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SNIS 19th annual meeting electronic poster abstracts
E-109 Cancer-type somatic mutations in saccular cerebral aneurysms
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  1. B Rezai Jahromi1,
  2. M Valori2,
  3. R Tulamo1,
  4. S Jauhiainen3,
  5. H Immonen4,
  6. J Jääskeläinen5,
  7. M Kaikkonen-Määttä6,
  8. J Kantonen7,
  9. A Laakso1,
  10. S Ylä-Herttuala8,
  11. P Tienari9,
  12. M Niemelä1
  1. 1Department of Neurosurgery, Helsinki University Hospital, Helsinki, FINLAND
  2. 2Department of Translational neuroscience, Helsinki University Hospital, Helsinki, FINLAND
  3. 3AI Virtanen institute, Kuopio, FINLAND
  4. 4AI Virtanen, Kuopio, FINLAND
  5. 5Department of Neurosurgery, University of Eastern Finland and Kuopio University Hospital, Kuopio, FINLAND
  6. 6Department of Molecular Sciences, AI Virtanen Institute, Kuopio, FINLAND
  7. 7Department of Pathology, Helsinki University Hospital, Helsinki, FINLAND
  8. 8Department of Molecular Sciences, AI Virtanen, Kuopio, FINLAND
  9. 9Department of Neurology, Helsinki University Hospital, Helsinki, FINLAND

Abstract

Introduction Saccular Intracranial aneurysms pathogenesis is still unclear. We investigated whether somatic mutations have role in saccular intracranial aneurysm pathogenesis.

Methods We collected aneurysm samples from routine surgeries and collected circles of willis samples as background control group from autopsies. We performed whole exome sequencing of DNA derived from 20 saccular cerebral aneurysms followed by somatic variant calling.

Results 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; 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.

Conclusion 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

Disclosures B. Rezai Jahromi: None. M. Valori: None. R. Tulamo: None. S. Jauhiainen: None. H. Immonen: None. J. Jääskeläinen: None. M. Kaikkonen-Määttä: None. J. Kantonen: None. A. Laakso: None. S. Ylä-Herttuala: None. P. Tienari: None. M. Niemelä: None.

https://doi.org/10.1136/neurintsurg-2022-SNIS.220

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