Cerebral Cavernous Malformation (CCM): Unraveling the Genetic Basis, Challenges in Diagnosis and Treatment, and Ongoing Research Efforts

Zhe Song

doi:10.54097/tvxgrv43

Authors

Zhe Song

DOI:

https://doi.org/10.54097/tvxgrv43

Keywords:

Cerebral cavernous malformation, epidemiology, diagnosis, treatment.

Abstract

The weakened blood vessels associated with cerebral cavernous malformation (CCM) can result in symptoms such as seizures, stroke-like symptoms, headaches, sensory disturbances, and life-threatening hemorrhages. Symptoms significantly impact daily life and may be challenging to diagnose due to their nonspecific nature. Diagnosing CCM can be challenging due to the lack of specific symptoms, and treatment decisions are complex, considering factors such as the location, size, and associated symptoms of the malformations, as well as the overall health of the individual. Treatment options range from conservative management to surgical interventions, each with its own benefits and risks. Ongoing research efforts focus on unraveling the genetic basis, underlying mechanisms, and potential targeted therapies for CCM. Advances in genetic testing and imaging techniques play a crucial role in improving diagnosis and treatment strategies. This article provides a comprehensive overview of CCM's epidemiology, genetic Basis, challenges in diagnosis and treatment, and ongoing research aimed at better understanding and managing this condition.

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References

Akers A, Al-Shahi Salman R, A Awad I, Dahlem K, Flemming K, Hart B, Kim H, Jusue-Torres I, Kondziolka D, Lee C, Morrison L, Rigamonti D, Rebeiz T, Tournier-Lasserve E, Waggoner D, Whitehead K. Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel. Neurosurgery. 2017 May 1;80(5):665-680.

Flemming KD, Lanzino G. Cerebral Cavernous Malformation: What a Practicing Clinician Should Know. Mayo Clin Proc. 2020 Sep;95(9):2005-2020.

Flemming KD, Lanzino G. Are there differences in clinical presentation, radiologic findings, and outcomes in female patients with cavernous malformation? Acta Neurochir (Wien). 2023 Jul;165(7):1855-1861.

Labauge P, Brunereau L, Laberge S, Houtteville JP. Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations. Neurology. 2001 Nov 27;57(10):1825-8.

Phillips CM, Stamatovic SM, Keep RF, Andjelkovic AV. Cerebral Cavernous Malformation Pathogenesis: Investigating Lesion Formation and Progression with Animal Models. Int J Mol Sci. 2022 Apr 30;23(9):5000.

Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet. 2007 Jan;80(1):69-75.

Detter MR, Snellings DA, Marchuk DA. Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells. Circ Res. 2018 Oct 26;123(10):1143-1151.

Kuroedov D, Cunha B, Pamplona J, Castillo M, Ramalho J. Cerebral cavernous malformations: Typical and atypical imaging characteristics. J Neuroimaging. 2023 Mar;33(2):202-217.

de Souza JM, Domingues RC, Cruz LC Jr, Domingues FS, Iasbeck T, Gasparetto EL. Susceptibility-weighted imaging for the evaluation of patients with familial cerebral cavernous malformations: a comparison with t2-weighted fast spin-echo and gradient-echo sequences. AJNR Am J Neuroradiol. 2008 Jan;29(1):154-8.

Di Ieva A, Lam T, Alcaide-Leon P, Bharatha A, Montanera W, Cusimano MD. Magnetic resonance susceptibility weighted imaging in neurosurgery: current applications and future perspectives. J Neurosurg. 2015 Dec;123(6):1463-75.

Benedetti V, Canzoneri R, Perrelli A, Arduino C, Zonta A, Brusco A, Retta SF. Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM). Antioxidants (Basel). 2022 Jun 29;11(7):1294.

Li H, Ju Y, Cai BW, Chen J, You C, Hui XH. Experience of microsurgical treatment of brainstem cavernomas: report of 37 cases. Neurol India. 2009 May-Jun;57(3):269-73.

Yomo S, Hayashi M. [Stereotactic radiosurgery for intracranial cavernous malformations]. Brain Nerve. 2011 Jan;63(1):41-9. Japanese.

Munakomi S, Torregrossa F, Grasso G. Natural Course, Clinical Profile, and Treatment Strategies for Cerebral Cavernous Malformations. World Neurosurg. 2022 Mar;159:373-380.