Association of PIK3CA mutations with brainstem location in sporadic cerebral cavernous malformations
This study presents new findings linking genetic mutations with clinicoradiological features in sporadic CCMs. The significant association of PIK3CA somatic mutations with brainstem location highlights a potential avenue for personalized therapeutic strategies targeting this mutation, considering the significantly increased morbidity and surgical challenge associated with brainstem lesions. These findings reinforce the importance of integrating genetic data into clinical practice to improve patient outcomes and develop new therapies for CCMs.
Authors
- Mélanie Eyries (ORCID: https://orcid.org/0000-0003-1911-6698)
- Florence Coulet (ORCID: https://orcid.org/0000-0002-5325-5272)
- Yohan Ducos (ORCID: https://orcid.org/0000-0003-1735-7455)
- Franck Bielle (ORCID: https://orcid.org/0000-0001-6564-6388)
- Pauline Marijon (ORCID: https://orcid.org/0000-0002-1771-1250)
- Michel Kalamarides (ORCID: https://orcid.org/0000-0003-1037-9707)
- Matthieu Peyre (ORCID: https://orcid.org/0000-0001-8470-9516)
- Agustí Alentorn (ORCID: https://orcid.org/0000-0002-7220-2686)
- Bertrand Mathon (ORCID: https://orcid.org/0000-0002-9182-5846)
- Martin Planet
- Lucas Rincón de la Rosa (ORCID: https://orcid.org/0009-0001-4863-2088)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Sorbonne Université (FR)
- Pitié-Salpêtrière Hospital (FR)
- Institut du Cerveau (FR)
Publication Details
- Journal
- Journal of neurosurgery
- Published
- 2025-10-04
- DOI
- https://doi.org/10.3171/2025.5.jns25596
- Primary Topic
- Vascular Malformations Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00