Object: To provide a review of current, high-impact scientific findings pertaining to the biology of cerebral cavernous malformations (CCMs).
Methods: A comprehensive literature review was conducted using PubMed to examine the current literature regarding the molecular biology and pathophysiology of CCMs.
Results: In this literature review, a comprehensive approach is taken to review the current scientific status of CCMs. This includes discussion of molecular biology and animal models, ultrastructure and angioarchitectural features and immunological methods and hypotheses.
Conclusions: Studies examining the molecular biology of CCMs have shown that genes involved in angiogenesis, blood-brain barrier formation, cell size regulation, vascular permeability and apoptosis play critical roles in the ontogeny of this disease. In vivo work suggests the likelihood of a "two-hit mechanism" resulting in somatic mosaicism and biallelic loss of angiogenic genes. The etiological effects of angioarchitecture and immune response within these lesions further complicate the pathophysiology. Future treatment endeavors will necessitate exploitation of the multiple facets of CCM formation to maximize success at CCM prevention or obliteration.
Keywords: Angioarchitecture; CCM; cavernous malformation; immunology; molecular biology.