Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth
| العنوان: | Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth |
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| المؤلفون: | Jun Zhang, Johnathan Abou-Fadel, Mellisa Renteria, Ofek Belkin, Bixia Chen, Yuan Zhu, Philipp Dammann, Daniele Rigamonti |
| المصدر: | Journal of Neurology, Neurosurgery & Psychiatry. 93:808-815 |
| بيانات النشر: | BMJ, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Psychiatry and Mental health, Surgery, Neurology (clinical) |
| الوصف: | Somatic gain-of-function (GOF) mutations in phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), the catalytic subunit of phosphoinositide 3-kinase (PI3K), have been recently discovered in cerebral cavernous malformations (CCMs), raising the possibility that the activation of PI3K pathways is a possible universal regulator of vascular morphogenesis. However, there have been contradicting data presented among various groups and studies. To enhance the current understanding of vascular anomalies, it is essential to explore this possible relationship between altered PI3K signalling pathways and its influence on the pathogenesis of CCMs. GOFPIK3CA-mutants have been linked to overgrowth syndromes, allowing this group of disorders, resulting from somatic activating mutations inPIK3CA,to be collectively named asPIK3CA-related overgrowth spectrum disorders. This paper reviews and attempts to conceptualise the relationships and differences among clinical presentations, genotypic and phenotypic correlations and possible coexistence ofPIK3CAandCCMmutations/phenotypes in CCM lesions. Finally, we present a model reflecting our hypothetical understanding of CCM pathogenesis based on a systematic review and conceptualisation of data obtained from other studies. |
| تدمد: | 1468-330X 0022-3050 |
| DOI: | 10.1136/jnnp-2022-328901 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7a5946d55b569212f1b93a352697e72 https://doi.org/10.1136/jnnp-2022-328901 |
| رقم الانضمام: | edsair.doi.dedup.....b7a5946d55b569212f1b93a352697e72 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1468330X 00223050 |
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| DOI: | 10.1136/jnnp-2022-328901 |