valori, Mika Niemelä, Seppo Ylä‐Herttuala, Minna Kaikkonen-Määttä et al.
2 citations
European Journal of Human Genetics
Intracranial Aneurysms: Treatment and Complications
0.74
article

Cancer-type somatic mutations in saccular cerebral aneurysms

Miko Valori, Mika Niemelä, Seppo Ylä‐Herttuala, Minna Kaikkonen-Määttä, Behnam Rezai Jahromi, Henna Ilmonen, Riikka Tulamo, Suvi Jauhiainen, Jonas Kantonen, Juha E. Jääskeläinen, Aki Laakso, Pentti J. Tienari
article en
2 citations

Abstract

Intracranial aneurysms (IAs) are a major cause of subarachnoidal hemorrhage (SAH) which can have a significant morbidity and mortality. The processes underlying the aneurysm development remains unclear. We performed whole exome sequencing of DNA derived from 20 saccular cerebral aneurysms of 20 patients, 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 77% 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. 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.

European Journal of Human GeneticsVol. 33(8)
University of Helsinki (FI), University of Eastern Finland (FI), Helsinki University Hospital (FI), Kuopio University Hospital (FI), Hospital District of Helsinki and Uusimaa (FI)
Helsingin Yliopisto, Helsingin ja Uudenmaan Sairaanhoitopiiri, Suomen Kulttuurirahasto
Good health and well-being
Openalex Percentile: Top 25%
Intracranial Aneurysms: Treatment and Complications
0.74
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