Cerebral cavernous malformation etiology [Neurosurgery Wiki]

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====== Cerebral cavernous malformation etiology ======

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[[Cerebral cavernous malformation]] (CM) is a [[sporadic]] [[vascular malformation]] occurring either as an [[autosomal dominant]] condition or as a well-known [[complication]] of [[radiation]] exposure.
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CCMs arise due to loss of function in one of the genes that encode the CCM complex, a negative regulator of MEKK3-KLF2/4 signaling in vascular endothelial cells. Gain-of-function mutations in PIK3CA (encoding the enzymatic subunit of the PI3K (phosphoinositide 3-kinase) pathway associated with cell growth) synergize with CCM gene loss-of-function to generate rapidly growing lesions
((Li L, Ren AA, Gao S, Su YS, Yang J, Bockman J, Mericko-Ishizuka P, Griffin J, Shenkar R, Alcazar R, Moore T, Lightle R, DeBiasse D, Awad IA, Marchuk DA, Kahn ML, Burkhardt JK. mTORC1 Inhibitor Rapamycin Inhibits Growth of Cerebral Cavernous Malformation in Adult Mice. Stroke. 2023 Sep 25. doi: 10.1161/STROKEAHA.123.044108. Epub ahead of print. PMID: 37746705.))
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see [[Radiation induced cerebral cavernous malformation]].

see [[Cerebral cavernous malformation pathogenesis]].